Entry stringlengths 6 10 | Entry Name stringlengths 5 11 | Sequence stringlengths 2 35.2k | EC number stringlengths 7 118 ⌀ | Cofactor stringlengths 38 1.77k ⌀ | Gene Ontology (biological process) stringlengths 18 11.3k ⌀ | Gene Ontology (cellular component) stringlengths 17 1.75k ⌀ | Gene Ontology (molecular function) stringlengths 24 2.09k ⌀ | Pfam stringlengths 8 232 ⌀ | Gene3D stringlengths 10 250 ⌀ | Protein families stringlengths 9 237 ⌀ | Post-translational modification stringlengths 16 8.52k ⌀ | Subcellular location [CC] stringlengths 29 6.18k ⌀ | Catalytic activity stringlengths 64 35.7k ⌀ | Kinetics stringlengths 69 11.7k ⌀ | Pathway stringlengths 27 908 ⌀ | pH dependence stringlengths 64 955 ⌀ | Temperature dependence stringlengths 70 1.16k ⌀ | Function [CC] stringlengths 17 15.3k ⌀ | Organism stringlengths 8 196 |
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O00159 | MYO1C_HUMAN | MALQVELVPTGEIIRVVHPHRPCKLALGSDGVRVTMESALTARDRVGVQDFVLLENFTSEAAFIENLRRRFRENLIYTYIGPVLVSVNPYRDLQIYSRQHMERYRGVSFYEVPPHLFAVADTVYRALRTERRDQAVMISGESGAGKTEATKRLLQFYAETCPAPERGGAVRDRLLQSNPVLEAFGNAKTLRNDNSSRFGKYMDVQFDFKGAPVGGHILSYLLEKSRVVHQNHGERNFHIFYQLLEGGEEETLRRLGLERNPQSYLYLVKGQCAKVSSINDKSDWKVVRKALTVIDFTEDEVEDLLSIVASVLHLGNIHFA... | null | null | actin filament organization [GO:0007015]; actin filament-based movement [GO:0030048]; cellular response to type II interferon [GO:0071346]; chromatin remodeling [GO:0006338]; endocytosis [GO:0006897]; positive regulation of cell migration [GO:0030335]; positive regulation of cellular response to insulin stimulus [GO:19... | actin cytoskeleton [GO:0015629]; B-WICH complex [GO:0110016]; basal plasma membrane [GO:0009925]; brush border [GO:0005903]; cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; filamentous actin [GO:0031941]; lateral plas... | actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; signaling receptor binding [GO:0005102]; small GTPase binding [GO:0031267] | PF00612;PF00063;PF06017; | 1.10.10.820;1.20.5.190;1.20.58.530;6.20.240.20;3.40.850.10;1.20.120.720; | TRAFAC class myosin-kinesin ATPase superfamily, Myosin family | PTM: Isoform 2 contains a N-acetylmethionine at position 1. | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22736583}. Nucleus {ECO:0000269|PubMed:22736583}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q9WTI7}. Cell projection, stereocilium membrane {ECO:0000250|UniProtKB:Q92002}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:Q9WTI7}. Cell projection, ruffle membrane {ECO:00... | null | null | null | null | null | FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Involved in glucose transporter recycling in response to insuli... | Homo sapiens (Human) |
O00160 | MYO1F_HUMAN | MGSKERFHWQSHNVKQSGVDDMVLLPQITEDAIAANLRKRFMDDYIFTYIGSVLISVNPFKQMPYFTDREIDLYQGAAQYENPPHIYALTDNMYRNMLIDCENQCVIISGESGAGKTVAAKYIMGYISKVSGGGEKVQHVKDIILQSNPLLEAFGNAKTVRNNNSSRFGKYFEIQFSRGGEPDGGKISNFLLEKSRVVMQNENERNFHIYYQLLEGASQEQRQNLGLMTPDYYYYLNQSDTYQVDGTDDRSDFGETLSAMQVIGIPPSIQQLVLQLVAGILHLGNISFCEDGNYARVESVDLLAFPAYLLGIDSGRLQEK... | null | null | actin filament organization [GO:0007015]; endocytosis [GO:0006897]; vesicle transport along actin filament [GO:0030050] | actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; unconventional myosin complex [GO:0016461]; vesicle [GO:0031982] | actin binding [GO:0003779]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146] | PF00063;PF06017;PF00018; | 1.10.10.820;1.20.5.4820;1.20.58.530;3.40.850.10;1.20.120.720;2.30.30.40; | TRAFAC class myosin-kinesin ATPase superfamily, Myosin family | null | null | null | null | null | null | null | FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). {ECO:0000250}. | Homo sapiens (Human) |
O00161 | SNP23_HUMAN | MDNLSSEEIQQRAHQITDESLESTRRILGLAIESQDAGIKTITMLDEQKEQLNRIEEGLDQINKDMRETEKTLTELNKCCGLCVCPCNRTKNFESGKAYKTTWGDGGENSPCNVVSKQPGPVTNGQLQQPTTGAASGGYIKRITNDAREDEMEENLTQVGSILGNLKDMALNIGNEIDAQNPQIKRITDKADTNRDRIDIANARAKKLIDS | null | null | exocytosis [GO:0006887]; histamine secretion by mast cell [GO:0002553]; membrane fusion [GO:0061025]; post-Golgi vesicle-mediated transport [GO:0006892]; protein transport [GO:0015031]; synaptic vesicle fusion to presynaptic active zone membrane [GO:0031629]; synaptic vesicle priming [GO:0016082]; vesicle targeting [GO... | adherens junction [GO:0005912]; azurophil granule [GO:0042582]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; presynaps... | SNAP receptor activity [GO:0005484]; syntaxin binding [GO:0019905]; syntaxin-1 binding [GO:0017075] | PF00835; | 1.20.5.110; | SNAP-25 family | null | SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Cell membrane; Lipid-anchor. Synapse, synaptosome. Note=Mainly localized to the plasma membrane. | null | null | null | null | null | FUNCTION: Essential component of the high affinity receptor for the general membrane fusion machinery and an important regulator of transport vesicle docking and fusion. | Homo sapiens (Human) |
O00165 | HAX1_HUMAN | MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR | null | null | cellular response to cytokine stimulus [GO:0071345]; granulocyte colony-stimulating factor signaling pathway [GO:0038158]; negative regulation of apoptotic process [GO:0043066]; positive regulation of granulocyte differentiation [GO:0030854]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positi... | actin cytoskeleton [GO:0015629]; apical plasma membrane [GO:0016324]; cell cortex [GO:0005938]; clathrin-coated vesicle [GO:0030136]; endoplasmic reticulum [GO:0005783]; lamellipodium [GO:0030027]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrial outer membrane [GO:000574... | interleukin-1 binding [GO:0019966]; signaling adaptor activity [GO:0035591] | null | null | HAX1 family | PTM: Proteolytically cleaved by caspase-3 during apoptosis. {ECO:0000269|PubMed:18319618}. | SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:18971376, ECO:0000269|PubMed:9058808}. Endoplasmic reticulum {ECO:0000269|PubMed:18971376, ECO:0000269|PubMed:9058808}. Nucleus membrane {ECO:0000269|PubMed:9058808}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:O35387}. Cytoplasm, cell cortex {ECO:0000269|Pu... | null | null | null | null | null | FUNCTION: Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex (PubMed:26997484). Slows down the rate of inactivation of KCNC3 channels (PubMed:26997484). Promotes GNA13-mediated cell migration. Involved in t... | Homo sapiens (Human) |
O00167 | EYA2_HUMAN | MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGIQQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPGFPQSQYPQYYGSSYNPPYVPASSICPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDTTTSVRIGLMMEEMIFNLADTHL... | 3.1.3.48 | COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269|PubMed:19858093}; Note=Binds 1 Mg(2+) ion per subunit. {ECO:0000269|PubMed:19858093}; | cell differentiation [GO:0030154]; DNA repair [GO:0006281]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; mesodermal cell fate specification [GO:0007501]; mitochondrial outer membrane permeabilization [GO:0097345]; negative regulation of extrinsic apoptotic signaling pathway in absence of lig... | cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | histone H2AXY142 phosphatase activity [GO:0140793]; magnesium ion binding [GO:0000287]; protein tyrosine phosphatase activity [GO:0004725] | PF00702; | 3.40.50.12350; | HAD-like hydrolase superfamily, EYA family | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10906137, ECO:0000269|PubMed:12500905}. Nucleus {ECO:0000269|PubMed:10906137, ECO:0000269|PubMed:12500905, ECO:0000269|PubMed:19497856}. Note=Retained in the cytoplasm via interaction with GNAZ and GNAI2 (PubMed:10906137). Interaction with SIX1, SIX2, SIX4 or SIX5 is ... | CATALYTIC ACTIVITY: Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence={ECO:0000269|PubMed:19351884}; | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1.9 uM for H2AXY142ph {ECO:0000269|PubMed:19351884}; KM=80 uM for H2AXS139ph {ECO:0000269|PubMed:19351884}; | null | null | null | FUNCTION: Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:12500905, PubMed:23435380). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair... | Homo sapiens (Human) |
O00168 | PLM_HUMAN | MASLGHILVFCVGLLTMAKAESPKEHDPFTYDYQSLQIGGLVIAGILFILGILIVLSRRCRCKFNQQQRTGEPDEEEGTFRSSIRRLSTRRR | null | null | chloride transport [GO:0006821]; muscle contraction [GO:0006936]; negative regulation of protein glutathionylation [GO:0010734]; positive regulation of sodium ion export across plasma membrane [GO:1903278]; potassium ion transport [GO:0006813]; regulation of cardiac muscle cell membrane potential [GO:0086036]; regulati... | apical plasma membrane [GO:0016324]; caveola [GO:0005901]; intercalated disc [GO:0014704]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; sodium:potassium-exchanging ATPase complex [GO:0005890]; T-tubule [GO:0030315] | chloride channel activity [GO:0005254]; sodium channel regulator activity [GO:0017080]; transmembrane transporter binding [GO:0044325] | PF02038; | 1.20.5.780; | FXYD family | PTM: Major plasma membrane substrate for cAMP-dependent protein kinase (PKA) and protein kinase C (PKC) in several different tissues (By similarity). Phosphorylated in response to insulin and adrenergic stimulation (By similarity). Phosphorylation at Ser-88 stimulates sodium/potassium-transporting ATPase activity while... | SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P56513}; Single-pass type I membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000250|UniProtKB:O08589}; Single-pass type I membrane protein {ECO:0000255}. Membrane, caveola {ECO:0000250|UniProtKB:O08589}. Cell membrane, sarcolemma, T-tubule... | null | null | null | null | null | FUNCTION: Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B... | Homo sapiens (Human) |
O00170 | AIP_HUMAN | MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTMREGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESPGTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQCKLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAPVVSRELRALEARIRQKDEED... | null | null | protein maturation by protein folding [GO:0022417]; protein targeting to mitochondrion [GO:0006626]; regulation of protein kinase A signaling [GO:0010738]; xenobiotic metabolic process [GO:0006805] | aryl hydrocarbon receptor complex [GO:0034751]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654] | aryl hydrocarbon receptor binding [GO:0017162]; GAF domain binding [GO:0036004]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; transcription coactivator activity [GO:0003713]; unfolded protein binding [GO:0051082] | PF00254; | 3.10.50.40;1.25.40.10; | null | null | SUBCELLULAR LOCATION: Cytoplasm. | null | null | null | null | null | FUNCTION: May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting.; FUNCTION: Cellular negative regulator of the hepatitis B virus (HBV) X protein. | Homo sapiens (Human) |
O00175 | CCL24_HUMAN | MAGLMTIVTSLLFLGVCAHHIIPTGSVVIPSPCCMFFVSKRIPENRVVSYQLSSRSTCLKAGVIFTTKKGQQFCGDPKQEWVQRYMKNLDAKQKKASPRARAVAVKGPVQRYPGNQTTC | null | null | cell-cell signaling [GO:0007267]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to type II interferon [GO:0071346]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytoskeleton organization [GO:0007010]; eosinophil... | extracellular space [GO:0005615] | CCR chemokine receptor binding [GO:0048020]; CCR3 chemokine receptor binding [GO:0031728]; chemokine activity [GO:0008009]; receptor ligand activity [GO:0048018] | PF00048; | 2.40.50.40; | Intercrine beta (chemokine CC) family | PTM: N-glycosylated. {ECO:0000269|PubMed:9104803}. | SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9104803, ECO:0000269|PubMed:9365122}. | null | null | null | null | null | FUNCTION: Chemotactic for resting T-lymphocytes, and eosinophils (PubMed:9104803, PubMed:9365122). Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes (PubMed:9104803, PubMed:9365122). Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cel... | Homo sapiens (Human) |
O00178 | GTPB1_HUMAN | MATERSRSAMDSPVPASMFAPEPSSPGAARAAAAAARLHGGFDSDCSEDGEALNGEPELDLTSKLVLVSPTSEQYDSLLRQMWERMDEGCGETIYVIGQGSDGTEYGLSEADMEASYATVKSMAEQIEADVILLRERQEAGGRVRDYLVRKRVGDNDFLEVRVAVVGNVDAGKSTLLGVLTHGELDNGRGFARQKLFRHKHEIESGRTSSVGNDILGFDSEGNVVNKPDSHGGSLEWTKICEKSTKVITFIDLAGHEKYLKTTVFGMTGHLPDFCMLMVGSNAGIVGMTKEHLGLALALNVPVFVVVTKIDMCPANILQE... | null | null | cytoplasmic translation [GO:0002181]; GTP metabolic process [GO:0046039]; immune response [GO:0006955]; positive regulation of mRNA catabolic process [GO:0061014]; signal transduction [GO:0007165]; translational elongation [GO:0006414] | cytoplasmic exosome (RNase complex) [GO:0000177]; cytosol [GO:0005829]; membrane [GO:0016020] | alpha-aminoacyl-tRNA binding [GO:1904678]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; RNA binding [GO:0003723]; translation elongation factor activity [GO:0003746]; tRNA binding [GO:0000049] | PF00009;PF03144; | 3.40.50.300;2.40.30.10; | TRAFAC class translation factor GTPase superfamily, Classic translation factor GTPase family, GTPBP1 subfamily | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. | null | null | null | null | null | FUNCTION: Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity). {ECO:0000250}. | Homo sapiens (Human) |
O00180 | KCNK1_HUMAN | MLQSLAGSSCVRLVERHRSAWCFGFLVLGYLLYLVFGAVVFSSVELPYEDLLRQELRKLKRRFLEEHECLSEQQLEQFLGRVLEASNYGVSVLSNASGNWNWDFTSALFFASTVLSTTGYGHTVPLSDGGKAFCIIYSVIGIPFTLLFLTAVVQRITVHVTRRPVLYFHIRWGFSKQVVAIVHAVLLGFVTVSCFFFIPAAVFSVLEDDWNFLESFYFCFISLSTIGLGDYVPGEGYNQKFRELYKIGITCYLLLGLIAMLVVLETFCELHELKKFRKMFYVKKDKDEDQVHIIEHDQLSFSSITDQAAGMKEDQKQNEP... | null | null | potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of resting membrane potential [GO:0060075]; response to nicotine [GO:0035094]; sodium ion transmembrane transport [GO:0035725]; stabilization of membrane potential [GO:0030322] | apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; dendrite [GO:0030425]; intracellular membrane-bounded organelle [GO:0043231]; inward rectifier potassium channel complex [GO:1902937]; membrane [GO:0016020]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; potassium channel complex [GO:0034... | identical protein binding [GO:0042802]; inward rectifier potassium channel activity [GO:0005242]; outward rectifier potassium channel activity [GO:0015271]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; sodium channel activity [GO:0005272] | PF07885; | 1.10.287.70; | Two pore domain potassium channel (TC 1.A.1.8) family | PTM: Sumoylation is controversial. Sumoylated by UBE2I (PubMed:15820677). Not sumoylated when expressed in xenopus oocytes or mammalian cells (PubMed:17693262). Sumoylation inactivates the channel, but does not interfere with expression at the cell membrane (PubMed:15820677). Sumoylation of a single subunit is sufficie... | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15820677, ECO:0000269|PubMed:17693262, ECO:0000269|PubMed:20498050, ECO:0000269|PubMed:21653227, ECO:0000269|PubMed:22282804, ECO:0000269|PubMed:22431633, ECO:0000269|PubMed:23169818, ECO:0000269|PubMed:25001086, ECO:0000269|PubMed:8605869, ECO:0000269|PubMed:8978... | null | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: Note=Has a unit conductance of 34 pS. Both activation and channel closure are very rapid. Is not voltage-gated. The relationship between voltage and current is nearly linear. Has a mean open time of 0.3 msec at a membrane potential of -80 mV, and 1.9 msec at +80 mV (P... | null | null | null | FUNCTION: Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues (PubMed:15820677, PubMed:21653227). Forms dimeric channels through which potassium ions pass in accordance with their e... | Homo sapiens (Human) |
O00182 | LEG9_HUMAN | MAFSGSQAPYLSPAVPFSGTIQGGLQDGLQITVNGTVLSSSGTRFAVNFQTGFSGNDIAFHFNPRFEDGGYVVCNTRQNGSWGPEERKTHMPFQKGMPFDLCFLVQSSDFKVMVNGILFVQYFHRVPFHRVDTISVNGSVQLSYISFQNPRTVPVQPAFSTVPFSQPVCFPPRPRGRRQKPPGVWPANPAPITQTVIHTVQSAPGQMFSTPAIPPMMYPHPAYPMPFITTILGGLYPSKSILLSGTVLPSAQRFHINLCSGNHIAFHLNPRFDENAVVRNTQIDNSWGSEERSLPRKMPFVRGQSFSVWILCEAHCLKVA... | null | null | cellular response to type II interferon [GO:0071346]; cellular response to virus [GO:0098586]; chemotaxis [GO:0006935]; ERK1 and ERK2 cascade [GO:0070371]; female pregnancy [GO:0007565]; inflammatory response [GO:0006954]; maternal process involved in female pregnancy [GO:0060135]; natural killer cell tolerance inducti... | collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleus [GO:0005634] | carbohydrate binding [GO:0030246]; disaccharide binding [GO:0048030]; enzyme binding [GO:0019899]; galactose binding [GO:0005534]; galactoside binding [GO:0016936] | PF00337; | 2.60.120.200; | null | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23242525}. Nucleus {ECO:0000269|PubMed:23242525}. Secreted {ECO:0000269|PubMed:23817958, ECO:0000269|PubMed:25578313}. Note=May also be secreted by a non-classical secretory pathway (By similarity). Secreted by mesenchymal stromal cells upon IFNG stimulation (PubMed:2... | null | null | null | null | null | FUNCTION: Binds galactosides (PubMed:18005988). Has high affinity for the Forssman pentasaccharide (PubMed:18005988). Ligand for HAVCR2/TIM3 (PubMed:16286920). Binding to HAVCR2 induces T-helper type 1 lymphocyte (Th1) death (PubMed:16286920). Also stimulates bactericidal activity in infected macrophages by causing mac... | Homo sapiens (Human) |
O00186 | STXB3_HUMAN | MAPPVAERGLKSVVWQKIKATVFDDCKKEGEWKIMLLDEFTTKLLASCCKMTDLLEEGITVVENIYKNREPVRQMKALYFITPTSKSVDCFLHDFASKSENKYKAAYIYFTDFCPDNLFNKIKASCSKSIRRCKEINISFIPHESQVYTLDVPDAFYYCYSPDPGNAKGKDAIMETMADQIVTVCATLDENPGVRYKSKPLDNASKLAQLVEKKLEDYYKIDEKSLIKGKTHSQLLIIDRGFDPVSTVLHELTFQAMAYDLLPIENDTYKYKTDGKEKEAILEEEDDLWVRIRHRHIAVVLEEIPKLMKEISSTKKATEG... | null | null | brain development [GO:0007420]; cellular response to type II interferon [GO:0071346]; insulin secretion [GO:0030073]; intracellular glucose homeostasis [GO:0001678]; intracellular protein transport [GO:0006886]; negative regulation of calcium ion-dependent exocytosis [GO:0045955]; negative regulation of glucose import ... | apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; platelet alpha granule [GO:0031091]; presynapse [GO:0098793]; secretory granule [GO:0030141]; specific granule [GO:00425... | protein-containing complex binding [GO:0044877]; syntaxin binding [GO:0019905]; syntaxin-1 binding [GO:0017075] | PF00995; | 1.25.40.60;3.40.50.1910;3.40.50.2060; | STXBP/unc-18/SEC1 family | PTM: Phosphorylated by PKC in platelets in response to thrombin stimulation; phosphorylation inhibits binding to STX4. {ECO:0000269|PubMed:10194441}. | SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10194441}. Cell membrane {ECO:0000269|PubMed:10194441}. Note=In platelets, predominantly cytosolic. Low amounts membrane-associated. | null | null | null | null | null | FUNCTION: Together with STX4 and VAMP2, may play a role in insulin-dependent movement of GLUT4 and in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes. {ECO:0000250}. | Homo sapiens (Human) |
O00187 | MASP2_HUMAN | MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQPCPYPMAPPNGHVSPVQAKYIL... | 3.4.21.104 | null | complement activation, classical pathway [GO:0006958]; complement activation, lectin pathway [GO:0001867]; proteolysis [GO:0006508] | extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615] | calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; complement component C4b binding [GO:0001855]; identical protein binding [GO:0042802]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252] | PF00431;PF07645;PF00084;PF00089; | 2.10.70.10;2.10.25.10;2.60.120.290;2.40.10.10; | Peptidase S1 family | PTM: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. {ECO:0000250}.; PTM: Activated by cleavage after Arg-444. The uncleaved zymogen is inactive towards synthetic substrates, but has sufficient activity to effect autocatalytic cleavage. | SUBCELLULAR LOCATION: Secreted. | CATALYTIC ACTIVITY: Reaction=Selective cleavage after Arg-223 in complement component C2 (-Ser-Leu-Gly-Arg-|-Lys-Ile-Gln-Ile) and after Arg-76 in complement component C4 (-Gly-Leu-Gln-Arg-|-Ala-Leu-Glu-Ile).; EC=3.4.21.104; | null | null | null | null | FUNCTION: Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase. {ECO:0000269|PubMed:10946292}. | Homo sapiens (Human) |
O00189 | AP4M1_HUMAN | MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCD... | null | null | autophagosome assembly [GO:0000045]; Golgi to endosome transport [GO:0006895]; Golgi to lysosome transport [GO:0090160]; intracellular protein transport [GO:0006886]; post-Golgi vesicle-mediated transport [GO:0006892]; protein localization [GO:0008104]; protein localization to basolateral plasma membrane [GO:1903361]; ... | AP-4 adaptor complex [GO:0030124]; clathrin adaptor complex [GO:0030131]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; early endosome [GO:0005769]; endosome lumen [GO:0031904]; extracellular exosome [GO:0070062]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588] | protein domain specific binding [GO:0019904]; protein transmembrane transporter activity [GO:0008320] | PF00928;PF01217; | 3.30.450.60;2.60.40.1170; | Adaptor complexes medium subunit family | null | SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:20230749, ECO:0000269|PubMed:29180427, ECO:0000269|PubMed:32073997}; Peripheral membrane protein {ECO:0000305|PubMed:32073997}. Early endosome {ECO:0000269|PubMed:20230749}. Note=Found in soma and dendritic shafts of neuronal cells.... | null | null | null | null | null | FUNCTION: Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028, PubMed:11139587, PubMed:1180216... | Homo sapiens (Human) |
O00192 | ARVC_HUMAN | MEDCNVHSAASILASVKEQEARFERLTRALEQERRHVALQLERAQQPGMVSGGMGSGQPLPMAWQQLVLQEQSPGSQASLATMPEAPDVLEETVTVEEDPGTPTSHVSIVTSEDGTTRRTETKVTKTVKTVTTRTVRQVPVGPDGLPLLDGGPPLGPFADGALDRHFLLRGGGPVATLSRAYLSSGGGFPEGPEPRDSPSYGSLSRGLGMRPPRAGPLGPGPGDGCFTLPGHREAFPVGPEPGPPGGRSLPERFQAEPYGLEDDTRSLAADDEGGPELEPDYGTATRRRPECGRGLHTRAYEDTADDGGELADERPAFPM... | null | null | cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; cell-cell junction assembly [GO:0007043]; mRNA processing [GO:0006397]; RNA splicing [GO:0008380] | adherens junction [GO:0005912]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; plasma membrane [GO:0005886] | cadherin binding [GO:0045296] | PF00514; | 1.25.10.10; | Beta-catenin family | null | SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000269|PubMed:10725230, ECO:0000269|PubMed:24644279, ECO:0000305|PubMed:30479852}. Nucleus {ECO:0000269|PubMed:10725230, ECO:0000269|PubMed:24644279}. Cytoplasm {ECO:0000269|PubMed:24644279}. Note=In heart, localizes at area composita, the mixed-type junction... | null | null | null | null | null | FUNCTION: Contributes to the regulation of alternative splicing of pre-mRNAs. {ECO:0000269|PubMed:24644279}. | Homo sapiens (Human) |
O00194 | RB27B_HUMAN | MTDGDYDYLIKLLALGDSGVGKTTFLYRYTDNKFNPKFITTVGIDFREKRVVYNAQGPNGSSGKAFKVHLQLWDTAGQERFRSLTTAFFRDAMGFLLMFDLTSQQSFLNVRNWMSQLQANAYCENPDIVLIGNKADLPDQREVNERQARELADKYGIPYFETSAATGQNVEKAVETLLDLIMKRMEQCVEKTQIPDTVNGGNSGNLDGEKPPEKKCIC | 3.6.5.2 | null | anterograde axonal protein transport [GO:0099641]; exocytosis [GO:0006887]; multivesicular body sorting pathway [GO:0071985]; positive regulation of exocytosis [GO:0045921]; synaptic vesicle endocytosis [GO:0048488] | apical plasma membrane [GO:0016324]; axon cytoplasm [GO:1904115]; exocytic vesicle [GO:0070382]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi stack [GO:0005795]; late endosome [GO:0005770]; melanosome [GO:0042470]; multivesicular body membrane [GO:0032585]; plasma membrane [GO:0005886]; plate... | G protein activity [GO:0003925]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; myosin V binding [GO:0031489]; protein domain specific binding [GO:0019904] | PF00071; | 3.40.50.300; | Small GTPase superfamily, Rab family | null | SUBCELLULAR LOCATION: Membrane; Lipid-anchor. Late endosome {ECO:0000269|PubMed:30771381}. | CATALYTIC ACTIVITY: Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence={ECO:0000305|PubMed:30771381}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19670; Evidence={ECO:0000305|PubM... | null | null | null | null | FUNCTION: Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in NTRK2/TRKB axonal anter... | Homo sapiens (Human) |
O00198 | HRK_HUMAN | MCPCPLHRGRGPPAVCACSAGRLGLRSSAAQLTAARLKALGDELHQRTMWRRRARSRRAPAPGALPTYWPWLCAAAQVAALAAWLLGRRNL | null | null | apoptotic process [GO:0006915]; positive regulation of apoptotic process [GO:0043065]; positive regulation of protein-containing complex assembly [GO:0031334]; positive regulation of release of cytochrome c from mitochondria [GO:0090200] | membrane [GO:0016020]; mitochondrion [GO:0005739] | null | PF15196; | null | null | null | SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein. Mitochondrion. | null | null | null | null | null | FUNCTION: Promotes apoptosis. {ECO:0000269|PubMed:15031724, ECO:0000269|PubMed:9130713}. | Homo sapiens (Human) |
O00203 | AP3B1_HUMAN | MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVA... | null | null | anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; antigen processing and presentation, exogenous lipid antigen via MHC class Ib [GO:0048007]; blood coagulation [GO:0007596]; cell morphogenesis [GO:0000902]; clathrin-coated vesicle cargo loading, AP-3-mediated [GO:0035654]; ... | AP-3 adaptor complex [GO:0030123]; axon cytoplasm [GO:1904115]; clathrin adaptor complex [GO:0030131]; clathrin-coated vesicle membrane [GO:0030665]; early endosome [GO:0005769]; Golgi apparatus [GO:0005794]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; microvesicle [GO:1990742]; mitochondrion [GO:0005739] | GTP-dependent protein binding [GO:0030742]; protein phosphatase binding [GO:0019903] | PF01602;PF14796;PF14797; | 1.25.10.10; | Adaptor complexes large subunit family | PTM: Phosphorylated on serine residues. {ECO:0000269|PubMed:9182526}.; PTM: Pyrophosphorylation by 5-diphosphoinositol pentakisphosphate (5-IP7) impairs interaction with KIF3A (PubMed:19934039). Serine pyrophosphorylation is achieved by Mg(2+)-dependent, but enzyme independent transfer of a beta-phosphate from a inosit... | SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000305|PubMed:9151686}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Golgi apparatus {ECO:0000305|PubMed:9151686}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the... | null | null | null | null | null | FUNCTION: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosoli... | Homo sapiens (Human) |
O00204 | ST2B1_HUMAN | MDGPAEPQIPGLWDTYEDDISEISQKLPGEYFRYKGVPFPVGLYSLESISLAENTQDVRDDDIFIITYPKSGTTWMIEIICLILKEGDPSWIRSVPIWERAPWCETIVGAFSLPDQYSPRLMSSHLPIQIFTKAFFSSKAKVIYMGRNPRDVVVSLYHYSKIAGQLKDPGTPDQFLRDFLKGEVQFGSWFDHIKGWLRMKGKDNFLFITYEELQQDLQGSVERICGFLGRPLGKEALGSVVAHSTFSAMKANTMSNYTLLPPSLLDHRRGAFLRKGVCGDWKNHFTVAQSEAFDRAYRKQMRGMPTFPWDEDPEEDGSPD... | 2.8.2.2 | null | 3'-phosphoadenosine 5'-phosphosulfate metabolic process [GO:0050427]; cholesterol metabolic process [GO:0008203]; negative regulation of cell population proliferation [GO:0008285]; positive regulation of epidermal cell differentiation [GO:0045606]; steroid metabolic process [GO:0008202]; sulfation [GO:0051923] | cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634] | cholesterol binding [GO:0015485]; cholesterol sulfotransferase activity [GO:0051922]; nucleic acid binding [GO:0003676]; small molecule binding [GO:0036094]; steroid hormone binding [GO:1990239]; steroid sulfotransferase activity [GO:0050294]; sulfotransferase activity [GO:0008146] | PF00685; | 3.40.50.300; | Sulfotransferase 1 family | PTM: Phosphorylated. {ECO:0000269|PubMed:16855051}. | SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:12923182, ECO:0000269|PubMed:16855051, ECO:0000269|PubMed:21855633, ECO:0000269|PubMed:28575648}. Microsome {ECO:0000269|PubMed:16855051, ECO:0000269|PubMed:21855633}. Nucleus {ECO:0000269|PubMed:16855051, ECO:0000269|PubMed:21855633}. Note=Phosphorylation of... | CATALYTIC ACTIVITY: Reaction=3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+); Xref=Rhea:RHEA:22552, ChEBI:CHEBI:15378, ChEBI:CHEBI:30879, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:83414; EC=2.8.2.2; Evidence={ECO:0000269|PubMed:12145317, ECO:0000269|PubMed:168550... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=23.5 uM for (24S)-hydroxycholesterol {ECO:0000269|PubMed:19589875}; KM=10.9 uM for DHEA (at 37 degrees Celsius, in the presence of 1 mM MgCl2) {ECO:0000269|PubMed:21855633}; KM=3.8 uM for DHEA (at 37 degrees Celsius, in the presence of 10 mM MgCl2) {ECO:0000269|Pub... | null | null | BIOPHYSICOCHEMICAL PROPERTIES: Temperature dependence: Optimum temperature is 37 degrees Celsius. Retains 70% and 20% of activity when incubated at 42 degrees Celsius for 45 and 120 minutes, respectively. Activity is lost after 200 minutes incubation at 42 degrees Celsius. {ECO:0000269|PubMed:16855051, ECO:0000269|Pub... | FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol (PubMed:12145317, PubMed:19589875). Catalyzes sulfation of the 3beta-hydroxyl groups of steroids, such as, pregnenolone and dehydroepiandros... | Homo sapiens (Human) |
O00206 | TLR4_HUMAN | MMSASRLAGTLIPAMAFLSCVRPESWEPCVEVVPNITYQCMELNFYKIPDNLPFSTKNLDLSFNPLRHLGSYSFFSFPELQVLDLSRCEIQTIEDGAYQSLSHLSTLILTGNPIQSLALGAFSGLSSLQKLVAVETNLASLENFPIGHLKTLKELNVAHNLIQSFKLPEYFSNLTNLEHLDLSSNKIQSIYCTDLRVLHQMPLLNLSLDLSLNPMNFIQPGAFKEIRLHKLTLRNNFDSLNVMKTCIQGLAGLEVHRLVLGEFRNEGNLEKFDKSALEGLCNLTIEEFRLAYLDYYLDDIIDLFNCLTNVSSFSLVSVTI... | null | null | astrocyte development [GO:0014002]; B cell proliferation involved in immune response [GO:0002322]; cellular response to amyloid-beta [GO:1904646]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to lipoteichoic acid [GO:0071223]; cellular response to mechanical stimulus [GO:0071260]; cellular re... | cell surface [GO:0009986]; cytoplasm [GO:0005737]; early endosome [GO:0005769]; endosome membrane [GO:0010008]; external side of plasma membrane [GO:0009897]; lipopolysaccharide receptor complex [GO:0046696]; perinuclear region of cytoplasm [GO:0048471]; phagocytic cup [GO:0001891]; plasma membrane [GO:0005886]; recept... | amyloid-beta binding [GO:0001540]; identical protein binding [GO:0042802]; lipopolysaccharide binding [GO:0001530]; lipopolysaccharide immune receptor activity [GO:0001875]; NAD+ nucleotidase, cyclic ADP-ribose generating [GO:0061809]; protein heterodimerization activity [GO:0046982]; signaling receptor activity [GO:00... | PF12799;PF13516;PF13855;PF01582; | 3.80.10.10;3.40.50.10140; | Toll-like receptor family | PTM: N-glycosylated. Glycosylation of Asn-526 and Asn-575 seems to be necessary for the expression of TLR4 on the cell surface and the LPS-response. Likewise, mutants lacking two or more of the other N-glycosylation sites were deficient in interaction with LPS. {ECO:0000269|PubMed:11706042, ECO:0000269|PubMed:17803912,... | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11274165, ECO:0000269|PubMed:17098818, ECO:0000269|PubMed:20037584, ECO:0000269|PubMed:21393102, ECO:0000269|PubMed:27022195, ECO:0000269|PubMed:36232715, ECO:0000269|PubMed:36945827, ECO:0000269|PubMed:9237759}; Single-pass type I membrane protein {ECO:0000269|Pu... | null | null | null | null | null | FUNCTION: Transmembrane receptor that functions as a pattern recognition receptor recognizing pathogen- and damage-associated molecular patterns (PAMPs and DAMPs) to induce innate immune responses via downstream signaling pathways (PubMed:10835634, PubMed:15809303, PubMed:16622205, PubMed:17292937, PubMed:17478729, Pub... | Homo sapiens (Human) |
O00212 | RHOD_HUMAN | MTAAQAAGEEAPPGVRSVKVVLVGDGGCGKTSLLMVFADGAFPESYTPTVFERYMVNLQVKGKPVHLHIWDTAGQDDYDRLRPLFYPDASVLLLCFDVTSPNSFDNIFNRWYPEVNHFCKKVPIIVVGCKTDLRKDKSLVNKLRRNGLEPVTYHRGQEMARSVGAVAYLECSARLHDNVHAVFQEAAEVALSSRGRNFWRRITQGFCVVT | null | null | actin filament bundle assembly [GO:0051017]; actin filament organization [GO:0007015]; cell migration [GO:0016477]; focal adhesion assembly [GO:0048041]; lamellipodium assembly [GO:0030032]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell migration [GO:0030335]; regulation of actin cytosk... | cytosol [GO:0005829]; early endosome [GO:0005769]; endosome membrane [GO:0010008]; Golgi membrane [GO:0000139]; mitochondrial outer membrane [GO:0005741]; plasma membrane [GO:0005886] | GTP binding [GO:0005525]; GTPase activity [GO:0003924]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein kinase binding [GO:0019901] | PF00071; | 3.40.50.300; | Small GTPase superfamily, Rho family | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Early endosome {ECO:0000269|PubMed:24102721}. Note=Colocalizes with RAB5 to early endosomes (By similarity). {ECO:0000250|UniProtKB:P97348}. | null | null | null | null | null | FUNCTION: Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and inclu... | Homo sapiens (Human) |
O00213 | APBB1_HUMAN | MSVPSSLSQSAINANSHGGPALSLPLPLHAAHNQLLNAKLQATAVGPKDLRSAMGEGGGPEPGPANAKWLKEGQNQLRRAATAHRDQNRNVTLTLAEEASQEPEMAPLGPKGLIHLYSELELSAHNAANRGLRGPGLIISTQEQGPDEGEEKAAGEAEEEEEDDDDEEEEEDLSSPPGLPEPLESVEAPPRPQALTDGPREHSKSASLLFGMRNSAASDEDSSWATLSQGSPSYGSPEDTDSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDE... | null | null | apoptotic process [GO:0006915]; axonogenesis [GO:0007409]; chromatin organization [GO:0006325]; DNA damage response [GO:0006974]; negative regulation of cell cycle G1/S phase transition [GO:1902807]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of apoptotic process [GO:004... | cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; synapse [GO:0045202] | amyloid-beta binding [GO:0001540]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; low-density lipoprotein particle receptor binding [GO:0050750]; molecular adaptor activity [GO:0060090]; proline-rich region binding [GO:0070064]; transcription coactivator activity [GO:0003713]; ubiquitin protein ligase bi... | PF00640;PF00397; | 2.20.70.10;2.30.29.30; | null | PTM: Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity). Phosphorylated following nuclear translocation (PubMed:15031292, PubMed:18922798). Phosphorylation at Tyr-547 by ABL1 enhances transcriptional activation activity and reduces the affinity for RASD1/DEXRAS1 (PubMed:15031292... | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18468999}. Cytoplasm {ECO:0000269|PubMed:18468999}. Nucleus {ECO:0000269|PubMed:15031292, ECO:0000269|PubMed:18468999, ECO:0000269|PubMed:18922798, ECO:0000269|PubMed:19343227}. Cell projection, growth cone {ECO:0000250|UniProtKB:P46933}. Nucleus speckle {ECO:0000... | null | null | null | null | null | FUNCTION: Transcription coregulator that can have both coactivator and corepressor functions (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469, PubMed:33938178). Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular... | Homo sapiens (Human) |
O00214 | LEG8_HUMAN | MMLSLNNLQNIIYNPVIPFVGTIPDQLDPGTLIVIRGHVPSDADRFQVDLQNGSSMKPRADVAFHFNPRFKRAGCIVCNTLINEKWGREEITYDTPFKREKSFEIVIMVLKDKFQVAVNGKHTLLYGHRIGPEKIDTLGIYGKVNIHSIGFSFSSDLQSTQASSLELTEISRENVPKSGTPQLRLPFAARLNTPMGPGRTVVVKGEVNANAKSFNVDLLAGKSKDIALHLNPRLNIKAFVRNSFLQESWGEEERNITSFPFSPGMYFEMIIYCDVREFKVAVNGVHSLEYKHRFKELSSIDTLEINGDIHLLEVRSW | null | null | cellular response to virus [GO:0098586]; lymphatic endothelial cell migration [GO:1904977]; xenophagy [GO:0098792] | cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; extracellular space [GO:0005615]; membrane [GO:0016020] | carbohydrate binding [GO:0030246]; integrin binding [GO:0005178] | PF00337; | 2.60.120.200; | null | null | SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000269|PubMed:22246324}. Cytoplasm, cytosol {ECO:0000269|PubMed:22246324}. | null | null | null | null | null | FUNCTION: Beta-galactoside-binding lectin that acts as a sensor of membrane damage caused by infection and restricts the proliferation of infecting pathogens by targeting them for autophagy (PubMed:22246324, PubMed:28077878). Detects membrane rupture by binding beta-galactoside ligands located on the lumenal side of th... | Homo sapiens (Human) |
O00217 | NDUS8_HUMAN | MRCLTTPMLLRALAQAARAGPPGGRSLHSSAVAATYKYVNMQDPEMDMKSVTDRAARTLLWTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAICPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQEACPVDAIVEGPNFEFSTETHEELLYNKEKLLNNGDKWEAEIAANIQADYLYR | 7.1.1.2 | COFACTOR: Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Evidence={ECO:0000250|UniProtKB:Q56224}; Note=Binds 2 [4Fe-4S] cluster. {ECO:0000250|UniProtKB:Q56224}; | aerobic respiration [GO:0009060]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; proton motive force-driven mitochondrial ATP synthesis [GO:0042776]; response to oxidative stress [GO:0006979] | mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739] | 4 iron, 4 sulfur cluster binding [GO:0051539]; metal ion binding [GO:0046872]; NADH dehydrogenase (ubiquinone) activity [GO:0008137] | PF12838; | 3.30.70.3270; | Complex I 23 kDa subunit family | null | SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891, ECO:0000305|PubMed:9666055}; Peripheral membrane protein {ECO:0000250|UniProtKB:P42028}; Matrix side {ECO:0000250|UniProtKB:P42028}. | CATALYTIC ACTIVITY: Reaction=a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+); Xref=Rhea:RHEA:29091, Rhea:RHEA-COMP:9565, Rhea:RHEA-COMP:9566, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=7.1.1.2; Evidence={ECO:0000269|PubMed:22499348}; | null | null | null | null | FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22499348). Essential for the catalytic activity and assembly of complex I (PubMed:22499348). {... | Homo sapiens (Human) |
O00219 | HYAS3_HUMAN | MPVQLTTALRVVGTSLFALAVLGGILAAYVTGYQFIHTEKHYLSFGLYGAILGLHLLIQSLFAFLEHRRMRRAGQALKLPSPRRGSVALCIAAYQEDPDYLRKCLRSAQRISFPDLKVVMVVDGNRQEDAYMLDIFHEVLGGTEQAGFFVWRSNFHEAGEGETEASLQEGMDRVRDVVRASTFSCIMQKWGGKREVMYTAFKALGDSVDYIQVCDSDTVLDPACTIEMLRVLEEDPQVGGVGGDVQILNKYDSWISFLSSVRYWMAFNVERACQSYFGCVQCISGPLGMYRNSLLQQFLEDWYHQKFLGSKCSFGDDRHL... | 2.4.1.212 | COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; | carbohydrate metabolic process [GO:0005975]; extracellular matrix assembly [GO:0085029]; extracellular polysaccharide biosynthetic process [GO:0045226]; hyaluronan biosynthetic process [GO:0030213]; positive regulation of DNA-templated transcription [GO:0045893]; positive regulation of hyaluranon cable assembly [GO:190... | early endosome [GO:0005769]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; hyaluranon cable [GO:0036117]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886] | hyaluronan synthase activity [GO:0050501]; identical protein binding [GO:0042802] | PF13641; | null | NodC/HAS family | PTM: O-GlcNAcylation increases the hyaluronan synthase activity, HAS3 stability and its plasma membrane residence. The concentration of UDP-GlcNAc controls the level of O-GlcNAc modification. {ECO:0000269|PubMed:26883802}. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25795779, ECO:0000269|PubMed:26883802, ECO:0000269|PubMed:30394292}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:25795779}; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane {ECO:0000250|UniProtK... | CATALYTIC ACTIVITY: Reaction=[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP; Xref=Rhea:RHEA:20465, Rhea:RHEA-COMP:12583, Rhea:RHEA-COMP:12585, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:132153, ChEBI:CHEBI:132154; EC=2.4.1.... | null | PATHWAY: Glycan biosynthesis; hyaluronan biosynthesis. {ECO:0000269|PubMed:23303191}. | null | null | FUNCTION: Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This ... | Homo sapiens (Human) |
O00220 | TR10A_HUMAN | MAPPPARVHLGAFLAVTPNPGSAASGTEAAAATPSKVWGSSAGRIEPRGGGRGALPTSMGQHGPSARARAGRAPGPRPAREASPRLRVHKTFKFVVVGVLLQVVPSSAATIKLHDQSIGTQQWEHSPLGELCPPGSHRSEHPGACNRCTEGVGYTNASNNLFACLPCTACKSDEEERSPCTTTRNTACQCKPGTFRNDNSAEMCRKCSRGCPRGMVKVKDCTPWSDIECVHKESGNGHNIWVILVVTLVVPLLLVAVLIVCCCIGSGCGGDPKCMDRVCFWRLGLLRGPGAEDNAHNEILSNADSLSTFVSEQQMESQEP... | null | null | activation of NF-kappaB-inducing kinase activity [GO:0007250]; apoptotic process [GO:0006915]; cellular response to mechanical stimulus [GO:0071260]; extrinsic apoptotic signaling pathway [GO:0097191]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; positive regulation of apoptotic proces... | cell surface [GO:0009986]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; membrane raft [GO:0045121]; plasma membrane [GO:0005886] | death receptor activity [GO:0005035]; identical protein binding [GO:0042802]; protease binding [GO:0002020]; signaling receptor activity [GO:0038023]; TRAIL binding [GO:0045569] | PF00531;PF00020; | 1.10.533.10;2.10.50.10; | null | PTM: Palmitoylated (PubMed:19090789). Palmitoylation of TNFRSF10A is required for its association with lipid rafts, oligomerization and function in TRAIL-induced cell death (PubMed:19090789). Palmitoylated by ZDHHC3 (Probable). {ECO:0000269|PubMed:19090789, ECO:0000305|PubMed:22240897}. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22240897}; Single-pass type I membrane protein {ECO:0000255}. Membrane raft {ECO:0000269|PubMed:19090789, ECO:0000269|PubMed:22240897}. Cytoplasm, cytosol {ECO:0000269|PubMed:22240897}. Note=Palmitoylation is required for association with membranes. {ECO:0000269|P... | null | null | null | null | null | FUNCTION: Receptor for the cytotoxic ligand TNFSF10/TRAIL (PubMed:26457518). The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cyst... | Homo sapiens (Human) |
O00221 | IKBE_HUMAN | MNQRRSESRPGNHRLQAYAEPGKGDSGGAGPLSGSARRGRGGGGAIRVRRPCWSGGAGRGGGPAWAVRLPTVTAGWTWPALRTLSSLRAGPSEPHSPGRRPPRAGRPLCQADPQPGKAARRSLEPDPAQTGPRPARAAGMSEARKGPDEAEESQYDSGIESLRSLRSLPESTSAPASGPSDGSPQPCTHPPGPVKEPQEKEDADGERADSTYGSSSLTYTLSLLGGPEAEDPAPRLPLPHVGALSPQQLEALTYISEDGDTLVHLAVIHEAPAVLLCCLALLPQEVLDIQNNLYQTALHLAVHLDQPGAVRALVLKGASR... | null | null | cellular response to tumor necrosis factor [GO:0071356]; cytoplasmic sequestering of transcription factor [GO:0042994] | cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654] | NF-kappaB binding [GO:0051059] | PF12796; | 1.25.40.20; | NF-kappa-B inhibitor family | PTM: Serine phosphorylated; followed by proteasome-dependent degradation. | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. | null | null | null | null | null | FUNCTION: Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 and p50-c-Rel complexes. {ECO:0000269|PubMed:9315679}. | Homo sapiens (Human) |
O00222 | GRM8_HUMAN | MVCEGKRSASCPCFFLLTAKFYWILTMMQRTHSQEYAHSIRVDGDIILGGLFPVHAKGERGVPCGELKKEKGIHRLEAMLYAIDQINKDPDLLSNITLGVRILDTCSRDTYALEQSLTFVQALIEKDASDVKCANGDPPIFTKPDKISGVIGAAASSVSIMVANILRLFKIPQISYASTAPELSDNTRYDFFSRVVPPDSYQAQAMVDIVTALGWNYVSTLASEGNYGESGVEAFTQISREIGGVCIAQSQKIPREPRPGEFEKIIKRLLETPNARAVIMFANEDDIRRILEAAKKLNQSGHFLWIGSDSWGSKIAPVYQ... | null | null | adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway [GO:0007196]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; regulation of synaptic transmission, glutamatergic [GO:0051966]; ... | plasma membrane [GO:0005886] | G protein-coupled receptor activity [GO:0004930]; glutamate receptor activity [GO:0008066]; group III metabotropic glutamate receptor activity [GO:0001642] | PF00003;PF01094;PF07562; | 3.40.50.2300;2.10.50.30; | G-protein coupled receptor 3 family | null | SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. | null | null | null | null | null | FUNCTION: G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. {ECO:0000269|PubMed:... | Homo sapiens (Human) |
O00231 | PSD11_HUMAN | MAAAAVVEFQRAQSLLSTDREASIDILHSIVKRDIQENDEEAVQVKEQSILELGSLLAKTGQAAELGGLLKYVRPFLNSISKAKAARLVRSLLDLFLDMEAATGQEVELCLECIEWAKSEKRTFLRQALEARLVSLYFDTKRYQEALHLGSQLLRELKKMDDKALLVEVQLLESKTYHALSNLPKARAALTSARTTANAIYCPPKLQATLDMQSGIIHAAEEKDWKTAYSYFYEAFEGYDSIDSPKAITSLKYMLLCKIMLNTPEDVQALVSGKLALRYAGRQTEALKCVAQASKNRSLADFEKALTDYRAELRDDPIIS... | null | null | proteasome assembly [GO:0043248]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; stem cell differentiation [GO:0048863]; ubiquitin-dependent protein catabolic process [GO:0006511] | cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome accessory complex [GO:0022624]; proteasome complex [GO:0000502]; proteasome regulatory particle, lid subcomplex [GO:0008541]; secretory gr... | structural molecule activity [GO:0005198] | PF01399;PF18503;PF18055; | 1.25.40.570; | Proteasome subunit S9 family | PTM: Phosphorylated by AMPK. {ECO:0000269|PubMed:19616115}. | SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. | null | null | null | null | null | FUNCTION: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose ... | Homo sapiens (Human) |
O00232 | PSD12_HUMAN | MADGGSERADGRIVKMEVDYSATVDQRLPECAKLAKEGRLQEVIETLLSLEKQTRTASDMVSTSRILVAVVKMCYEAKEWDLLNENIMLLSKRRSQLKQAVAKMVQQCCTYVEEITDLPIKLRLIDTLRMVTEGKIYVEIERARLTKTLATIKEQNGDVKEAASILQELQVETYGSMEKKERVEFILEQMRLCLAVKDYIRTQIISKKINTKFFQEENTEKLKLKYYNLMIQLDQHEGSYLSICKHYRAIYDTPCIQAESEKWQQALKSVVLYVILAPFDNEQSDLVHRISGDKKLEEIPKYKDLLKLFTTMELMRWSTL... | null | null | proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161] | cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; proteasome accessory complex [GO:0022624]; proteasome complex [GO:0000502]; proteasome regulatory particle [GO:... | null | PF01399;PF18098; | 1.10.10.10; | Proteasome subunit p55 family | null | null | null | null | null | null | null | FUNCTION: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose ... | Homo sapiens (Human) |
O00233 | PSMD9_HUMAN | MSDEEARQSGGSSQAGVVTVSDVQELMRRKEEIEAQIKANYDVLESQKGIGMNEPLVDCEGYPRSDVDLYQVRTARHNIICLQNDHKAVMKQVEEALHQLHARDKEKQARDMAEAHKEAMSRKLGQSESQGPPRAFAKVNSISPGSPASIAGLQVDDEIVEFGSVNTQNFQSLHNIGSVVQHSEGKPLNVTVIRRGEKHQLRLVPTRWAGKGLLGCNIIPLQR | null | null | negative regulation of insulin secretion [GO:0046676]; positive regulation of DNA-templated transcription [GO:0045893]; positive regulation of insulin secretion [GO:0032024]; proteasome regulatory particle assembly [GO:0070682]; ubiquitin-dependent protein catabolic process [GO:0006511] | cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome regulatory particle [GO:0005838] | bHLH transcription factor binding [GO:0043425]; transcription coactivator activity [GO:0003713] | PF18265;PF17820; | 2.30.42.10;6.10.140.1710; | Proteasome subunit p27 family | null | null | null | null | null | null | null | FUNCTION: Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). During the base subcomplex assembly is part of an intermediate PSMD9:PSMC6:PSMC3 module, also known as modulator trimer complex; PSMD9 is released during the further bas... | Homo sapiens (Human) |
O00237 | RN103_HUMAN | MWLKLFFLLLYFLVLFVLARFFEAIVWYETGIFATQLVDPVALSFKKLKTILECRGLGYSGLPEKKDVRELVEKSGDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQVIANDRSPLVGKIHWEKMVKKVSRFGIRTGTFNCSSDPRYCRRRGWVRSTLIMSVPQTSTSKGKVMLKEYSGRKIEVEHIFKWITAHAASRIKTIYNAEHLKEEWNKSDQYWLKIYLFANLDQPPAFFSALSIKFTGRVEFIFVNVENWDNKSYMTDIGIYNMPSYILRTPEGIYRYGNHTGEFISLQAMDSFLRSLQ... | 2.3.2.27 | null | central nervous system development [GO:0007417]; ERAD pathway [GO:0036503]; protein ubiquitination [GO:0016567] | endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789] | metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842] | PF13639; | 3.30.40.10; | null | null | SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18675248}; Multi-pass membrane protein {ECO:0000269|PubMed:18675248}. | CATALYTIC ACTIVITY: Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; | null | PATHWAY: Protein modification; protein ubiquitination. | null | null | FUNCTION: Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway. {ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:18675248}. | Homo sapiens (Human) |
O00238 | BMR1B_HUMAN | MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEEDDSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVDGPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLIEQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKSMLKLAYSSVSGLCHLHTEIF... | 2.7.11.30 | COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250}; | BMP signaling pathway [GO:0030509]; cartilage condensation [GO:0001502]; cellular response to BMP stimulus [GO:0071773]; cellular response to growth factor stimulus [GO:0071363]; central nervous system neuron differentiation [GO:0021953]; chondrocyte development [GO:0002063]; dorsal/ventral pattern formation [GO:000995... | dendrite [GO:0030425]; HFE-transferrin receptor complex [GO:1990712]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; receptor complex [GO:0043235] | ATP binding [GO:0005524]; BMP binding [GO:0036122]; BMP receptor activity [GO:0098821]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; SMAD binding [GO:0046332]; transforming growth factor beta receptor activity, type I [GO:0005025]; transmembrane receptor protein serine/threonin... | PF01064;PF07714;PF08515; | 2.10.60.10;1.10.510.10; | Protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily | PTM: Autophosphorylated. {ECO:0000250|UniProtKB:P36898}. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P36898}; Single-pass type I membrane protein {ECO:0000255}. | CATALYTIC ACTIVITY: Reaction=ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein]; Xref=Rhea:RHEA:44880, Rhea:RHEA-COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30; Evidence={ECO:0000250|U... | null | null | null | null | FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positivel... | Homo sapiens (Human) |
O00241 | SIRB1_HUMAN | MPVPASWPHLPSPFLLMTLLLGRLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYNQKEGHFPRVTTVSELTKRNNLDFSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVRAKPSAPVVSGPAVRATPEHTVSFTCESHGFSPRDITLKWFKNGNELSDFQTNVDPAGDSVSYSIHSTARVVLTRGDVHSQVICEIAHITLQGDPLRGTANLSEAIRVPPTLEVTQQPMRAENQANVTCQVSNFYPRGLQLTWLENGNVSRTETASTLIENKDGTYNWMSWLLVNTC... | null | null | cell surface receptor signaling pathway [GO:0007166]; positive regulation of phagocytosis [GO:0050766]; positive regulation of T cell activation [GO:0050870]; signal transduction [GO:0007165] | cell surface [GO:0009986]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667] | null | PF07654;PF07686; | 2.60.40.10; | null | PTM: N-glycosylated. {ECO:0000269|PubMed:10604985, ECO:0000269|PubMed:16335952}. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10604985}; Single-pass type I membrane protein {ECO:0000255}. | null | null | null | null | null | FUNCTION: Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Participates also in the recruitment of tyrosine kinase SYK. Triggers activation of myeloid cells when associated with TYROBP (PubMed:10604985). {ECO:0000269|PubMed:10604985}. | Homo sapiens (Human) |
O00244 | ATOX1_HUMAN | MPKHEFSVDMTCGGCAEAVSRVLNKLGGVKYDIDLPNKKVCIESEHSMDTLLATLKKTGKTVSYLGLE | null | null | copper ion transport [GO:0006825]; intracellular copper ion homeostasis [GO:0006878]; response to oxidative stress [GO:0006979] | cytosol [GO:0005829] | copper chaperone activity [GO:0016531]; copper ion binding [GO:0005507]; copper-dependent protein binding [GO:0032767]; cuprous ion binding [GO:1903136]; metallochaperone activity [GO:0016530] | PF00403; | 3.30.70.100; | ATX1 family | null | null | null | null | null | null | null | FUNCTION: Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense. | Homo sapiens (Human) |
O00253 | AGRP_HUMAN | MLTAAVLSCALLLALPATRGAQMGLAPMEGIRRPDQALLPELPGLGLRAPLKKTTAEQAEEDLLQEAQALAEVLDLQDREPRSSRRCVRLHESCLGQQVPCCDPCATCYCRFFNAFCYCRKLGTAMNPCSRT | null | null | adult feeding behavior [GO:0008343]; circadian rhythm [GO:0007623]; eating behavior [GO:0042755]; feeding behavior [GO:0007631]; hormone-mediated signaling pathway [GO:0009755]; long-day photoperiodism [GO:0048571]; maternal process involved in female pregnancy [GO:0060135]; neuropeptide signaling pathway [GO:0007218];... | extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; neuronal cell body [GO:0043025] | neuropeptide hormone activity [GO:0005184]; signaling receptor binding [GO:0005102]; type 1 melanocortin receptor binding [GO:0070996] | PF05039; | 4.10.760.10; | null | null | SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15927146}. Golgi apparatus lumen {ECO:0000269|PubMed:15927146}. | null | null | null | null | null | FUNCTION: Plays a role in weight homeostasis. Involved in the control of feeding behavior through the central melanocortin system. Acts as alpha melanocyte-stimulating hormone antagonist by inhibiting cAMP production mediated by stimulation of melanocortin receptors within the hypothalamus and adrenal gland. Has very l... | Homo sapiens (Human) |
O00254 | PAR3_HUMAN | MKALIFAAAGLLLLLPTFCQSGMENDTNNLAKPTLPIKTFRGAPPNSFEEFPFSALEGWTGATITVKIKCPEESASHLHVKNATMGYLTSSLSTKLIPAIYLLVFVVGVPANAVTLWMLFFRTRSICTTVFYTNLAIADFLFCVTLPFKIAYHLNGNNWVFGEVLCRATTVIFYGNMYCSILLLACISINRYLAIVHPFTYRGLPKHTYALVTCGLVWATVFLYMLPFFILKQEYYLVQPDITTCHDVHNTCESSSPFQLYYFISLAFFGFLIPFVLIIYCYAAIIRTLNAYDHRWLWYVKASLLILVIFTICFAPSNII... | null | null | blood coagulation [GO:0007596]; ligand-gated ion channel signaling pathway [GO:1990806]; platelet activation [GO:0030168]; positive regulation of insulin secretion [GO:0032024]; positive regulation of Rho protein signal transduction [GO:0035025]; response to wounding [GO:0009611] | apical plasma membrane [GO:0016324]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991] | G protein-coupled receptor activity [GO:0004930]; phosphatidylinositol phospholipase C activity [GO:0004435]; receptor ligand activity [GO:0048018]; thrombin-activated receptor activity [GO:0015057] | PF00001; | 1.20.1070.10; | G-protein coupled receptor 1 family | PTM: A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand. | SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. | null | null | null | null | null | FUNCTION: Receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. {ECO:0000269|PubMed:10079109}. | Homo sapiens (Human) |
O00255 | MEN1_HUMAN | MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYP... | null | null | DNA damage response [GO:0006974]; DNA repair [GO:0006281]; MAPK cascade [GO:0000165]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell population proliferation [GO:0008285]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of D... | chromatin [GO:0000785]; chromosome, telomeric region [GO:0000781]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; histone methyltransferase complex [GO:0035097]; MLL1 complex [GO:0071339]; MLL1/2 complex [GO:0044665]; nuclear matrix [GO:0016363]; nu... | chromatin binding [GO:0003682]; double-stranded DNA binding [GO:0003690]; four-way junction DNA binding [GO:0000400]; phosphoprotein binding [GO:0051219]; protein-macromolecule adaptor activity [GO:0030674]; R-SMAD binding [GO:0070412]; transcription cis-regulatory region binding [GO:0000976]; Y-form DNA binding [GO:00... | PF05053; | null | null | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12874027}. Note=Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation. | null | null | null | null | null | FUNCTION: Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferat... | Homo sapiens (Human) |
O00257 | CBX4_HUMAN | MELPAVGEHVFAVESIEKKRIRKGRVEYLVKWRGWSPKYNTWEPEENILDPRLLIAFQNRERQEQLMGYRKRGPKPKPLVVQVPTFARRSNVLTGLQDSSTDNRAKLDLGAQGKGQGHQYELNSKKHHQYQPHSKERAGKPPPPGKSGKYYYQLNSKKHHPYQPDPKMYDLQYQGGHKEAPSPTCPDLGAKSHPPDKWAQGAGAKGYLGAVKPLAGAAGAPGKGSEKGPPNGMMPAPKEAVTGNGIGGKMKIVKNKNKNGRIVIVMSKYMENGMQAVKIKSGEVAEGEARSPSHKKRAADERHPPADRTFKKAAGAEEKK... | 2.3.2.- | null | chromatin organization [GO:0006325]; negative regulation of apoptotic process [GO:0043066]; negative regulation of DNA-templated transcription [GO:0045892]; negative regulation of transcription by RNA polymerase II [GO:0000122]; protein sumoylation [GO:0016925] | nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; PRC1 complex [GO:0035102] | chromatin binding [GO:0003682]; enzyme binding [GO:0019899]; methylated histone binding [GO:0035064]; phosphoprotein binding [GO:0051219]; single-stranded RNA binding [GO:0003727]; SUMO binding [GO:0032183]; SUMO ligase activity [GO:0061665]; SUMO transferase activity [GO:0019789]; transcription cis-regulatory region b... | PF17218;PF00385; | 2.40.50.40; | null | PTM: Ubiquitinated. Ubiquitination regulates the function of the Polycomb group (PcG) multiprotein PRC1-like complex. Deubiquitinated by USP26. {ECO:0000269|PubMed:28839133}.; PTM: Phosphorylated on Thr-497 by HIPK2 upon DNA damage. This phosphorylation stimulates E3 SUMO-protein ligase activity and promotes sumoylatio... | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12679040, ECO:0000269|PubMed:17018294, ECO:0000269|PubMed:18927235, ECO:0000269|PubMed:21282530}. Nucleus speckle {ECO:0000269|PubMed:19266028}. Note=Localization to nuclear polycomb bodies is required for ZNF131 sumoylation (PubMed:22467880). Localized in distinct foci... | null | null | PATHWAY: Protein modification; protein sumoylation. | null | null | FUNCTION: E3 SUMO-protein ligase which facilitates SUMO1 conjugation by UBE2I (PubMed:12679040). Involved in the sumoylation of HNRNPK, a p53/TP53 transcriptional coactivator, hence indirectly regulates p53/TP53 transcriptional activation resulting in p21/CDKN1A expression. Monosumoylates ZNF131 (PubMed:22825850). {ECO... | Homo sapiens (Human) |
O00258 | GET1_HUMAN | MSSAAADHWAWLLVLSFVFGCNVLRILLPSFSSFMSRVLQKDAEQESQMRAEIQDMKQELSTVNMMDEFARYARLERKINKMTDKLKTHVKARTAQLAKIKWVISVAFYVLQAALMISLIWKYYSVPVAVVPSKWITPLDRLVAFPTRVAGGVGITCWILVCNKVVAIVLHPFS | null | null | protein insertion into ER membrane [GO:0045048]; protein stabilization [GO:0050821]; tail-anchored membrane protein insertion into ER membrane [GO:0071816] | endoplasmic reticulum membrane [GO:0005789]; GET complex [GO:0043529]; nucleus [GO:0005634] | protein-membrane adaptor activity [GO:0043495] | PF04420; | 1.10.287.660; | WRB/GET1 family | null | SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21444755}; Multi-pass membrane protein {ECO:0000255}. | null | null | null | null | null | FUNCTION: Required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (ER) (PubMed:21444755, PubMed:23041287, PubMed:24392163, PubMed:27226539). Together with CAMLG/GET2, acts as a membrane receptor for soluble GET3/TRC40, which recognizes and selectively binds the transmemb... | Homo sapiens (Human) |
O00264 | PGRC1_HUMAN | MAAEDVVATGADPSDLESGGLLHEIFTSPLNLLLLGLCIFLLYKIVRGDQPAASGDSDDDEPPPLPRLKRRDFTPAELRRFDGVQDPRILMAINGKVFDVTKGRKFYGPEGPYGVFAGRDASRGLATFCLDKEALKDEYDDLSDLTAAQQETLSDWESQFTFKYHHVGKLLKEGEEPTVYSDEEEPKDESARKND | null | null | heme biosynthetic process [GO:0006783]; positive regulation of lipoprotein transport [GO:0140077]; positive regulation of protein localization to plasma membrane [GO:1903078] | cell body [GO:0044297]; endomembrane system [GO:0012505]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; smooth endoplasmic reticulum m... | amyloid-beta binding [GO:0001540]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; steroid binding [GO:0005496] | PF00173; | 3.10.120.10; | Cytochrome b5 family, MAPR subfamily | PTM: O-glycosylated; contains chondroitin sulfate attached to Ser-54. Ser-54 is in the cytoplasmic domain but the glycosylated form was detected in urine, suggesting that the membrane-bound form is cleaved, allowing for production of a secreted form which is glycosylated. {ECO:0000269|PubMed:36213313, ECO:0000269|PubMe... | SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250|UniProtKB:Q95250}; Single-pass membrane protein {ECO:0000255}. Smooth endoplasmic reticulum membrane {ECO:0000303|PubMed:28396637}; Single-pass membrane protein {ECO:0000255}. Mitochondrion outer membrane {ECO:0000250|UniProtKB:O55022}; Single-pass membrane protein ... | null | null | null | null | null | FUNCTION: Component of a progesterone-binding protein complex (PubMed:28396637). Binds progesterone (PubMed:25675345). Has many reported cellular functions (heme homeostasis, interaction with CYPs). Required for the maintenance of uterine histoarchitecture and normal female reproductive lifespan (By similarity). Intrac... | Homo sapiens (Human) |
O00267 | SPT5H_HUMAN | MSDSEDSNFSEEEDSERSSDGEEAEVDEERRSAAGSEKEEEPEDEEEEEEEEEYDEEEEEEDDDRPPKKPRHGGFILDEADVDDEYEDEDQWEDGAEDILEKEEIEASNIDNVVLDEDRSGARRLQNLWRDQREEELGEYYMKKYAKSSVGETVYGGSDELSDDITQQQLLPGVKDPNLWTVKCKIGEERATAISLMRKFIAYQFTDTPLQIKSVVAPEHVKGYIYVEAYKQTHVKQAIEGVGNLRLGYWNQQMVPIKEMTDVLKVVKEVANLKPKSWVRLKRGIYKDDIAQVDYVEPSQNTISLKMIPRIDYDRIKARM... | null | null | negative regulation of DNA-templated transcription, elongation [GO:0032785]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of DNA-templated transcription, elongation [GO:0032786]; positive regulation of macroautophagy [GO:0016239]; positive regulation of transcription by RN... | DSIF complex [GO:0032044]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | chromatin binding [GO:0003682]; enzyme binding [GO:0019899]; mRNA binding [GO:0003729]; protein heterodimerization activity [GO:0046982]; RNA binding [GO:0003723] | PF00467;PF03439;PF11942; | 2.30.30.30;3.30.70.940; | SPT5 family | PTM: Methylated by PRMT1/HRMT1L2 and PRMT5/SKB1. Methylation negatively regulates interaction with P-TEFb and RNA polymerase II. {ECO:0000269|PubMed:12718890}.; PTM: Phosphorylated by CDK7 and CDK9. Phosphorylation by P-TEFb alleviates transcriptional pausing and can stimulate transcriptional elongation from the HIV-1 ... | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10075709}. | null | null | null | null | null | FUNCTION: Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative... | Homo sapiens (Human) |
O00268 | TAF4_HUMAN | MAAGSDLLDEVFFNSEVDEKVVSDLVGSLESQLAASAAHHHHLAPRTPEVRAAAAGALGNHVVSGSPAGAAGAGPAAPAEGAPGAAPEPPPAGRARPGGGGPQRPGPPSPRRPLVPAGPAPPAAKLRPPPEGSAGSCAPVPAAAAVAAGPEPAPAGPAKPAGPAALAARAGPGPGPGPGPGPGPGPGKPAGPGAAQTLNGSAALLNSHHAAAPAVSLVNNGPAALLPLPKPAAPGTVIQTPPFVGAAAPPAPAAPSPPAAPAPAAPAAAPPPPPPAPATLARPPGHPAGPPTAAPAVPPPAAAQNGGSAGAAPAPAPAAG... | null | null | DNA-templated transcription initiation [GO:0006352]; mRNA transcription by RNA polymerase II [GO:0042789]; ovarian follicle development [GO:0001541]; positive regulation of DNA-templated transcription [GO:0045893]; positive regulation of transcription initiation by RNA polymerase II [GO:0060261]; regulation of DNA repa... | chromatin [GO:0000785]; cytosol [GO:0005829]; male germ cell nucleus [GO:0001673]; MLL1 complex [GO:0071339]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; transcription factor TFIID complex [GO:0005669]; transcription factor TFTC complex [GO:0033276] | aryl hydrocarbon receptor binding [GO:0017162]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; RNA polymerase II general transcription initiation factor activity [GO:0016251] | PF05236;PF07531; | 1.10.20.10;1.20.120.1110; | TAF4 family | null | SUBCELLULAR LOCATION: Nucleus. | null | null | null | null | null | FUNCTION: The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiatio... | Homo sapiens (Human) |
O00270 | GPR31_HUMAN | MPFPNCSAPSTVVATAVGVLLGLECGLGLLGNAVALWTFLFRVRVWKPYAVYLLNLALADLLLAACLPFLAAFYLSLQAWHLGRVGCWALHFLLDLSRSVGMAFLAAVALDRYLRVVHPRLKVNLLSPQAALGVSGLVWLLMVALTCPGLLISEAAQNSTRCHSFYSRADGSFSIIWQEALSCLQFVLPFGLIVFCNAGIIRALQKRLREPEKQPKLQRAQALVTLVVVLFALCFLPCFLARVLMHIFQNLGSCRALCAVAHTSDVTGSLTYLHSVLNPVVYCFSSPTFRSSYRRVFHTLRGKGQAAEPPDFNPRDSYS | null | null | G protein-coupled receptor signaling pathway [GO:0007186]; lipid metabolic process [GO:0006629]; negative regulation of inflammatory response [GO:0050728]; positive regulation of immune response [GO:0050778]; response to acidic pH [GO:0010447]; response to ischemia [GO:0002931]; response to molecule of bacterial origin... | plasma membrane [GO:0005886] | arachidonic acid binding [GO:0050544]; bioactive lipid receptor activity [GO:0045125]; G protein-coupled receptor activity [GO:0004930] | PF00001; | 1.20.1070.10; | G-protein coupled receptor 1 family | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21712392, ECO:0000269|PubMed:28619714, ECO:0000269|PubMed:31119277}; Multi-pass membrane protein {ECO:0000255}. | null | null | null | null | null | FUNCTION: High-affinity receptor for 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (12-S-HETE), with much lower affinities for other HETE isomers (PubMed:21712392, PubMed:29227475). 12-S-HETE is a eicosanoid, a 12-lipoxygenase (ALOX12) metabolite of arachidonic acid, involved in many physiologic and pathologic process... | Homo sapiens (Human) |
O00273 | DFFA_HUMAN | MEVTGDAGVPESGEIRTLKPCLLRRNYSREQHGVAASCLEDLRSKACDILAIDKSLTPVTLVLAEDGTIVDDDDYFLCLPSNTKFVALASNEKWAYNNSDGGTAWISQESFDVDETDSGAGLKWKNVARQLKEDLSSIILLSEEDLQMLVDAPCSDLAQELRQSCATVQRLQHTLQQVLDQREEVRQSKQLLQLYLQALEKEGSLLSKQEESKAAFGEEVDAVDTGISRETSSDVALASHILTALREKQAPELSLSSQDLELVTKEDPKALAVALNWDIKKTETVQEACERELALRLQQTQSLHSLRSISASKASPPGDL... | null | null | apoptotic DNA fragmentation [GO:0006309]; chaperone-mediated protein folding [GO:0061077]; negative regulation of apoptotic DNA fragmentation [GO:1902511]; negative regulation of deoxyribonuclease activity [GO:0032076]; negative regulation of execution phase of apoptosis [GO:1900118]; positive regulation of apoptotic p... | chromatin [GO:0000785]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991] | deoxyribonuclease inhibitor activity [GO:0060703]; protein domain specific binding [GO:0019904]; protein folding chaperone [GO:0044183] | PF02017;PF09033; | 3.10.20.10;1.10.1490.10; | null | PTM: Caspase-3 cleaves DFF45 at 2 sites to generate an active factor. | SUBCELLULAR LOCATION: Cytoplasm. | null | null | null | null | null | FUNCTION: Inhibitor of the caspase-activated DNase (DFF40). | Homo sapiens (Human) |
O00287 | RFXAP_HUMAN | MEAQGVAEGAGPGAASGVPHPAALAPAAAPTLAPASVAAAASQFTLLVMQPCAGQDEAAAPGGSVGAGKPVRYLCEGAGDGEEEAGEDEADLLDTSDPPGGGESAASLEDLEDEETHSGGEGSSGGARRRGSGGGSMSKTCTYEGCSETTSQVAKQRKPWMCKKHRNKMYKDKYKKKKSDQALNCGGTASTGSAGNVKLEESADNILSIVKQRTGSFGDRPARPTLLEQVLNQKRLSLLRSPEVVQFLQKQQQLLNQQVLEQRQQQFPGTSM | null | null | positive regulation of MHC class II biosynthetic process [GO:0045348]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357] | nuclear speck [GO:0016607]; nucleus [GO:0005634]; RNA polymerase II transcription regulator complex [GO:0090575] | DNA binding [GO:0003677] | PF15289; | 6.10.290.30; | null | PTM: Phosphorylated. | SUBCELLULAR LOCATION: Nucleus. | null | null | null | null | null | FUNCTION: Part of the RFX complex that binds to the X-box of MHC II promoters. | Homo sapiens (Human) |
O00291 | HIP1_HUMAN | MDRMASSMKQVPNPLPKVLSRRGVGAGLEAAERESFERTQTVSINKAINTQEVAVKEKHARTCILGTHHEKGAQTFWSVVNRLPLSSNAVLCWKFCHVFHKLLRDGHPNVLKDSLRYRNELSDMSRMWGHLSEGYGQLCSIYLKLLRTKMEYHTKNPRFPGNLQMSDRQLDEAGESDVNNFFQLTVEMFDYLECELNLFQTVFNSLDMSRSVSVTAAGQCRLAPLIQVILDCSHLYDYTVKLLFKLHSCLPADTLQGHRDRFMEQFTKLKDLFYRSSNLQYFKRLIQIPQLPENPPNFLRASALSEHISPVVVIPAEASS... | null | null | actin filament organization [GO:0007015]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; cell differentiation [GO:0030154]; clathrin coat assembly [GO:0048268]; endocytosis [GO:0006897]; neurotransm... | clathrin-coated vesicle [GO:0030136]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleus [GO:000563... | actin filament binding [GO:0051015]; AP-2 adaptor complex binding [GO:0035612]; clathrin adaptor activity [GO:0035615]; clathrin binding [GO:0030276]; clathrin light chain binding [GO:0032051]; epidermal growth factor receptor binding [GO:0005154]; glutamate receptor binding [GO:0035254]; phosphatidylinositol binding [... | PF07651;PF16515;PF01608; | 1.20.5.1700;1.25.40.90;6.10.250.920;1.20.1410.10; | SLA2 family | null | SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Note=Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR. | null | null | null | null | null | FUNCTION: Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances... | Homo sapiens (Human) |
O00292 | LFTY2_HUMAN | MWPLWLCWALWVLPLAGPGAALTEEQLLGSLLRQLQLSEVPVLDRADMEKLVIPAHVRAQYVVLLRRSHGDRSRGKRFSQSFREVAGRFLASEASTHLLVFGMEQRLPPNSELVQAVLRLFQEPVPKAALHRHGRLSPRSAQARVTVEWLRVRDDGSNRTSLIDSRLVSVHESGWKAFDVTEAVNFWQQLSRPRQPLLLQVSVQREHLGPLASGAHKLVRFASQGAPAGLGEPQLELHTLDLRDYGAQGDCDPEAPMTEGTRCCRQEMYIDLQGMKWAKNWVLEPPGFLAYECVGTCQQPPEALAFNWPFLGPRQCIASE... | null | null | anterior/posterior axis specification [GO:0009948] | collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; platelet alpha granule lumen [GO:0031093] | cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160] | PF00019;PF00688; | 2.60.120.970;2.10.90.10; | TGF-beta family | PTM: The processing of the protein may also occur at the second R-X-X-R site located at AA 132-135. Processing appears to be regulated in a cell-type specific manner. | SUBCELLULAR LOCATION: Secreted. | null | null | null | null | null | FUNCTION: Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding. | Homo sapiens (Human) |
O00294 | TULP1_HUMAN | MPLRDETLREVWASDSGHEEESLSPEAPRRPKQRPAPAQRLRKKRTEAPESPCPTGSKPRKPGAGRTGRPREEPSPDPAQARAPQTVYARFLRDPEAKKRDPRETFLVARAPDAEDEEEEEEEDEEDEEEEAEEKKEKILLPPKKPLREKSSADLKERRAKAQGPRGDLGSPDPPPKPLRVRNKEAPAGEGTKMRKTKKKGSGEADKDPSGSPASARKSPAAMFLVGEGSPDKKALKKKGTPKGARKEEEEEEEAATVIKKSNQKGKAKGKGKKKAKEERAPSPPVEVDEPREFVLRPAPQGRTVRCRLTRDKKGMDRGM... | null | null | dendrite development [GO:0016358]; detection of light stimulus involved in visual perception [GO:0050908]; eye photoreceptor cell development [GO:0042462]; phagocytosis, recognition [GO:0006910]; photoreceptor cell maintenance [GO:0045494]; positive regulation of phagocytosis [GO:0050766]; protein localization to ciliu... | axon terminus [GO:0043679]; cell projection [GO:0042995]; cilium [GO:0005929]; cytosol [GO:0005829]; extracellular region [GO:0005576]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; synapse [GO:0045202] | actin filament binding [GO:0051015]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546] | PF01167; | null | TUB family | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16303976}. Cell membrane {ECO:0000269|PubMed:16303976}; Peripheral membrane protein {ECO:0000269|PubMed:16303976}; Cytoplasmic side {ECO:0000269|PubMed:16303976}. Secreted {ECO:0000250}. Synapse {ECO:0000250}. Note=Detected at synapses between photoreceptor cells and ... | null | null | null | null | null | FUNCTION: Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylin... | Homo sapiens (Human) |
O00299 | CLIC1_HUMAN | MAEEQPQVELFVKAGSDGAKIGNCPFSQRLFMVLWLKGVTFNVTTVDTKRRTETVQKLCPGGQLPFLLYGTEVHTDTNKIEEFLEAVLCPPRYPKLAALNPESNTAGLDIFAKFSAYIKNSNPALNDNLEKGLLKALKVLDNYLTSPLPEEVDETSAEDEGVSQRKFLDGNELTLADCNLLPKLHIVQVVCKKYRGFTIPEAFRGVHRYLSNAYAREEFASTCPDDEEIELAYEQVAKALK | null | null | chloride transport [GO:0006821]; platelet aggregation [GO:0070527]; positive regulation of osteoblast differentiation [GO:0045669]; regulation of mitochondrial membrane potential [GO:0051881]; signal transduction [GO:0007165] | blood microparticle [GO:0072562]; brush border [GO:0005903]; chloride channel complex [GO:0034707]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nuclear ... | cadherin binding [GO:0045296]; chloride channel activity [GO:0005254] | PF13410;PF13409; | 1.20.1050.10;3.40.30.10; | Chloride channel CLIC family | PTM: Hydrogen peroxide treatment causes a conformation change, leading to dimerization and formation of an intramolecular disulfide bond between Cys-24 and Cys-59. | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12681486, ECO:0000269|PubMed:9139710}. Nucleus membrane {ECO:0000269|PubMed:9139710}; Single-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:10793131, ECO:0000269|PubMed:11551966, ECO:0000269|PubMed:12681486, ECO:0000269|PubMed:9139710, ECO:0000305|Pu... | CATALYTIC ACTIVITY: Reaction=chloride(in) = chloride(out); Xref=Rhea:RHEA:29823, ChEBI:CHEBI:17996; Evidence={ECO:0000269|PubMed:11195932, ECO:0000269|PubMed:11551966, ECO:0000269|PubMed:11978800, ECO:0000269|PubMed:14613939, ECO:0000269|PubMed:9139710}; | null | null | null | null | FUNCTION: Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Involved in regulation of the cell cycle. {ECO:0000269|PubMed:10834939, ECO:0000269|PubMed:11195932, ECO:0000269|PubMed:11... | Homo sapiens (Human) |
O00300 | TR11B_HUMAN | MNNLLCCALVFLDISIKWTTQETFPPKYLHYDEETSHQLLCDKCPPGTYLKQHCTAKWKTVCAPCPDHYYTDSWHTSDECLYCSPVCKELQYVKQECNRTHNRVCECKEGRYLEIEFCLKHRSCPPGFGVVQAGTPERNTVCKRCPDGFFSNETSSKAPCRKHTNCSVFGLLLTQKGNATHDNICSGNSESTQKCGIDVTLCEEAFFRFAVPTKFTPNWLSVLVDNLPGTKVNAESVERIKRQHSSQEQTFQLLKLWKHQNKDQDIVKKIIQDIDLCENSVQRHIGHANLTFEQLRSLMESLPGKKVGAEDIEKTIKACK... | null | null | apoptotic process [GO:0006915]; extracellular matrix organization [GO:0030198]; negative regulation of bone resorption [GO:0045779]; negative regulation of odontogenesis of dentin-containing tooth [GO:0042489]; negative regulation of osteoclast differentiation [GO:0045671]; negative regulation of tumor necrosis factor-... | extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; receptor complex [GO:0043235] | cytokine activity [GO:0005125]; heparan sulfate binding [GO:1904399]; signaling receptor activity [GO:0038023] | PF00531;PF00020; | 1.10.533.10;2.10.50.10; | null | PTM: N-glycosylated. Contains sialic acid residues. {ECO:0000269|PubMed:22664871}.; PTM: The N-terminus is blocked. | SUBCELLULAR LOCATION: Secreted. | null | null | null | null | null | FUNCTION: Acts as a decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between TNFSF11 and TNFRSF11B. May also play a role in preventing arteri... | Homo sapiens (Human) |
O00303 | EIF3F_HUMAN | MATPAVPVSAPPATPTPVPAAAPASVPAPTPAPAAAPVPAAAPASSSDPAAAAAATAAPGQTPASAQAPAQTPAPALPGPALPGPFPGGRVVRLHPVILASIVDSYERRNEGAARVIGTLLGTVDKHSVEVTNCFSVPHNESEDEVAVDMEFAKNMYELHKKVSPNELILGWYATGHDITEHSVLIHEYYSREAPNPIHLTVDTSLQNGRMSIKAYVSTLMGVPGRTMGVMFTPLTVKYAYYDTERIGVDLIMKTCFSPNRVIGLSSDLQQVGGASARIQDALSTVLQYAEDVLSGKVSADNTVGRFLMSLVNQVPKIVP... | 3.4.19.12 | null | formation of cytoplasmic translation initiation complex [GO:0001732]; IRES-dependent viral translational initiation [GO:0075522]; protein deubiquitination [GO:0016579]; proteolysis [GO:0006508]; translational initiation [GO:0006413] | cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; eukaryotic translation initiation factor 3 complex, eIF3m [GO:0071541]; membrane [GO:0016020]; synapse [GO:0045202] | cysteine-type deubiquitinase activity [GO:0004843]; identical protein binding [GO:0042802]; metal-dependent deubiquitinase activity [GO:0140492]; translation initiation factor activity [GO:0003743]; translation initiation factor binding [GO:0031369] | PF01398;PF13012; | 3.40.140.10; | EIF-3 subunit F family | PTM: Phosphorylation is enhanced upon serum stimulation. Phosphorylated during apoptosis by caspase-processed CDK11. {ECO:0000269|PubMed:12446680, ECO:0000269|PubMed:17322308}. | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03005}. | CATALYTIC ACTIVITY: Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:21124883}; | null | null | null | null | FUNCTION: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-... | Homo sapiens (Human) |
O00305 | CACB4_HUMAN | MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPA... | null | null | adult walking behavior [GO:0007628]; cAMP metabolic process [GO:0046058]; cellular response to leukemia inhibitory factor [GO:1990830]; chemical synaptic transmission [GO:0007268]; detection of light stimulus involved in visual perception [GO:0050908]; gamma-aminobutyric acid secretion [GO:0014051]; gamma-aminobutyric ... | cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; synapse [GO:0045202]; voltage-gated calcium channel complex [GO:0005891] | protein kinase binding [GO:0019901]; voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels [GO:0099626] | PF00625;PF12052; | 3.40.50.300;2.30.30.40; | Calcium channel beta subunit family | null | null | null | null | null | null | null | FUNCTION: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. {ECO:0000269|P... | Homo sapiens (Human) |
O00308 | WWP2_HUMAN | MASASSSRAGVALPFEKSQLTLKVVSAKPKVHNRQPRINSYVEVAVDGLPSETKKTGKRIGSSELLWNEIIILNVTAQSHLDLKVWSCHTLRNELLGTASVNLSNVLKNNGGKMENMQLTLNLQTENKGSVVSGGELTIFLDGPTVDLGNVPNGSALTDGSQLPSRDSSGTAVAPENRHQPPSTNCFGGRSRTHRHSGASARTTPATGEQSPGARSRHRQPVKNSGHSGLANGTVNDEPTTATDPEEPSVVGVTSPPAAPLSVTPNPNTTSLPAPATPAEGEEPSTSGTQQLPAAAQAPDALPAGWEQRELPNGRVYYVD... | 2.3.2.26 | null | extracellular transport [GO:0006858]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of DNA-templated transcription [GO:0045892]; negative regulation of gene expression [GO:0010629]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of p... | cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151] | RNA polymerase II-specific DNA-binding transcription factor binding [GO:0061629]; transcription factor binding [GO:0008134]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842] | PF00632;PF00397; | 2.20.70.10;2.60.40.150;3.30.2160.10;3.30.2410.10;3.90.1750.10; | null | PTM: Autoubiquitinated. Ubiquitinated by the SCF(FBXL15) complex, leading to its degradation by the proteasome. {ECO:0000269|PubMed:19343052, ECO:0000269|PubMed:21572392}. | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19274063, ECO:0000269|PubMed:20858735}. | CATALYTIC ACTIVITY: Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.26; Evidence={ECO:0000269|PubMed:19274063, ECO:0000269|PubMed:19651900}; | null | PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:19274063, ECO:0000269|PubMed:19651900}. | null | null | FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Polyubiquitinates POU5F1 by 'Lys-63'-linked conjugation and promotes it to proteasomal degradation; in embryonic stem cells (... | Homo sapiens (Human) |
O00311 | CDC7_HUMAN | MEASLGIQMDEPMAFSPQRDRFQAEGSLKKNEQNFKLAGVKKDIEKLYEAVPQLSNVFKIEDKIGEGTFSSVYLATAQLQVGPEEKIALKHLIPTSHPIRIAAELQCLTVAGGQDNVMGVKYCFRKNDHVVIAMPYLEHESFLDILNSLSFQEVREYMLNLFKALKRIHQFGIVHRDVKPSNFLYNRRLKKYALVDFGLAQGTHDTKIELLKFVQSEAQQERCSQNKSHIITGNKIPLSGPVPKELDQQSTTKASVKRPYTNAQIQIKQGKDGKEGSVGLSVQRSVFGERNFNIHSSISHESPAVKLMKQSKTVDVLSRK... | 2.7.11.1 | COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; | cell cycle phase transition [GO:0044770]; cell division [GO:0051301]; double-strand break repair via break-induced replication [GO:0000727]; G1/S transition of mitotic cell cycle [GO:0000082]; mitotic DNA damage checkpoint signaling [GO:0044773]; phosphorylation [GO:0016310]; positive regulation of cell population prol... | cytoplasm [GO:0005737]; intercellular bridge [GO:0045171]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | ATP binding [GO:0005524]; kinase activity [GO:0016301]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine kinase activity [GO:0106310]; protein serine/threonine kinase activity [GO:0004674] | PF00069; | 1.10.510.10; | Protein kinase superfamily, Ser/Thr protein kinase family, CDC7 subfamily | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:27401717}. | CATALYTIC ACTIVITY: Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:27401717}; Physiolog... | null | null | null | null | FUNCTION: Kinase involved in initiation of DNA replication. Phosphorylates critical substrates that regulate the G1/S phase transition and initiation of DNA replication, such as MCM proteins and CLASPIN. {ECO:0000269|PubMed:12065429, ECO:0000269|PubMed:27401717}. | Homo sapiens (Human) |
O00322 | UPK1A_HUMAN | MASAAAAEAEKGSPVVVGLLVVGNIIILLSGLSLFAETIWVTADQYRVYPLMGVSGKDDVFAGAWIAIFCGFSFFMVASFGVGAALCRRRSMVLTYLVLMLIVYIFECASCITSYTHRDYMVSNPSLITKQMLTFYSADTDQGQELTRLWDRVMIEQECCGTSGPMDWVNFTSAFRAATPEVVFPWPPLCCRRTGNFIPLNEEGCRLGHMDYLFTKGCFEHIGHAIDSYTWGISWFGFAILMWTLPVMLIAMYFYTML | null | null | epithelial cell differentiation [GO:0030855] | apical plasma membrane urothelial plaque [GO:0120001]; cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991] | null | PF00335; | 1.10.1450.10; | Tetraspanin (TM4SF) family | null | SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. | null | null | null | null | null | FUNCTION: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apica... | Homo sapiens (Human) |
O00327 | BMAL1_HUMAN | MADQRMDISSTISDFMSPGPTDLLSSSLGTSGVDCNRKRKGSSTDYQESMDTDKDDPHGRLEYTEHQGRIKNAREAHSQIEKRRRDKMNSFIDELASLVPTCNAMSRKLDKLTVLRMAVQHMKTLRGATNPYTEANYKPTFLSDDELKHLILRAADGFLFVVGCDRGKILFVSESVFKILNYSQNDLIGQSLFDYLHPKDIAKVKEQLSSSDTAPRERLIDAKTGLPVKTDITPGPSRLCSGARRSFFCRMKCNRPSVKVEDKDFPSTCSKKKADRKSFCTIHSTGYLKSWPPTKMGLDEDNEPDNEGCNLSCLVAIGRL... | null | null | circadian regulation of gene expression [GO:0032922]; circadian rhythm [GO:0007623]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of DNA-templated transcription [GO:0045892]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of glucocorticoid recept... | aryl hydrocarbon receptor complex [GO:0034751]; chromatin [GO:0000785]; chromatoid body [GO:0033391]; CLOCK-BMAL transcription complex [GO:1990513]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605] | aryl hydrocarbon receptor binding [GO:0017162]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription factor binding [GO:0140297]; E-box binding [GO:0070888]; Hsp90 protein binding [GO:0051879]; protein dimerization activity [GO:0046983];... | PF00010;PF00989;PF14598; | 4.10.280.10;3.30.450.20; | null | PTM: Ubiquitinated, leading to its proteasomal degradation (PubMed:24728990). Deubiquitinated by USP9X (PubMed:29626158). {ECO:0000269|PubMed:24728990, ECO:0000269|PubMed:29626158}.; PTM: O-glycosylated; contains O-GlcNAc. O-glycosylation by OGT prevents protein degradation by inhibiting ubiquitination. It also stabili... | SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:24005054}. Cytoplasm {ECO:0000250|UniProtKB:Q9WTL8}. Nucleus, PML body {ECO:0000250|UniProtKB:Q9WTL8}. Note=Shuttles between the nucleus and the cytoplasm and this nucleocytoplasmic shuttling is essential for the nuclear accumulatio... | null | null | null | null | null | FUNCTION: Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism a... | Homo sapiens (Human) |
O00329 | PK3CD_HUMAN | MPPGVDCPMEFWTKEENQSVVVDFLLPTGVYLNFPVSRNANLSTIKQLLWHRAQYEPLFHMLSGPEAYVFTCINQTAEQQELEDEQRRLCDVQPFLPVLRLVAREGDRVKKLINSQISLLIGKGLHEFDSLCDPEVNDFRAKMCQFCEEAAARRQQLGWEAWLQYSFPLQLEPSAQTWGPGTLRLPNRALLVNVKFEGSEESFTFQVSTKDVPLALMACALRKKATVFRQPLVEQPEDYTLQVNGRHEYLYGSYPLCQFQYICSCLHSGLTPHLTMVHSSSILAMRDEQSNPAPQVQKPRAKPPPIPAKKPSSVSLWSLE... | 2.7.1.137; 2.7.1.153 | null | adaptive immune response [GO:0002250]; B cell activation [GO:0042113]; B cell chemotaxis [GO:0035754]; B cell differentiation [GO:0030183]; B cell receptor signaling pathway [GO:0050853]; immune response [GO:0006955]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; mast cell chemotaxis [GO:0002... | cytoplasm [GO:0005737]; cytosol [GO:0005829]; phosphatidylinositol 3-kinase complex [GO:0005942]; phosphatidylinositol 3-kinase complex, class IA [GO:0005943]; plasma membrane [GO:0005886] | 1-phosphatidylinositol-3-kinase activity [GO:0016303]; 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; 1-phosphatidylinositol-4-phosphate 3-kinase activity [GO:0035005]; ATP binding [GO:0005524]; kinase activity [GO:0016301] | PF00454;PF00792;PF02192;PF00794;PF00613; | 3.10.20.770;2.60.40.150;1.10.1070.11;1.25.40.70; | PI3/PI4-kinase family | PTM: Autophosphorylation on Ser-1039 results in the almost complete inactivation of the lipid kinase activity. {ECO:0000269|PubMed:10064595}. | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22020336}. | CATALYTIC ACTIVITY: Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + ADP + H(+); Xref=Rhea:RHEA:21292, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57836, ChEBI:CHEBI:58456, ChEBI:CHEBI:456216; EC=2.7.1.1... | null | PATHWAY: Phospholipid metabolism; phosphatidylinositol phosphate biosynthesis. {ECO:0000305|PubMed:15135396, ECO:0000305|PubMed:9113989}. | null | null | FUNCTION: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:9235916). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphospha... | Homo sapiens (Human) |
O00330 | ODPX_HUMAN | MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKILMPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSLDASQGTATGPRGIFTKEDALKLVQLKQTGKITESRPTPAPTATPTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPHAYATADCDLGAVLKVRQDLV... | null | null | acetyl-CoA biosynthetic process from pyruvate [GO:0006086] | mitochondrial matrix [GO:0005759]; mitochondrial pyruvate dehydrogenase complex [GO:0005967]; mitochondrion [GO:0005739]; pyruvate dehydrogenase complex [GO:0045254] | acyltransferase activity [GO:0016746] | PF00198;PF00364;PF02817; | 2.40.50.100;3.30.559.10;4.10.320.10; | 2-oxoacid dehydrogenase family | PTM: Delipoylated at Lys-97 by SIRT4, delipoylation decreases the PHD complex activity. {ECO:0000269|PubMed:25525879}. | SUBCELLULAR LOCATION: Mitochondrion matrix. | null | null | null | null | null | FUNCTION: Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex. | Homo sapiens (Human) |
O00337 | S28A1_HUMAN | MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAAFLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSWRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRIFLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT... | null | null | azole transmembrane transport [GO:0045117]; cytidine transport [GO:0015861]; nucleoside import across plasma membrane [GO:0180015]; nucleoside transmembrane transport [GO:1901642]; purine nucleobase transmembrane transport [GO:1904823]; pyrimidine nucleobase transport [GO:0015855]; pyrimidine-containing compound transm... | apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886] | azole transmembrane transporter activity [GO:1901474]; cytidine transmembrane transporter activity [GO:0015212]; nucleoside:sodium symporter activity [GO:0005415]; purine nucleobase transmembrane transporter activity [GO:0005345]; pyrimidine- and adenosine-specific:sodium symporter activity [GO:0015389]; uridine transm... | PF07670;PF07662;PF01773; | null | Concentrative nucleoside transporter (CNT) (TC 2.A.41) family | PTM: N-glycosylated. N-glycosylation is required for localization to the plasma membrane and the transporter activity. {ECO:0000269|PubMed:30658162}. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21998139}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q62674}. Apical cell membrane {ECO:0000269|PubMed:21998139}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q62674}. | CATALYTIC ACTIVITY: Reaction=Na(+)(out) + uridine(out) = Na(+)(in) + uridine(in); Xref=Rhea:RHEA:69887, ChEBI:CHEBI:16704, ChEBI:CHEBI:29101; Evidence={ECO:0000269|PubMed:10455109, ECO:0000269|PubMed:14701834, ECO:0000269|PubMed:21795683, ECO:0000269|PubMed:21998139, ECO:0000269|PubMed:32126230, ECO:0000269|PubMed:9124... | null | null | null | null | FUNCTION: Sodium and pyrimidine nucleoside symporter of the plasma membrane that imports uridine, thymidine and cytidine into cells by coupling their transport to the transmembrane sodium electrochemical gradient. Also transports adenosine, an atypical substrate transported with high apparent affinity, but low maximum ... | Homo sapiens (Human) |
O00338 | ST1C2_HUMAN | MALTSDLGKQIKLKEVEGTLLQPATVDNWSQIQSFEAKPDDLLICTYPKAGTTWIQEIVDMIEQNGDVEKCQRAIIQHRHPFIEWARPPQPSGVEKAKAMPSPRILKTHLSTQLLPPSFWENNCKFLYVARNAKDCMVSYYHFQRMNHMLPDPGTWEEYFETFINGKVVWGSWFDHVKGWWEMKDRHQILFLFYEDIKRDPKHEIRKVMQFMGKKVDETVLDKIVQETSFEKMKENPMTNRSTVSKSILDQSISSFMRKGTVGDWKNHFTVAQNERFDEIYRRKMEGTSINFCMEL | 2.8.2.1 | null | amine metabolic process [GO:0009308]; sulfation [GO:0051923] | cytoplasm [GO:0005737]; cytosol [GO:0005829]; lysosome [GO:0005764] | aryl sulfotransferase activity [GO:0004062]; sulfotransferase activity [GO:0008146] | PF00685; | 3.40.50.300; | Sulfotransferase 1 family | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O46503}. Lysosome {ECO:0000250|UniProtKB:Q9WUW8}. | CATALYTIC ACTIVITY: Reaction=3'-phosphoadenylyl sulfate + a phenol = adenosine 3',5'-bisphosphate + an aryl sulfate + H(+); Xref=Rhea:RHEA:12164, ChEBI:CHEBI:15378, ChEBI:CHEBI:33853, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:140317; EC=2.8.2.1; Evidence={ECO:0000269|PubMed:10481272, ECO:0000269|PubMed:10783263... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=13.3 mM for p-nitrophenol {ECO:0000269|PubMed:10481272}; Vmax=0.005 nmol/min/mg enzyme with p-nitrophenol as substrate {ECO:0000269|PubMed:10481272}; | null | null | null | FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic compounds. Does not sulfonate steroids, dopamine, acetaminophen, or alpha-naphthol (PubMed:10481272, PubMed:10783263, PubMed:9852044). Catalyzes the sulfonation of the carcin... | Homo sapiens (Human) |
O00339 | MATN2_HUMAN | MEKMLAGCFLLILGQIVLLPAEARERSRGRSISRGRHARTHPQTALLESSCENKRADLVFIIDSSRSVNTHDYAKVKEFIVDILQFLDIGPDVTRVGLLQYGSTVKNEFSLKTFKRKSEVERAVKRMRHLSTGTMTGLAIQYALNIAFSEAEGARPLRENVPRVIMIVTDGRPQDSVAEVAAKARDTGILIFAIGVGQVDFNTLKSIGSEPHEDHVFLVANFSQIETLTSVFQKKLCTAHMCSTLEHNCAHFCINIPGSYVCRCKQGYILNSDQTTCRIQDLCAMEDHNCEQLCVNVPGSFVCQCYSGYALAEDGKRCVA... | null | null | axon guidance [GO:0007411]; dendrite regeneration [GO:0031104]; extracellular matrix organization [GO:0030198]; glial cell migration [GO:0008347]; neuron migration [GO:0001764]; response to axon injury [GO:0048678] | basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; matrilin complex [GO:0120216] | calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201] | PF12662;PF07645;PF14670;PF10393;PF00092; | 1.20.5.30;2.10.25.10;3.40.50.410; | null | null | SUBCELLULAR LOCATION: Secreted. | null | null | null | null | null | FUNCTION: Involved in matrix assembly. {ECO:0000250}. | Homo sapiens (Human) |
O00341 | EAA5_HUMAN | MVPHAILARGRDVCRRNGLLILSVLSVIVGCLLGFFLRTRRLSPQEISYFQFPGELLMRMLKMMILPLVVSSLMSGLASLDAKTSSRLGVLTVAYYLWTTFMAVIVGIFMVSIIHPGSAAQKETTEQSGKPIMSSADALLDLIRNMFPANLVEATFKQYRTKTTPVVKSPKVAPEEAPPRRILIYGVQEENGSHVQNFALDLTPPPEVVYKSEPGTSDGMNVLGIVFFSATMGIMLGRMGDSGAPLVSFCQCLNESVMKIVAVAVWYFPFGIVFLIAGKILEMDDPRAVGKKLGFYSVTVVCGLVLHGLFILPLLYFFIT... | null | null | chloride transmembrane transport [GO:1902476]; dicarboxylic acid transport [GO:0006835]; L-glutamate transmembrane transport [GO:0015813]; monoatomic ion transport [GO:0006811]; neurotransmitter transport [GO:0006836]; neurotransmitter uptake [GO:0001504] | plasma membrane [GO:0005886]; postsynapse [GO:0098794]; synaptic membrane [GO:0097060] | extracellularly glutamate-gated chloride channel activity [GO:0008068]; glutamate:sodium symporter activity [GO:0015501]; high-affinity L-glutamate transmembrane transporter activity [GO:0005314]; L-glutamate transmembrane transporter activity [GO:0005313]; neutral L-amino acid transmembrane transporter activity [GO:00... | PF00375; | 1.10.3860.10; | Dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family, SLC1A7 subfamily | null | SUBCELLULAR LOCATION: Photoreceptor inner segment membrane {ECO:0000250|UniProtKB:Q8JZR4}; Multi-pass membrane protein {ECO:0000255}. Synaptic cell membrane {ECO:0000250|UniProtKB:Q8JZR4}; Multi-pass membrane protein {ECO:0000255}. Note=Located in both cone and rod photoreceptor terminals and in axon terminals of rod b... | CATALYTIC ACTIVITY: Reaction=H(+)(out) + K(+)(in) + L-glutamate(out) + 3 Na(+)(out) = H(+)(in) + K(+)(out) + L-glutamate(in) + 3 Na(+)(in); Xref=Rhea:RHEA:70699, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:29985; Evidence={ECO:0000269|PubMed:9108121}; CATALYTIC ACTIVITY: Reaction=H(+)(out) + K(... | null | null | null | null | FUNCTION: Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (Pu... | Homo sapiens (Human) |
O00358 | FOXE1_HUMAN | MTAESGPPPPQPEVLATVKEERGETAAGAGVPGEATGRGAGGRRRKRPLQRGKPPYSYIALIAMAIAHAPERRLTLGGIYKFITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGRPGKGNYWALDPNAEDMFESGSFLRRRKRFKRSDLSTYPAYMHDAAAAAAAAAAAAAAAAIFPGAVPAARPPYPGAVYAGYAPPSLAAPPPVYYPAASPGPCRVFGLVPERPLSPELGPAPSGPGGSCAFASAGAPATTTGYQPAGCTGARPANPSAYAAAYAGPDGAYPQGAGSAIFAAAGRLAGPASPPAGGSSGGVET... | null | null | anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; chordate pharynx development [GO:0160093]; cranial skeletal system development [GO:1904888]; embryonic organ morphogenesis [GO:0048562]; hair follicle morphogenesis [GO:0031069]; hard palate development [GO:... | chromatin [GO:0000785]; nucleus [GO:0005634] | DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II cis-regulatory region sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:19... | PF00250; | 1.10.10.10; | null | PTM: Phosphorylated. {ECO:0000250}. | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21177256}. | null | null | null | null | null | FUNCTION: Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenes... | Homo sapiens (Human) |
O00370 | LORF2_HUMAN | MTGSNSHITILTLNVNGLNSPIKRHRLASWIKSQDPSVCCIQETHLTCRDTHRLKIKGWRKIYQANGKQKKAGVAILVSDKTDFKPTKIKRDKEGHYIMVKGSIQQEELTILNIYAPNTGAPRFIKQVLSDLQRDLDSHTLIMGDFNTPLSILDRSTRQKVNKDTQELNSALHQTDLIDIYRTLHPKSTEYTFFSAPHHTYSKIDHIVGSKALLSKCKRTEIITNYLSDHSAIKLELRIKNLTQSRSTTWKLNNLLLNDYWVHNEMKAEIKMFFETNENKDTTYQNLWDAFKAVCRGKFIALNAYKRKQERSKIDTLTSQ... | 2.7.7.49; 3.1.21.- | null | DNA recombination [GO:0006310]; nucleic acid metabolic process [GO:0090304]; retrotransposition [GO:0032197] | null | metal ion binding [GO:0046872]; RNA binding [GO:0003723]; RNA-directed DNA polymerase activity [GO:0003964]; type II site-specific deoxyribonuclease activity [GO:0009036] | PF03372;PF00078; | 3.60.10.10; | null | null | null | CATALYTIC ACTIVITY: Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:17339, Rhea:RHEA-COMP:17340, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:173112; EC=2.7.7.49; Evidence={ECO:0000255|PROSITE-ProRule:PRU00405, ECO:0000269|PubMed:9140393}; | null | null | null | null | FUNCTION: Has reverse transcriptase activity required for target-primed reverse transcription of the LINE-1 element mRNA, a crucial step in LINE-1 retrotransposition (PubMed:7516468, PubMed:9140393). Also has endonuclease activity that allows the introduction of nicks in the chromosomal target DNA (PubMed:17626046, Pub... | Homo sapiens (Human) |
O00391 | QSOX1_HUMAN | MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTLLQADTVRGAVLGSRSAWAVEFFASWCGHCIAFAPTWKALAEDVKAWRPALYLAALDCAEETNSAVCRDFNIPGFPTVRFFKAFTKNGSGAVFPVAGADVQTLRERLIDALESHHDTWPPACPPLEPAKLEEIDGFFARNNEEYLALIFEKGGSYLGREVALDLSQHKGVAVRRVLNTEANVVRKFGVTDFPSCYLLFRNGSVSRVPVLMESRSFYTAYLQRLSGLTREAAQTTVAPTTANKIAPTVWKLADRSKIYMADLESALHYILRIEVGRFP... | 1.8.3.2 | COFACTOR: Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269|PubMed:18393449, ECO:0000269|PubMed:20211621}; Note=Binds 1 FAD per subunit. {ECO:0000269|PubMed:18393449, ECO:0000269|PubMed:20211621}; | extracellular matrix assembly [GO:0085029]; negative regulation of macroautophagy [GO:0016242]; protein folding [GO:0006457] | endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intercellular bridge [GO:0045171]; intracellular membrane-bounded organelle [GO:0043231]; platelet alpha granule l... | FAD binding [GO:0071949]; flavin-dependent sulfhydryl oxidase activity [GO:0016971]; protein disulfide isomerase activity [GO:0003756] | PF04777;PF18371;PF18108;PF00085; | 1.20.120.310;3.40.30.10;1.20.120.1960; | Quiescin-sulfhydryl oxidase (QSOX) family | PTM: N-glycosylated (PubMed:17331072, PubMed:29757379). O-glycosylated on Thr and Ser residues (PubMed:29757379). {ECO:0000269|PubMed:17331072, ECO:0000269|PubMed:29757379}. | SUBCELLULAR LOCATION: [Isoform 1]: Golgi apparatus membrane {ECO:0000269|PubMed:17331072, ECO:0000269|PubMed:23704371}; Single-pass membrane protein {ECO:0000305|PubMed:17331072}. Secreted {ECO:0000269|PubMed:29757379}. Note=A small proportion is secreted, probably via a proteolytic cleavage that removes the membrane a... | CATALYTIC ACTIVITY: Reaction=O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'; Xref=Rhea:RHEA:17357, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:16520, ChEBI:CHEBI:17412; EC=1.8.3.2; Evidence={ECO:0000269|PubMed:18393449, ECO:0000269|PubMed:22801504, ECO:0000269|PubMed:23704371, ECO:0000269|PubMed:23867277, ECO:0000269|P... | null | null | null | null | FUNCTION: Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide (PubMed:17331072, PubMed:18393449, PubMed:23704371, PubMed:23867277, PubMed:30367560). Plays a role in disulfide bond formation in a variety of extracellular proteins (Pub... | Homo sapiens (Human) |
O00399 | DCTN6_HUMAN | MAEKTQKSVKIAPGAVVCVESEIRGDVTIGPRTVIHPKARIIAEAGPIVIGEGNLIEEQALIINAYPDNITPDTEDPEPKPMIIGTNNVFEVGCYSQAMKMGDNNVIESKAYVGRNVILTSGCIIGACCNLNTFEVIPENTVIYGADCLRRVQTERPQPQTLQLDFLMKILPNYHHLKKTMKGSSTPVKN | null | null | mitotic spindle organization [GO:0007052] | centrosome [GO:0005813]; cytosol [GO:0005829]; dynactin complex [GO:0005869]; kinetochore [GO:0000776] | dynein complex binding [GO:0070840] | null | 2.160.10.10; | Dynactin subunits 5/6 family, Dynactin subunit 6 subfamily | PTM: Phosphorylation at Thr-186 by CDK1 during mitotic prometaphase creates a binding site for PLK1 that facilitates its recruitment to kinetochores. {ECO:0000269|PubMed:23455152}. | SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:D0G6S1}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:23455152}. | null | null | null | null | null | FUNCTION: Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. {ECO:0000269|PubMed:23455152}. | Homo sapiens (Human) |
O00400 | ACATN_HUMAN | MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDFLFFWGTVFLITTTLVALLKKENEVSVVKEETQGITDTYKLLFAIIKMPAVLTFCLLILTA... | null | null | acetyl-CoA transmembrane transport [GO:0035348]; transmembrane transport [GO:0055085] | endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; plasma membrane [GO:0005886] | acetyl-CoA transmembrane transporter activity [GO:0008521]; protein homodimerization activity [GO:0042803] | PF13000; | 1.20.1250.20; | SLC33A transporter family | null | SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:20826464, ECO:0000269|PubMed:24828632}; Multi-pass membrane protein {ECO:0000255}. | CATALYTIC ACTIVITY: Reaction=acetyl-CoA(in) = acetyl-CoA(out); Xref=Rhea:RHEA:75039, ChEBI:CHEBI:57288; Evidence={ECO:0000269|PubMed:20826464, ECO:0000269|PubMed:24828632}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:75040; Evidence={ECO:0000269|PubMed:20826464, ECO:0000269|PubMed:24828632}; | null | null | null | null | FUNCTION: Acetyl-CoA transporter that mediates active acetyl-CoA import through the endoplasmic reticulum (ER) membrane into the ER lumen where specific ER-based acetyl-CoA:lysine acetyltransferases are responsible for the acetylation of ER-based protein substrates, such as BACE1 (PubMed:20826464, PubMed:24828632). Nec... | Homo sapiens (Human) |
O00401 | WASL_HUMAN | MSSVQQQPPPPRRVTNVGSLLLTPQENESLFTFLGKKCVTMSSAVVQLYAADRNCMWSKKCSGVACLVKDNPQRSYFLRIFDIKDGKLLWEQELYNNFVYNSPRGYFHTFAGDTCQVALNFANEEEAKKFRKAVTDLLGRRQRKSEKRRDPPNGPNLPMATVDIKNPEITTNRFYGPQVNNISHTKEKKKGKAKKKRLTKADIGTPSNFQHIGHVGWDPNTGFDLNNLDPELKNLFDMCGISEAQLKDRETSKVIYDFIEKTGGVEAVKNELRRQAPPPPPPSRGGPPPPPPPPHNSGPPPPPARGRGAPPPPPSRAPTA... | null | null | actin filament polymerization [GO:0030041]; actin polymerization or depolymerization [GO:0008154]; cell division [GO:0051301]; dendritic spine morphogenesis [GO:0060997]; negative regulation of lymphocyte migration [GO:2000402]; negative regulation of membrane tubulation [GO:1903526]; positive regulation of clathrin-de... | actin cap [GO:0030478]; actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endocytic vesicle membrane [GO:0030666]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; lamellipodium [GO:0030027... | actin binding [GO:0003779]; GTPase regulator activity [GO:0030695]; microtubule binding [GO:0008017] | PF00786;PF00568;PF02205; | 3.90.810.10;2.30.29.30; | null | PTM: Phosphorylation at Ser-242, Tyr-256, Ser-484 and Ser-485 enhances actin polymerization activity. {ECO:0000269|PubMed:16257963}. | SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9422512}. Nucleus {ECO:0000269|PubMed:16767080}. Cytoplasm {ECO:0000250|UniProtKB:Q91YD9}. Note=Preferentially localized in the cytoplasm when phosphorylated and in the nucleus when unphosphorylated (By similarity). Exported from the nucleus by an nuclea... | null | null | null | null | null | FUNCTION: Regulates actin polymerization by stimulating the actin-nucleating activity of the Arp2/3 complex (PubMed:16767080, PubMed:19366662, PubMed:19487689, PubMed:22847007, PubMed:22921828, PubMed:9422512). Involved in various processes, such as mitosis and cytokinesis, via its role in the regulation of actin polym... | Homo sapiens (Human) |
O00408 | PDE2A_HUMAN | MGQACGHSILCRSQQYPAARPAEPRGQQVFLKPDEPPPPPQPCADSLQDALLSLGSVIDISGLQRAVKEALSAVLPRVETVYTYLLDGESQLVCEDPPHELPQEGKVREAIISQKRLGCNGLGFSDLPGKPLARLVAPLAPDTQVLVMPLADKEAGAVAAVILVHCGQLSDNEEWSLQAVEKHTLVALRRVQVLQQRGPREAPRAVQNPPEGTAEDQKGGAAYTDRDRKILQLCGELYDLDASSLQLKVLQYLQQETRASRCCLLLVSEDNLQLSCKVIGDKVLGEEVSFPLTGCLGQVVEDKKSIQLKDLTSEDVQQLQ... | 3.1.4.17 | COFACTOR: Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000269|PubMed:15938621, ECO:0000269|PubMed:19828435, ECO:0000269|PubMed:23899287}; Note=Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions. {ECO:0000269|PubMed:15938621, ECO:0000269|PubMed:19828435, ECO:0000269|PubMed:238992... | adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; aorta development [GO:0035904]; cAMP-mediated signaling [GO:0019933]; cellular response to 2,3,7,8-tetrachlorodibenzodioxine [GO:1904613]; cellular response to cAMP [GO:0071320]; cellular response to cGMP [GO:0071321]; cellular resp... | cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial outer membrane [GO:0005741]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO... | 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; cAMP binding [GO:0030552]; cGMP binding [GO:0030553]; cGMP-stimulated cyclic-nucleotide phosphodiesterase activity [GO:0004118]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287];... | PF01590;PF00233; | 3.30.450.40;1.10.1300.10; | Cyclic nucleotide phosphodiesterase family, PDE2 subfamily | null | SUBCELLULAR LOCATION: [Isoform PDE2A3]: Cell membrane {ECO:0000269|PubMed:19632989, ECO:0000269|PubMed:28463107}; Lipid-anchor {ECO:0000269|PubMed:19632989}.; SUBCELLULAR LOCATION: [Isoform PDE2A2]: Mitochondrion matrix {ECO:0000250|UniProtKB:Q922S4}. Mitochondrion inner membrane {ECO:0000269|PubMed:28463107}. Mitochon... | CATALYTIC ACTIVITY: Reaction=a nucleoside 3',5'-cyclic phosphate + H2O = a nucleoside 5'-phosphate + H(+); Xref=Rhea:RHEA:14653, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57867, ChEBI:CHEBI:58464; EC=3.1.4.17; Evidence={ECO:0000269|PubMed:15938621, ECO:0000269|PubMed:29392776, ECO:0000269|PubMed:9210593}; Physi... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=43.7 uM for 3',5'-cyclic GMP {ECO:0000269|PubMed:15938621}; KM=32 uM for 3',5'-cyclic AMP {ECO:0000269|PubMed:15938621}; Vmax=20.5 nmol/min/mg enzyme for 3',5'-cyclic AMP {ECO:0000269|PubMed:9210593}; Vmax=28.5 nmol/min/mg enzyme for 3',5'-cyclic GMP {ECO:0000269|P... | null | null | null | FUNCTION: cGMP-activated cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:15938621, PubMed:29392776, PubMed:9210593). Has a higher efficiency with cGMP compared to cAMP (PubMed:15938621). Plays... | Homo sapiens (Human) |
O00409 | FOXN3_HUMAN | MGPVMPPSKKPESSGISVSSGLSQCYGGSGFSKALQEDDDLDFSLPDIRLEEGAMEDEELTNLNWLHESKNLLKSFGESVLRSVSPVQDLDDDTPPSPAHSDMPYDARQNPNCKPPYSFSCLIFMAIEDSPTKRLPVKDIYNWILEHFPYFANAPTGWKNSVRHNLSLNKCFKKVDKERSQSIGKGSLWCIDPEYRQNLIQALKKTPYHPHPHVFNTPPTCPQAYQSTSGPPIWPGSTFFKRNGALLQDPDIDAASAMMLLNTPPEIQAGFPPGVIQNGARVLSRGLFPGVRPLPITPIGVTAAMRNGITSCRMRTESEP... | null | null | craniofacial suture morphogenesis [GO:0097094]; mitotic G2 DNA damage checkpoint signaling [GO:0007095]; negative regulation of DNA-templated transcription [GO:0045892]; regulation of DNA-templated transcription [GO:0006355] | chromatin [GO:0000785]; nucleus [GO:0005634] | cis-regulatory region sequence-specific DNA binding [GO:0000987]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981] | PF00250; | 1.10.10.10; | null | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. | null | null | null | null | null | FUNCTION: Acts as a transcriptional repressor. May be involved in DNA damage-inducible cell cycle arrests (checkpoints). {ECO:0000269|PubMed:16102918}. | Homo sapiens (Human) |
O00410 | IPO5_HUMAN | MAAAAAEQQQFYLLLGNLLSPDNVVRKQAEETYENIPGQSKITFLLQAIRNTTAAEEARQMAAVLLRRLLSSAFDEVYPALPSDVQTAIKSELLMIIQMETQSSMRKKVCDIAAELARNLIDEDGNNQWPEGLKFLFDSVSSQNVGLREAALHIFWNFPGIFGNQQQHYLDVIKRMLVQCMQDQEHPSIRTLSARATAAFILANEHNVALFKHFADLLPGFLQAVNDSCYQNDDSVLKSLVEIADTVPKYLRPHLEATLQLSLKLCGDTSLNNMQRQLALEVIVTLSETAAAMLRKHTNIVAQTIPQMLAMMVDLEEDED... | null | null | cellular response to amino acid stimulus [GO:0071230]; cytoplasmic pattern recognition receptor signaling pathway [GO:0002753]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; NLS-bearing protein import into nucleus [GO:0006607]; positive regulation of protein import into ... | cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | GTPase inhibitor activity [GO:0005095]; nuclear import signal receptor activity [GO:0061608]; nuclear localization sequence binding [GO:0008139]; RNA binding [GO:0003723]; small GTPase binding [GO:0031267] | PF02985;PF13513;PF18808;PF18816;PF18829; | 1.25.10.10; | Importin beta family, Importin beta-3 subfamily | null | SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Nucleus; nuclear rim. Found particularly in the nuclear rim and nucleolus. | null | null | null | null | null | FUNCTION: Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently tra... | Homo sapiens (Human) |
O00411 | RPOM_HUMAN | MSALCWGRGAAGLKRALRPCGRPGLPGKEGTAGGVCGPRRSSSASPQEQDQDRRKDWGHVELLEVLQARVRQLQAESVSEVVVNRVDVARLPECGSGDGSLQPPRKVQMGAKDATPVPCGRWAKILEKDKRTQQMRMQRLKAKLQMPFQSGEFKALTRRLQVEPRLLSKQMAGCLEDCTRQAPESPWEEQLARLLQEAPGKLSLDVEQAPSGQHSQAQLSGQQQRLLAFFKCCLLTDQLPLAHHLLVVHHGQRQKRKLLTLDMYNAVMLGWARQGAFKELVYVLFMVKDAGLTPDLLSYAAALQCMGRQDQDAGTIERCL... | 2.7.7.6 | null | mitochondrial transcription [GO:0006390]; transcription initiation at mitochondrial promoter [GO:0006391] | mitochondrial DNA-directed RNA polymerase complex [GO:0034245]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; protein-containing complex [GO:0032991] | 3'-5'-RNA exonuclease activity [GO:0000175]; DNA primase activity [GO:0003896]; DNA-directed 5'-3' RNA polymerase activity [GO:0003899]; mitochondrial promoter sequence-specific DNA binding [GO:0001018]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565] | PF00940;PF14700; | 1.10.287.280;1.10.150.20;1.10.1320.10;1.25.40.10; | Phage and mitochondrial RNA polymerase family | null | SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23283301, ECO:0000269|PubMed:29445193}. | CATALYTIC ACTIVITY: Reaction=a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1); Xref=Rhea:RHEA:21248, Rhea:RHEA-COMP:14527, Rhea:RHEA-COMP:17342, ChEBI:CHEBI:33019, ChEBI:CHEBI:61557, ChEBI:CHEBI:140395; EC=2.7.7.6; Evidence={ECO:0000255|PROSITE-ProRule:PRU10031, ECO:0000255|PROSITE-ProRule:PRU10032}; | null | null | null | null | FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:21278163, PubMed:33602924). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for... | Homo sapiens (Human) |
O00418 | EF2K_HUMAN | MADEDLIFRLEGVDGGQSPRAGHDGDSDGDSDDEEGYFICPITDDPSSNQNVNSKVNKYYSNLTKSERYSSSGSPANSFHFKEAWKHAIQKAKHMPDPWAEFHLEDIATERATRHRYNAVTGEWLDDEVLIKMASQPFGRGAMRECFRTKKLSNFLHAQQWKGASNYVAKRYIEPVDRDVYFEDVRLQMEAKLWGEEYNRHKPPKQVDIMQMCIIELKDRPGKPLFHLEHYIEGKYIKYNSNSGFVRDDNIRLTPQAFSHFTFERSGHQLIVVDIQGVGDLYTDPQIHTETGTDFGDGNLGVRGMALFFYSHACNRICES... | 2.7.11.20 | null | cellular response to anoxia [GO:0071454]; cellular response to brain-derived neurotrophic factor stimulus [GO:1990416]; cellular response to calcium ion [GO:0071277]; cellular response to cAMP [GO:0071320]; cellular response to insulin stimulus [GO:0032869]; myosin II filament disassembly [GO:0031037]; negative regulat... | actomyosin contractile ring [GO:0005826]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; postsynaptic density [GO:0014069] | ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; elongation factor-2 kinase activity [GO:0004686]; myosin heavy chain kinase activity [GO:0016905]; protein kinase activity [GO:0004672]; translation factor activity, RNA binding [GO:0008135] | PF02816; | 3.20.200.10;1.25.40.10; | Protein kinase superfamily, Alpha-type protein kinase family | PTM: Autophosphorylated at multiple residues, Thr-348 being the major site. Phosphorylated by AMP-activated protein kinase AMPK at Ser-398 leading to EEF2K activation and protein synthesis inhibition. Phosphorylated by TRPM7 at Ser-78 resulting in improved protein stability, higher EE2F phosphorylated and subsequently ... | null | CATALYTIC ACTIVITY: Reaction=[translation elongation factor 2] + ATP = [translation elongation factor 2]-phosphate + ADP + H(+); Xref=Rhea:RHEA:21436, Rhea:RHEA-COMP:11268, Rhea:RHEA-COMP:11269, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43176, ChEBI:CHEBI:68546, ChEBI:CHEBI:456216; EC=2.7.11.20; Evidence={ECO:0... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1.2 uM for EEF2 {ECO:0000269|PubMed:11015200}; Vmax=4 nmol/min/mg enzyme {ECO:0000269|PubMed:11015200}; | null | null | null | FUNCTION: Threonine kinase that regulates protein synthesis by controlling the rate of peptide chain elongation. Upon activation by a variety of upstream kinases including AMPK or TRPM7, phosphorylates the elongation factor EEF2 at a single site, renders it unable to bind ribosomes and thus inactive. In turn, the rate ... | Homo sapiens (Human) |
O00421 | CCRL2_HUMAN | MANYTLAPEDEYDVLIEGELESDEAEQCDKYDAQALSAQLVPSLCSAVFVIGVLDNLLVVLILVKYKGLKRVENIYLLNLAVSNLCFLLTLPFWAHAGGDPMCKILIGLYFVGLYSETFFNCLLTVQRYLVFLHKGNFFSARRRVPCGIITSVLAWVTAILATLPEFVVYKPQMEDQKYKCAFSRTPFLPADETFWKHFLTLKMNISVLVLPLFIFTFLYVQMRKTLRFREQRYSLFKLVFAIMVVFLLMWAPYNIAFFLSTFKEHFSLSDCKSSYNLDKSVHITKLIATTHCCINPLLYAFLDGTFSKYLCRCFHLRSN... | null | null | calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; positive regulation of cytosolic calcium ion concentration [GO:0007204] | cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; plasma membrane [GO:0005886] | C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; CCR chemokine receptor binding [GO:0048020]; chemokine receptor activity [GO:0004950]; chemokine receptor binding [GO:0042379] | PF00001; | 1.20.1070.10; | G-protein coupled receptor 1 family | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18397265, ECO:0000269|PubMed:20002784}; Multi-pass membrane protein {ECO:0000269|PubMed:18397265, ECO:0000269|PubMed:20002784}. | null | null | null | null | null | FUNCTION: Receptor for CCL19 and chemerin/RARRES2. Does not appear to be a signaling receptor, but may have a role in modulating chemokine-triggered immune responses by capturing and internalizing CCL19 or by presenting RARRES2 ligand to CMKLR1, a functional signaling receptors. Plays a critical role for the developmen... | Homo sapiens (Human) |
O00422 | SAP18_HUMAN | MAVESRVTQEEIKKEPEKPIDREKTCPLLLRVFTTNNGRHHRMDEFSRGNVPSSELQIYTWMDATLKELTSLVKEVYPEARKKGTHFNFAIVFTDVKRPGYRVKEIGSTMSGRKGTDDSMTLQSQKFQIGDYLDIAITPPNRAPPPSGRMRPY | null | null | mRNA processing [GO:0006397]; negative regulation of DNA-templated transcription [GO:0045892]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; positive regulation of apoptotic process [GO:0043065]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of transcription by ... | ASAP complex [GO:0061574]; cytosol [GO:0005829]; histone deacetylase complex [GO:0000118]; nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | RNA binding [GO:0003723]; transcription corepressor activity [GO:0003714] | PF06487; | 3.10.20.550; | SAP18 family | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16314458}. Cytoplasm {ECO:0000269|PubMed:16314458}. Nucleus speckle {ECO:0000269|PubMed:20966198}. Note=Shuttles between the nucleus and the cytoplasm (PubMed:16314458). Colocalizes with ACIN1 and SRSF2 in nuclear speckles (PubMed:20966198). {ECO:0000269|PubMed:16314458... | null | null | null | null | null | FUNCTION: Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) ... | Homo sapiens (Human) |
O00423 | EMAL1_HUMAN | MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIG... | null | null | brain development [GO:0007420]; hematopoietic progenitor cell differentiation [GO:0002244]; microtubule cytoskeleton organization [GO:0000226]; mitotic spindle organization [GO:0007052]; neuroblast proliferation [GO:0007405] | cytosol [GO:0005829]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; mitotic spindle midzone [GO:1990023]; mitotic spindle pole [GO:0097431]; perinuclear region of cytoplasm [GO:0048471] | calcium ion binding [GO:0005509]; microtubule binding [GO:0008017]; tubulin binding [GO:0015631] | PF03451;PF00400; | 2.130.10.10; | WD repeat EMAP family | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q05BC3}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q05BC3}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24859200, ECO:0000269|PubMed:25740311}. Note=Detected in cytoplasmic punctae. Co-localizes with microtubules (PubMed:24859200, PubMed:25740311). Enric... | null | null | null | null | null | FUNCTION: Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain... | Homo sapiens (Human) |
O00425 | IF2B3_HUMAN | MNKLYIGNLSENAAPSDLESIFKDAKIPVSGPFLVKTGYAFVDCPDESWALKAIEALSGKIELHGKPIEVEHSVPKRQRIRKLQIRNIPPHLQWEVLDSLLVQYGVVESCEQVNTDSETAVVNVTYSSKDQARQALDKLNGFQLENFTLKVAYIPDEMAAQQNPLQQPRGRRGLGQRGSSRQGSPGSVSKQKPCDLPLRLLVPTQFVGAIIGKEGATIRNITKQTQSKIDVHRKENAGAAEKSITILSTPEGTSAACKSILEIMHKEAQDIKFTEEIPLKILAHNNFVGRLIGKEGRNLKKIEQDTDTKITISPLQELTL... | null | null | anatomical structure morphogenesis [GO:0009653]; CRD-mediated mRNA stabilization [GO:0070934]; mRNA transport [GO:0051028]; negative regulation of translation [GO:0017148]; nervous system development [GO:0007399]; regulation of cytokine production [GO:0001817]; regulation of gene expression [GO:0010468]; translation [G... | cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; nucleus [GO:0005634]; P-body [GO:0000932] | mRNA 3'-UTR binding [GO:0003730]; mRNA 5'-UTR binding [GO:0048027]; N6-methyladenosine-containing RNA reader activity [GO:1990247]; RNA binding [GO:0003723]; translation regulator activity [GO:0045182] | PF00013;PF00076; | 3.30.310.210;3.30.70.330;3.30.1370.10; | RRM IMP/VICKZ family | null | SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, P-body {ECO:0000269|PubMed:29476152}. Cytoplasm, Stress granule {ECO:0000269|PubMed:29476152}. Note=Found in lamellipodia of the leading edge, in the perinuclear region, and beneath the plasma membrane. The subcytoplasmic localization is cell specific and regulated b... | null | null | null | null | null | FUNCTION: RNA-binding factor that may recruit target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from ... | Homo sapiens (Human) |
O00429 | DNM1L_HUMAN | MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLN... | 3.6.5.5 | null | calcium ion transport [GO:0006816]; endocytosis [GO:0006897]; heart contraction [GO:0060047]; intracellular distribution of mitochondria [GO:0048312]; membrane fusion [GO:0061025]; mitochondrial fission [GO:0000266]; mitochondrial fragmentation involved in apoptotic process [GO:0043653]; mitochondrial membrane fission ... | brush border [GO:0005903]; clathrin-coated pit [GO:0005905]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; microtubule [GO:0005874]... | GTP binding [GO:0005525]; GTP-dependent protein binding [GO:0030742]; GTPase activator activity [GO:0005096]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; microtubule binding [GO:0008017]; protein homodimerization activity [GO:0042803]; small GTPase binding [GO:00312... | PF01031;PF00350;PF02212; | 1.20.120.1240;3.40.50.300; | TRAFAC class dynamin-like GTPase superfamily, Dynamin/Fzo/YdjA family | PTM: Phosphorylation/dephosphorylation events on two sites near the GED domain regulate mitochondrial fission (PubMed:17301055, PubMed:17553808, PubMed:18695047, PubMed:18838687, PubMed:23283981, PubMed:29478834, PubMed:33850055). Phosphorylation on Ser-637 by CAMK1 and PKA inhibits the GTPase activity, leading to a de... | SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11514614, ECO:0000269|PubMed:12618434, ECO:0000269|PubMed:9786947}. Golgi apparatus {ECO:0000269|PubMed:20688057, ECO:0000269|PubMed:9348079, ECO:0000269|PubMed:9570752}. Endomembrane system {ECO:0000269|PubMed:11514614, ECO:0000269|PubMed:9348079, ECO:000026... | CATALYTIC ACTIVITY: Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.5; Evidence={ECO:0000269|PubMed:23977156, ECO:0000269|PubMed:9422767}; | null | null | null | null | FUNCTION: Functions in mitochondrial and peroxisomal division (PubMed:11514614, PubMed:12499366, PubMed:17301055, PubMed:17460227, PubMed:17553808, PubMed:18695047, PubMed:18838687, PubMed:19342591, PubMed:19411255, PubMed:19638400, PubMed:23283981, PubMed:23530241, PubMed:23921378, PubMed:26992161, PubMed:27145208, Pu... | Homo sapiens (Human) |
O00442 | RTCA_HUMAN | MAGPRVEVDGSIMEGGGQILRVSTALSCLLGLPLRVQKIRAGRSTPGLRPQHLSGLEMIRDLCDGQLEGAEIGSTEITFTPEKIKGGIHTADTKTAGSVCLLMQVSMPCVLFAASPSELHLKGGTNAEMAPQIDYTVMVFKPIVEKFGFIFNCDIKTRGYYPKGGGEVIVRMSPVKQLNPINLTERGCVTKIYGRAFVAGVLPFKVAKDMAAAAVRCIRKEIRDLYVNIQPVQEPKDQAFGNGNGIIIIAETSTGCLFAGSSLGKRGVNADKVGIEAAEMLLANLRHGGTVDEYLQDQLIVFMALANGVSRIKTGPVTLH... | 6.5.1.4 | null | negative regulation of optical nerve axon regeneration [GO:1905592]; RNA processing [GO:0006396] | nucleoplasm [GO:0005654]; nucleus [GO:0005634] | ATP binding [GO:0005524]; RNA binding [GO:0003723]; RNA-3'-phosphate cyclase activity [GO:0003963] | PF01137;PF05189; | 3.65.10.20;3.30.360.20; | RNA 3'-terminal cyclase family, Type 1 subfamily | null | SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:9184239}. | CATALYTIC ACTIVITY: Reaction=a 3'-end 3'-phospho-ribonucleotide-RNA + ATP = a 3'-end 2',3'-cyclophospho-ribonucleotide-RNA + AMP + diphosphate; Xref=Rhea:RHEA:23976, Rhea:RHEA-COMP:10463, Rhea:RHEA-COMP:10464, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:83062, ChEBI:CHEBI:83064, ChEBI:CHEBI:456215; EC=6.5.1.4; Ev... | null | null | null | null | FUNCTION: Catalyzes the conversion of 3'-phosphate to a 2',3'-cyclic phosphodiester at the end of RNA (PubMed:9184239). The mechanism of action of the enzyme occurs in 3 steps: (A) adenylation of the enzyme by ATP; (B) transfer of adenylate to an RNA-N3'P to produce RNA-N3'PP5'A; (C) and attack of the adjacent 2'-hydro... | Homo sapiens (Human) |
O00443 | P3C2A_HUMAN | MAQISSNSGFKECPSSHPEPTRAKDVDKEEALQMEAEALAKLQKDRQVTDNQRGFELSSSTRKKAQVYNKQDYDLMVFPESDSQKRALDIDVEKLTQAELEKLLLDDSFETKKTPVLPVTPILSPSFSAQLYFRPTIQRGQWPPGLPGPSTYALPSIYPSTYSKQAAFQNGFNPRMPTFPSTEPIYLSLPGQSPYFSYPLTPATPFHPQGSLPIYRPVVSTDMAKLFDKIASTSEFLKNGKARTDLEITDSKVSNLQVSPKSEDISKFDWLDLDPLSKPKVDNVEVLDHEEEKNVSSLLAKDPWDAVLLEERSTANCHLE... | 2.7.1.137; 2.7.1.153; 2.7.1.154 | COFACTOR: Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:9337861}; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:9337861}; Note=Ca(2+) or Mg(2+). Mn(2+) cannot be used. {ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:93378... | cell migration [GO:0016477]; clathrin coat assembly [GO:0048268]; endocytosis [GO:0006897]; epidermal growth factor receptor signaling pathway [GO:0007173]; exocytosis [GO:0006887]; insulin receptor signaling pathway [GO:0008286]; membrane organization [GO:0061024]; phosphatidylinositol biosynthetic process [GO:0006661... | clathrin-coated vesicle [GO:0030136]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; phosphatidylinositol 3-kinase complex [GO:0005942]; plasma membrane [GO:0005886]; trans-Golgi ne... | 1-phosphatidylinositol-3-kinase activity [GO:0016303]; 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; 1-phosphatidylinositol-4-phosphate 3-kinase activity [GO:0035005]; ATP binding [GO:0005524]; clathrin binding [GO:0030276]; phosphatidylinositol binding [GO:0035091] | PF00168;PF00454;PF00792;PF00794;PF00613;PF00787; | 2.60.40.150;1.10.1070.11;1.25.40.70;3.30.1520.10; | PI3/PI4-kinase family | PTM: Phosphorylated upon insulin stimulation; which may lead to enzyme activation (By similarity). Phosphorylated on Ser-259 during mitosis and upon UV irradiation; which does not change enzymatic activity but leads to proteasomal degradation. Ser-259 phosphorylation may be mediated by CDK1 or JNK, depending on the phy... | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10766823, ECO:0000269|PubMed:11239472, ECO:0000269|PubMed:17038310}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:10766823, ECO:0000269|PubMed:11239472}. Nucleus {ECO:0000269|PubMed:11606566}. Cytoplasm {ECO:0000269|PubMed:11606566, ECO:0000269... | CATALYTIC ACTIVITY: Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:18373, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57658, ChEBI:CHEBI:58178, ChEBI:CHEBI:456216; EC=2.7.1.154; Evid... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=122 uM for PtdIns (in the absence of phosphatidylserine) {ECO:0000269|PubMed:9337861}; KM=64 uM for PtdIns (in the presence of phosphatidylserine) {ECO:0000269|PubMed:9337861}; KM=25 uM for PtdIns4P (in the presence of phosphatidylserine) {ECO:0000269|PubMed:933786... | null | null | null | FUNCTION: Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT... | Homo sapiens (Human) |
O00444 | PLK4_HUMAN | MATCIGEKIEDFKVGNLLGKGSFAGVYRAESIHTGLEVAIKMIDKKAMYKAGMVQRVQNEVKIHCQLKHPSILELYNYFEDSNYVYLVLEMCHNGEMNRYLKNRVKPFSENEARHFMHQIITGMLYLHSHGILHRDLTLSNLLLTRNMNIKIADFGLATQLKMPHEKHYTLCGTPNYISPEIATRSAHGLESDVWSLGCMFYTLLIGRPPFDTDTVKNTLNKVVLADYEMPSFLSIEAKDLIHQLLRRNPADRLSLSSVLDHPFMSRNSSTKSKDLGTVEDSIDSGHATISTAITASSSTSISGSLFDKRRLLIGQPLPN... | 2.7.11.21 | null | centriole replication [GO:0007099]; cilium assembly [GO:0060271]; de novo centriole assembly involved in multi-ciliated epithelial cell differentiation [GO:0098535]; mitotic spindle organization [GO:0007052]; positive regulation of centriole replication [GO:0046601]; protein phosphorylation [GO:0006468]; trophoblast gi... | centriole [GO:0005814]; centrosome [GO:0005813]; cleavage furrow [GO:0032154]; cytosol [GO:0005829]; deuterosome [GO:0098536]; kinetochore [GO:0000776]; nucleolus [GO:0005730]; procentriole [GO:0120098]; procentriole replication complex [GO:0120099]; spindle pole [GO:0000922]; XY body [GO:0001741] | ATP binding [GO:0005524]; identical protein binding [GO:0042802]; protein serine kinase activity [GO:0106310]; protein serine/threonine kinase activity [GO:0004674] | PF00069;PF18190;PF18409; | 2.40.50.930;3.30.1120.120;3.30.1120.130;1.10.510.10; | Protein kinase superfamily, Ser/Thr protein kinase family, CDC5/Polo subfamily | PTM: Acetylation by KAT2A and KAT2B impairs kinase activity by shifting the kinase to an inactive conformation. {ECO:0000269|PubMed:27796307}.; PTM: Ubiquitinated; leading to its degradation by the proteasome. {ECO:0000250}.; PTM: Tyrosine-phosphorylated by TEC. {ECO:0000269|PubMed:11489907}. | SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:27246242, ECO:0000269|PubMed:27796307}. Nucleus, nucleolus {ECO:0000250|UniProtKB:Q64702}. Cleavage furrow {ECO:0000250|UniProtKB:Q64702}. Cytoplasm, cytoskeleton, microtu... | CATALYTIC ACTIVITY: Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.21; Evidence={ECO:0000269|PubMed:16244668, ECO:00002... | null | null | null | null | FUNCTION: Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CCP110, CEP135 and gamma-tubulin. When overexpres... | Homo sapiens (Human) |
O00445 | SYT5_HUMAN | MFPEPPTPGPPSPDTPPDSSRISHGPVPPWALATIVLVSGLLIFSCCFCLYRKSCRRRTGKKSQAQAQVHLQEVKGLGQSYIDKVQPEVEELEPAPSGPGQQVADKHELGRLQYSLDYDFQSGQLLVGILQAMGLAALDLGGSSDPYVRVYLLPDKRRRYETKVHRQTLNPHFGETFAFKVPYVELGGRVLVMAVYDFDRFSRNDAIGEVRVPMSSVDLGRPVQAWRELQAAPREEQEKLGDICFSLRYVPTAGKLTVIVLEAKNLKKMDVGGLSDPYVKVHLLQGGKKVRKKKTTIKKNTLNPYYNEAFSFEVPCDQVQ... | null | COFACTOR: Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000255|PROSITE-ProRule:PRU00041, ECO:0000269|PubMed:27793683}; Note=Binds 3 Ca(2+) ions per subunit. The ions are bound to the C2 domains. {ECO:0000269|PubMed:15057824}; | calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; cellular response to calcium ion [GO:0071277]; chemical synaptic transmission [GO:0007268]; regulation of calcium ion-dependent exocytosis [GO:0017158]; regulation of dopamine secretion [GO:0014059]; synaptic vesicle endocytosis [GO:0048488] | axon [GO:0030424]; dense core granule [GO:0031045]; exocytic vesicle [GO:0070382]; neuronal cell body [GO:0043025]; neuronal dense core vesicle membrane [GO:0099012]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; proximal neuron projection [GO:1990769]; recycling endosome membrane [GO:0055... | calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; clathrin binding [GO:0030276]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; protein heterodimerization activity [GO:0046982]; syntaxin binding [GO:0019905] | PF00168; | 2.60.40.150; | Synaptotagmin family | null | SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Recycling endosome membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=In mast cells, localizes to the endocytic recycling compartment. {ECO:0000250}. | null | null | null | null | null | FUNCTION: May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Regulates the Ca(2+)-dependent secretion of norepinephrine in PC12 cells. Required for export fro... | Homo sapiens (Human) |
O00451 | GFRA2_HUMAN | MILANVFCLFFFLDETLRSLASPSSLQGPELHGWRPPVDCVRANELCAAESNCSSRYRTLRQCLAGRDRNTMLANKECQAALEVLQESPLYDCRCKRGMKKELQCLQIYWSIHLGLTEGEEFYEASPYEPVTSRLSDIFRLASIFSGTGADPVVSAKSNHCLDAAKACNLNDNCKKLRSSYISICNREISPTERCNRRKCHKALRQFFDRVPSEYTYRMLFCSCQDQACAERRRQTILPSCSYEDKEKPNCLDLRGVCRTDHLCRSRLADFHANCRASYQTVTSCPADNYQACLGSYAGMIGFDMTPNYVDSSPTGIVVS... | null | null | glial cell-derived neurotrophic factor receptor signaling pathway [GO:0035860]; nervous system development [GO:0007399]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169] | external side of plasma membrane [GO:0009897]; extrinsic component of membrane [GO:0019898]; plasma membrane [GO:0005886]; receptor complex [GO:0043235] | glial cell-derived neurotrophic factor receptor activity [GO:0016167]; heparan sulfate binding [GO:1904399] | PF02351; | 1.10.220.110; | GDNFR family | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O08842}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:O08842}. | null | null | null | null | null | FUNCTION: Receptor for neurturin (NRTN), a growth factor that supports the survival of sympathetic neurons (PubMed:10829012, PubMed:29414779, PubMed:31535977, PubMed:9182803). NRTN-binding leads to autophosphorylation and activation of the RET receptor (PubMed:31535977). Also able to mediate GDNF signaling through the ... | Homo sapiens (Human) |
O00453 | LST1_HUMAN | MLSRNDDICIYGGLGLGGLLLLAVVLLSACLCWLHRRVKRLERSWAQGSSEQELHYASLQRLPVPSSEGPDLRGRDKRGTKEDPRADYACIAENKPT | null | null | anatomical structure morphogenesis [GO:0009653]; cell morphogenesis [GO:0000902]; dendrite development [GO:0016358]; immune response [GO:0006955]; negative regulation of lymphocyte proliferation [GO:0050672]; regulation of cell shape [GO:0008360] | cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; plasma membrane [GO:0005886] | null | PF05083; | null | LST1 family | null | SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein. Endomembrane system; Single-pass membrane protein. Note=Also detected in a perinuclear region corresponding to the localization of the Golgi apparatus and throughout the cytoplasm. | null | null | null | null | null | FUNCTION: Possible role in modulating immune responses. Induces morphological changes including production of filopodia and microspikes when overexpressed in a variety of cell types and may be involved in dendritic cell maturation. Isoform 1 and isoform 2 have an inhibitory effect on lymphocyte proliferation. {ECO:0000... | Homo sapiens (Human) |
O00459 | P85B_HUMAN | MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGLNERTRQRGDFPGTYVEFLGPVALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSPPDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLSDVDQWDTAALADGIKSFLLALPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVASRAPALGPAVRALGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPPALPPKPPKAKPASTVLANGG... | null | null | B cell differentiation [GO:0030183]; cellular response to insulin stimulus [GO:0032869]; immune response [GO:0006955]; insulin receptor signaling pathway [GO:0008286]; intracellular glucose homeostasis [GO:0001678]; negative regulation of MAPK cascade [GO:0043409]; phosphatidylinositol 3-kinase/protein kinase B signal ... | cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; phosphatidylinositol 3-kinase complex [GO:0005942]; phosphatidylinositol 3-kinase complex, class IA [GO:0005943] | 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; phosphatidylinositol 3-kinase regulatory subunit binding [GO:0036312]; phosphotyrosine residue binding [GO:0001784]; protein heterodimerization activity [GO:0046982]; protein phosphatase binding [GO:0019903]; receptor tyrosine kinase binding [GO:0030971] | PF16454;PF00620;PF00017; | 1.10.287.1490;1.10.555.10;3.30.505.10;2.30.30.40; | PI3K p85 subunit family | PTM: Phosphorylated in response to signaling from activated receptor-type protein kinases (PubMed:19690332, PubMed:20068231). Dephosphorylated by PTPRJ (PubMed:18348712). Dephosphorylated at Tyr-655 by PTPN13. Phosphorylation of Tyr-655 impairs while its dephosphorylation promotes interaction with FBXL2 and SCF(FBXL2)-... | null | null | null | null | null | null | FUNCTION: Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, a... | Homo sapiens (Human) |
O00461 | GOLI4_HUMAN | MGNGMCSRKQKRIFQTLLLLTVVFGFLYGAMLYYELQTQLRKAEAVALKYQQHQESLSAQLQVVYEHRSRLEKSLQKERLEHKKAKEDFLVYKLEAQETLNKGRQDSNSRYSALNVQHQMLKSQHEELKKQHSDLEEEHRKQGEDFSRTFNDHKQKYLQLQQEKEQELSKLKETVYNLREENRQLRKAHQDIHTQLQDVKQQHKNLLSEHEQLVVTLEDHKSALAAAQTQVAEYKQLKDTLNRIPSLRKPDPAEQQNVTQVAHSPQGYNTAREKPTREVQEVSRNNDVWQNHEAVPGRAEDTKLYAPTHKEAEFQAPPEP... | null | null | null | cis-Golgi network [GO:0005801]; endocytic vesicle [GO:0030139]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi lumen [GO:0005796]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; transport vesicle [GO:0030133] | null | null | null | GOLIM4 family | PTM: Phosphorylated probably by c-AMP-dependent kinases in its lumenal part. {ECO:0000269|PubMed:9201717}.; PTM: O-glycosylated; modified by sialic acid residues. {ECO:0000250}.; PTM: N-glycosylated; N-glycans are probably of the complex type and modified by sialic acid residues. {ECO:0000269|PubMed:9201717}. | SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Endosome membrane; Single-pass type II membrane protein. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Localizes to cis and medial Golgi cisternae. Probably cycles between early Golgi and distal compartments li... | null | null | null | null | null | FUNCTION: Plays a role in endosome to Golgi protein trafficking; mediates protein transport along the late endosome-bypass pathway from the early endosome to the Golgi. {ECO:0000269|PubMed:15331763}. | Homo sapiens (Human) |
O00462 | MANBA_HUMAN | MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAK... | 3.2.1.25 | null | glycoprotein catabolic process [GO:0006516]; oligosaccharide catabolic process [GO:0009313]; protein modification process [GO:0036211] | azurophil granule membrane [GO:0035577]; lysosomal lumen [GO:0043202]; plasma membrane [GO:0005886] | beta-mannosidase activity [GO:0004567]; mannose binding [GO:0005537] | PF02836;PF17753;PF17786; | 2.60.120.260;3.20.20.80;2.60.40.10; | Glycosyl hydrolase 2 family | null | SUBCELLULAR LOCATION: Lysosome {ECO:0000305}. | CATALYTIC ACTIVITY: Reaction=Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.; EC=3.2.1.25; Evidence={ECO:0000305|PubMed:12890191, ECO:0000305|PubMed:16904924, ECO:0000305|PubMed:18565776, ECO:0000305|PubMed:30552791}; | null | PATHWAY: Glycan metabolism; N-glycan degradation. {ECO:0000269|PubMed:12890191, ECO:0000269|PubMed:30552791}. | BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 4.5-5. {ECO:0000269|PubMed:30552791}; | null | FUNCTION: Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides. {ECO:0000305|PubMed:12890191, ECO:0000305|PubMed:30552791}. | Homo sapiens (Human) |
O00463 | TRAF5_HUMAN | MAYSEEHKGMPCGFIRQNSGNSISLDFEPSIEYQFVERLEERYKCAFCHSVLHNPHQTGCGHRFCQHCILSLRELNTVPICPVDKEVIKSQEVFKDNCCKREVLNLYVYCSNAPGCNAKVILGRYQDHLQQCLFQPVQCSNEKCREPVLRKDLKEHLSASCQFRKEKCLYCKKDVVVINLQNHEENLCPEYPVFCPNNCAKIILKTEVDEHLAVCPEAEQDCPFKHYGCAVTDKRRNLQQHEHSALREHMRLVLEKNVQLEEQISDLHKSLEQKESKIQQLAETIKKLEKEFKQFAQLFGKNGSFLPNIQVFASHIDKSA... | null | null | apoptotic process [GO:0006915]; interleukin-17-mediated signaling pathway [GO:0097400]; mRNA stabilization [GO:0048255]; positive regulation of canonical NF-kappaB signal transduction [GO:0043123]; positive regulation of cell population proliferation [GO:0008284]; positive regulation of DNA-binding transcription factor... | CD40 receptor complex [GO:0035631]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829] | identical protein binding [GO:0042802]; thioesterase binding [GO:0031996]; tumor necrosis factor receptor binding [GO:0005164]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270] | PF21355;PF21363;PF02176; | 3.30.40.10; | TNF receptor-associated factor family, A subfamily | PTM: Ubiquitinated at Lys-318 by the SCF(FBXL2) complex, leading to its degradation by the proteasome. {ECO:0000250|UniProtKB:P70191}. | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:15121867}. Cytoplasm, cytosol {ECO:0000269|PubMed:15121867}. | null | null | null | null | null | FUNCTION: Adapter protein and signal transducer that links members of the tumor necrosis factor receptor family to different signaling pathways by association with the receptor cytoplasmic domain and kinases. Mediates activation of NF-kappa-B and probably JNK. Seems to be involved in apoptosis. Plays a role in mediatin... | Homo sapiens (Human) |
O00468 | AGRIN_HUMAN | MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPC... | null | null | clustering of voltage-gated sodium channels [GO:0045162]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; neuromuscular junction development [GO:0007528]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of GTPase activity [GO:0043547]; positive regulation of synapti... | basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; plasma membrane [GO:0005886]; synapse [GO:0045202] | calcium ion binding [GO:0005509]; chondroitin sulfate binding [GO:0035374]; dystroglycan binding [GO:0002162]; heparan sulfate proteoglycan binding [GO:0043395]; laminin binding [GO:0043236]; sialic acid binding [GO:0033691]; structural constituent of cytoskeleton [GO:0005200] | PF00008;PF00050;PF07648;PF00053;PF00054;PF03146;PF01390; | 2.40.50.120;2.60.120.200;3.30.60.30;2.10.25.10;3.30.70.960; | null | PTM: Contains heparan and chondroitin sulfate chains and alpha-dystroglycan as well as N-linked and O-linked oligosaccharides. Glycosaminoglycans (GAGs), present in the N-terminal 110 kDa fragment, are required for induction of filopodia in hippocampal neurons. The first cluster (Gly/Ser-rich) for GAG attachment contai... | SUBCELLULAR LOCATION: [Isoform 1]: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:20551380}. Note=Synaptic basal lamina at the neuromuscular junction. {ECO:0000250|UniProtKB:P31696}.; SUBCELLULAR LOCATION: [Isoform 2]: Synapse {ECO:0000250|UniProtKB:A2ASQ1}. Cell membrane {ECO:0000250|UniProtKB... | null | null | null | null | null | FUNCTION: [Isoform 1]: Heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component of the AGRN-LRP4 receptor complex that induces the phosphorylation and activation of MUSK.... | Homo sapiens (Human) |
O00469 | PLOD2_HUMAN | MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLVITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARAKNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLT... | 1.14.11.4 | COFACTOR: Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence={ECO:0000250|UniProtKB:P24802}; COFACTOR: Name=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence={ECO:0000250|UniProtKB:P24802}; | hydroxylysine biosynthetic process [GO:0046947]; peptidyl-lysine hydroxylation [GO:0017185]; protein modification process [GO:0036211]; response to hypoxia [GO:0001666] | endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; rough endoplasmic reticulum membrane [GO:0030867] | iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; procollagen-lysine 5-dioxygenase activity [GO:0008475] | PF03171; | 2.60.120.620; | null | null | SUBCELLULAR LOCATION: Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. | CATALYTIC ACTIVITY: Reaction=2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate; Xref=Rhea:RHEA:16569, Rhea:RHEA-COMP:12751, Rhea:RHEA-COMP:12752, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:133442; EC=1.14.11.4; ... | null | null | null | null | FUNCTION: Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. {ECO:0000250|UniProtKB:P24802}. | Homo sapiens (Human) |
O00470 | MEIS1_HUMAN | MAQRYDDLPHYGGMDGVGIPSTMYGDPHAARSMQPVHHLNHGPPLHSHQYPHTAHTNAMAPSMGSSVNDALKRDKDAIYGHPLFPLLALIFEKCELATCTPREPGVAGGDVCSSESFNEDIAVFAKQIRAEKPLFSSNPELDNLMIQAIQVLRFHLLELEKVHELCDNFCHRYISCLKGKMPIDLVIDDREGGSKSDSEDITRSANLTDQPSWNRDHDDTASTRSGGTPGPSSGGHTSHSGDNSSEQGDGLDNSVASPSTGDDDDPDKDKKRHKKRGIFPKVATNIMRAWLFQHLTHPYPSEEQKKQLAQDTGLTILQVN... | null | null | angiogenesis [GO:0001525]; animal organ morphogenesis [GO:0009887]; brain development [GO:0007420]; cell growth involved in cardiac muscle cell development [GO:0061049]; definitive hemopoiesis [GO:0060216]; embryonic pattern specification [GO:0009880]; eye development [GO:0001654]; hemopoiesis [GO:0030097]; lens morpho... | chromatin [GO:0000785]; nucleus [GO:0005634]; transcription regulator complex [GO:0005667] | chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II cis-regulatory region sequence-specific DNA binding [GO:0000978] | PF05920;PF16493; | 1.10.10.60; | TALE/MEIS homeobox family | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}. | null | null | null | null | null | FUNCTION: Acts as a transcriptional regulator of PAX6. Acts as a transcriptional activator of PF4 in complex with PBX1 or PBX2. Required for hematopoiesis, megakaryocyte lineage development and vascular patterning. May function as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukemias. {ECO:0000269|PubMed... | Homo sapiens (Human) |
O00471 | EXOC5_HUMAN | MATTAELFEEPFVADEYIERLVWRTPGGGSRGGPEAFDPKRLLEEFVNHIQELQIMDERIQRKVEKLEQQCQKEAKEFAKKVQELQKSNQVAFQHFQELDEHISYVATKVCHLGDQLEGVNTPRQRAVEAQKLMKYFNEFLDGELKSDVFTNSEKIKEAADIIQKLHLIAQELPFDRFSEVKSKIASKYHDLECQLIQEFTSAQRRGEISRMREVAAVLLHFKGYSHCVDVYIKQCQEGAYLRNDIFEDAGILCQRVNKQVGDIFSNPETVLAKLIQNVFEIKLQSFVKEQLEECRKSDAEQYLKNLYDLYTRTTNLSSK... | null | null | epithelial cell apoptotic process [GO:1904019]; establishment of planar polarity [GO:0001736]; exocytosis [GO:0006887]; Golgi to plasma membrane transport [GO:0006893]; membrane fission [GO:0090148]; mitotic cytokinesis [GO:0000281]; non-motile cilium assembly [GO:1905515]; post-Golgi vesicle-mediated transport [GO:000... | cytoplasm [GO:0005737]; cytosol [GO:0005829]; exocyst [GO:0000145]; midbody [GO:0030496] | small GTPase binding [GO:0031267] | PF07393;PF20667; | null | SEC10 family | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9119050}. Midbody {ECO:0000269|PubMed:18756269}. Note=Localization at the midbody requires the presence of RALA, EXOC2 and EXOC3. {ECO:0000269|PubMed:18756269}. | null | null | null | null | null | FUNCTION: Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. | Homo sapiens (Human) |
O00472 | ELL2_HUMAN | MAAGGTGGLREEQRYGLSCGRLGQDNITVLHVKLTETAIRALETYQSHKNLIPFRPSIQFQGLHGLVKIPKNDPLNEVHNFNFYLSNVGKDNPQGSFDCIQQTFSSSGASQLNCLGFIQDKITVCATNDSYQMTRERMTQAEEESRNRSTKVIKPGGPYVGKRVQIRKAPQAVSDTVPERKRSTPMNPANTIRKTHSSSTISQRPYRDRVIHLLALKAYKKPELLARLQKDGVNQKDKNSLGAILQQVANLNSKDLSYTLKDYVFKELQRDWPGYSEIDRRSLESVLSRKLNPSQNAAGTSRSESPVCSSRDAVSSPQKR... | null | null | positive regulation of transcription elongation by RNA polymerase II [GO:0032968]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription elongation by RNA polymerase II [GO:0006368] | nucleoplasm [GO:0005654]; transcription elongation factor complex [GO:0008023] | cis-regulatory region sequence-specific DNA binding [GO:0000987] | PF10390;PF07303; | 6.10.140.340;1.10.10.2670; | ELL/occludin family | PTM: Ubiquitinated by SIAH1, leading to its degradation by the proteasome. Interaction with AFF4 stabilizes ELL2 and prevents ELL2 ubiquitination. {ECO:0000269|PubMed:22483617}. | SUBCELLULAR LOCATION: Nucleus. | null | null | null | null | null | FUNCTION: Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to re... | Homo sapiens (Human) |
O00476 | NPT4_HUMAN | MATKTELSPTARESKNAQDMQVDETLIPRKVPSLCSARYGIALVLHFCNFTTIAQNVIMNITMVAMVNSTSPQSQLNDSSEVLPVDSFGGLSKAPKSLPAKSSILGGQFAIWEKWGPPQERSRLCSIALSGMLLGCFTAILIGGFISETLGWPFVFYIFGGVGCVCCLLWFVVIYDDPVSYPWISTSEKEYIISSLKQQVGSSKQPLPIKAMLRSLPIWSICLGCFSHQWLVSTMVVYIPTYISSVYHVNIRDNGLLSALPFIVAWVIGMVGGYLADFLLTKKFRLITVRKIATILGSLPSSALIVSLPYLNSGYITATA... | null | null | glucose-6-phosphate transport [GO:0015760]; monoatomic anion transport [GO:0006820]; monoatomic ion transmembrane transport [GO:0034220]; organic anion transport [GO:0015711]; phosphate ion transport [GO:0006817]; sodium ion transport [GO:0006814]; urate metabolic process [GO:0046415]; urate transport [GO:0015747]; xen... | apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886] | efflux transmembrane transporter activity [GO:0015562]; organic anion transmembrane transporter activity [GO:0008514]; sodium:phosphate symporter activity [GO:0005436]; toxin transmembrane transporter activity [GO:0019534]; urate transmembrane transporter activity [GO:0015143]; voltage-gated monoatomic anion channel ac... | PF07690; | 1.20.1250.20; | Major facilitator superfamily, Sodium/anion cotransporter family | null | SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15505377}; Multi-pass membrane protein {ECO:0000269|PubMed:15505377}.; SUBCELLULAR LOCATION: [Isoform 2]: Cell membrane {ECO:0000269|PubMed:20810651}; Multi-pass membrane protein {ECO:0000269|PubMed:20810651}. | CATALYTIC ACTIVITY: [Isoform 2]: Reaction=Na(+)(out) + urate(in) = Na(+)(in) + urate(out); Xref=Rhea:RHEA:72383, ChEBI:CHEBI:17775, ChEBI:CHEBI:29101; Evidence={ECO:0000305|PubMed:20810651}; | null | null | null | null | FUNCTION: [Isoform 2]: Transports organic anions in a voltage-driven, multispecific, manner, on the apical side of renal proximal tubule (PubMed:20810651). In particular, participates in the secretion of urate from the cell into the lumen (PubMed:20810651). Urate is the end product of purine metabolism (PubMed:20810651... | Homo sapiens (Human) |
O00478 | BT3A3_HUMAN | MKMASSLAFLLLNFHVSLFLVQLLTPCSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDLHIEVKGYEDGGIHLECRSTGWYPQPQIKWSDTKGENIPAVEAPVVADGVGLYAVAASVIMRGSSGGGVSCIIRNSLLGLEKTASISIADPFFRSAQPWIAALAGTLPISLLLLAGASYFLWRQQKEKIALSRETEREREMKEMGYAATEQEISLREKLQEELKWRKIQYM... | null | null | regulation of cytokine production [GO:0001817]; T cell mediated immunity [GO:0002456]; T cell receptor signaling pathway [GO:0050852] | external side of plasma membrane [GO:0009897]; membrane [GO:0016020]; plasma membrane [GO:0005886] | signaling receptor binding [GO:0005102] | PF13765;PF00622;PF07686; | 2.60.120.920;2.60.40.10; | Immunoglobulin superfamily, BTN/MOG family | PTM: N-glycosylated. {ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:20610803}. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21918970, ECO:0000269|PubMed:22767497}; Single-pass type I membrane protein {ECO:0000269|PubMed:21918970, ECO:0000269|PubMed:22767497}. | null | null | null | null | null | FUNCTION: Plays a role in T-cell responses in the adaptive immune response. {ECO:0000269|PubMed:22767497}. | Homo sapiens (Human) |
O00481 | BT3A1_HUMAN | MKMASFLAFLLLNFRVCLLLLQLLMPHSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSAETMELKWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDLHVDVKGYKDGGIHLECRSTGWYPQPQIQWSNNKGENIPTVEAPVVADGVGLYAVAASVIMRGSSGEGVSCTIRSSLLGLEKTASISIADPFFRSAQRWIAALAGTLPVLLLLLGGAGYFLWQQQEEKKTQFRKKKREQELREMAWSTMKQEQSTRVKLLEELRWRSIQYA... | null | null | activated T cell proliferation [GO:0050798]; adaptive immune response [GO:0002250]; positive regulation of cytokine production [GO:0001819]; positive regulation of type II interferon production [GO:0032729]; regulation of cytokine production [GO:0001817]; T cell receptor signaling pathway [GO:0050852] | external side of plasma membrane [GO:0009897]; plasma membrane [GO:0005886] | signaling receptor binding [GO:0005102] | PF13765;PF00622;PF07686; | 2.60.120.920;2.60.40.10; | Immunoglobulin superfamily, BTN/MOG family | PTM: N-glycosylated. {ECO:0000269|PubMed:20610803, ECO:0000269|PubMed:22846996}. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21113407, ECO:0000269|PubMed:21918970, ECO:0000269|PubMed:22767497}; Single-pass type I membrane protein {ECO:0000269|PubMed:21113407, ECO:0000269|PubMed:21918970, ECO:0000269|PubMed:22767497}. | null | null | null | null | null | FUNCTION: Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and transformed cells that are characterized by high levels of phosphoryla... | Homo sapiens (Human) |
O00482 | NR5A2_HUMAN | MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQA... | null | null | acinar cell differentiation [GO:0090425]; bile acid metabolic process [GO:0008206]; calcineurin-mediated signaling [GO:0097720]; cellular response to leukemia inhibitory factor [GO:1990830]; cholesterol homeostasis [GO:0042632]; embryo development ending in birth or egg hatching [GO:0009792]; homeostatic process [GO:00... | chromatin [GO:0000785]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription regulator complex [GO:0090575] | chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:00048... | PF00104;PF00105; | 3.30.50.10;1.10.565.10; | Nuclear hormone receptor family, NR5 subfamily | PTM: Sumoylated by SUMO1 at Lys-270 during the hepatic acute phase response, leading to promote interaction with GPS2 and prevent N-Cor corepressor complex dissociation. {ECO:0000269|PubMed:20159957}. | SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. | null | null | null | null | null | FUNCTION: Nuclear receptor that acts as a key metabolic sensor by regulating the expression of genes involved in bile acid synthesis, cholesterol homeostasis and triglyceride synthesis. Together with the oxysterol receptors NR1H3/LXR-alpha and NR1H2/LXR-beta, acts as an essential transcriptional regulator of lipid meta... | Homo sapiens (Human) |
O00483 | NDUA4_HUMAN | MLRQIIGQAKKHPSLIPLFVFIGTGATGATLYLLRLALFNPDVCWDRNNPEPWNKLGPNDQYKFYSVNVDYSKLKKERPDF | null | null | cellular respiration [GO:0045333]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; positive regulation of cytochrome-c oxidase activity [GO:1904960] | mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrial respiratory chain complex IV [GO:0005751]; mitochondrion [GO:0005739] | NADH dehydrogenase (ubiquinone) activity [GO:0008137]; protein-containing complex binding [GO:0044877] | PF06522; | null | Complex IV NDUFA4 subunit family | null | SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:23746447, ECO:0000269|PubMed:30030519}; Single-pass membrane protein {ECO:0000269|PubMed:30030519}. | null | null | null | null | null | FUNCTION: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, comple... | Homo sapiens (Human) |
O00487 | PSDE_HUMAN | MDRLLRLGGGMPGLGQGPPTDAPAVDTAEQVYISSLALLKMLKHGRAGVPMEVMGLMLGEFVDDYTVRVIDVFAMPQSGTGVSVEAVDPVFQAKMLDMLKQTGRPEMVVGWYHSHPGFGCWLSGVDINTQQSFEALSERAVAVVVDPIQSVKGKVVIDAFRLINANMMVLGHEPRQTTSNLGHLNKPSIQALIHGLNRHYYSITINYRKNELEQKMLLNLHKKSWMEGLTLQDYSEHCKHNESVVKEMLELAKNYNKAVEEEDKMTPEQLAIKNVGKQDPKRHLEEHVDVLMTSNIVQCLAAMLDTVVFK | 3.4.19.- | null | double-strand break repair via homologous recombination [GO:0000724]; double-strand break repair via nonhomologous end joining [GO:0006303]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein K63-linked deubiquitination [GO:0070536]; regulation of proteasomal protein catabolic proce... | cytosol [GO:0005829]; cytosolic proteasome complex [GO:0031597]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome accessory complex [GO:0022624]; proteasome complex [GO:0000502]; proteasome regulatory particle, lid subcomplex [GO:00... | endopeptidase activator activity [GO:0061133]; K63-linked deubiquitinase activity [GO:0061578]; metal ion binding [GO:0046872]; metal-dependent deubiquitinase activity [GO:0140492]; metallopeptidase activity [GO:0008237]; proteasome binding [GO:0070628] | PF01398; | 3.40.140.10; | Peptidase M67A family, PSMD14 subfamily | null | null | null | null | null | null | null | FUNCTION: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose ... | Homo sapiens (Human) |
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