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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
O43169 | CYB5B_HUMAN | MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPSDLKPESGSKDPSKNDTCKSCWAYWILPIIGAVLLGFLYRYYTSESKSS | null | null | nitric oxide biosynthetic process [GO:0006809]; response to oxidative stress [GO:0006979]; xenobiotic metabolic process [GO:0006805] | endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; nitric-oxide synthase complex [GO:1903958] | enzyme activator activity [GO:0008047]; heme binding [GO:0020037]; metal ion binding [GO:0046872] | PF00173; | 3.10.120.10; | Cytochrome b5 family | null | SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250|UniProtKB:P04166}. | null | null | null | null | null | FUNCTION: Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases. {ECO:0000250}. | Homo sapiens (Human) |
O43172 | PRP4_HUMAN | MASSRASSTQATKTKAPDDLVAPVVKKPHIYYGSLEEKERERLAKGESGILGKDGLKAGIEAGNINITSGEVFEIEEHISERQAEVLAEFERRKRARQINVSTDDSEVKACLRALGEPITLFGEGPAERRERLRNILSVVGTDALKKTKKDDEKSKKSKEEYQQTWYHEGPNSLKVARLWIANYSLPRAMKRLEEARLHKEIPETTRTSQMQELHKSLRSLNNFCSQIGDDRPISYCHFSPNSKMLATACWSGLCKLWSVPDCNLLHTLRGHNTNVGAIVFHPKSTVSLDPKDVNLASCAADGSVKLWSLDSDEPVADIE... | null | null | mRNA splicing, via spliceosome [GO:0000398]; RNA processing [GO:0006396]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375] | Cajal body [GO:0015030]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; spliceosomal snRNP complex [GO:0097525]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 snRNP [GO:0071001]; U4/U6 x U5 tri-snRNP complex [GO:0046540] | U4 snRNA binding [GO:0030621]; U6 snRNA binding [GO:0017070] | PF08799;PF00400; | 4.10.280.110;2.130.10.10; | null | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25383878, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:9257651, ECO:0000269|PubMed:9328476, ECO:0000269|PubMed:9404889}. Nucleus speckle {ECO:0000305}. | null | null | null | null | null | FUNCTION: Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). {ECO:0000269|PubMed:25383878, ECO:0000269|PubMed:28781166}. | Homo sapiens (Human) |
O43173 | SIA8C_HUMAN | MRNCKMARVASVLGLVMLSVALLILSLISYVSLKKENIFTTPKYASPGAPRMYMFHAGFRSQFALKFLDPSFVPITNSLTQELQEKPSKWKFNRTAFLHQRQEILQHVDVIKNFSLTKNSVRIGQLMHYDYSSHKYVFSISNNFRSLLPDVSPIMNKHYNICAVVGNSGILTGSQCGQEIDKSDFVFRCNFAPTEAFQRDVGRKTNLTTFNPSILEKYYNNLLTIQDRNNFFLSLKKLDGAILWIPAFFFHTSATVTRTLVDFFVEHRGQLKVQLAWPGNIMQHVNRYWKNKHLSPKRLSTGILMYTLASAICEEIHLYG... | 2.4.3.-; 2.4.3.8 | null | ganglioside biosynthetic process [GO:0001574]; glycoprotein metabolic process [GO:0009100]; glycosphingolipid biosynthetic process [GO:0006688]; N-glycan processing [GO:0006491]; oligosaccharide metabolic process [GO:0009311]; protein glycosylation [GO:0006486]; sialylation [GO:0097503] | Golgi membrane [GO:0000139] | alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity [GO:0003828]; identical protein binding [GO:0042802]; sialic acid binding [GO:0033691] | PF00777; | 3.90.1480.20; | Glycosyltransferase 29 family | PTM: Autopolysialylated. {ECO:0000269|PubMed:10766765}. | SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305|PubMed:10766765}; Single-pass type II membrane protein {ECO:0000305}. | CATALYTIC ACTIVITY: Reaction=[N-acetyl-alpha-D-neuraminosyl-(2->8)](n) + CMP-N-acetyl-beta-neuraminate = [N-acetyl-alpha-D-neuraminosyl-(2->8)](n+1) + CMP + H(+); Xref=Rhea:RHEA:77367, Rhea:RHEA-COMP:14315, Rhea:RHEA-COMP:18878, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:139252; Evidence={ECO:... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=30 mM for N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose (with a constant CMP-Neu5Ac concentration of 1 mM) {ECO:0000269|PubMed:26192331}; KM=2.6 mM for 3'-sialyl-N-acetyllactosamine-6-sulfate (with a constant CMP-Neu5Ac concentration of 1... | PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:9826427, ECO:0000305|PubMed:10766765, ECO:0000305|PubMed:26192331}. | null | null | FUNCTION: Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto a terminal alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid of an acceptor, such as N-linked oligosaccharides of glycoproteins and glycolipids through alpha-2,8-linkages (PubMed:10766765, PubMed:26192331, PubMed:9826427). Fo... | Homo sapiens (Human) |
O43174 | CP26A_HUMAN | MGLPALLASALCTFVLPLLLFLAAIKLWDLYCVSGRDRSCALPLPPGTMGFPFFGETLQMVLQRRKFLQMKRRKYGFIYKTHLFGRPTVRVMGADNVRRILLGEHRLVSVHWPASVRTILGSGCLSNLHDSSHKQRKKVIMRAFSREALECYVPVITEEVGSSLEQWLSCGERGLLVYPEVKRLMFRIAMRILLGCEPQLAGDGDSEQQLVEAFEEMTRNLFSLPIDVPFSGLYRGMKARNLIHARIEQNIRAKICGLRASEAGQGCKDALQLLIEHSWERGERLDMQALKQSSTELLFGGHETTASAATSLITYLGLYP... | 1.14.13.- | COFACTOR: Name=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250}; | kidney development [GO:0001822]; negative regulation of retinoic acid receptor signaling pathway [GO:0048387]; response to retinoic acid [GO:0032526]; response to vitamin A [GO:0033189]; retinoic acid catabolic process [GO:0034653]; retinoic acid metabolic process [GO:0042573]; sterol metabolic process [GO:0016125]; vi... | endoplasmic reticulum membrane [GO:0005789] | all-trans retinoic acid 18-hydroxylase activity [GO:0062183]; all-trans retinoic acid 4-hydrolase activity [GO:0062182]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, N... | PF00067; | 1.10.630.10; | Cytochrome P450 family | null | SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:9716180}; Peripheral membrane protein. Microsome membrane {ECO:0000269|PubMed:9716180}; Peripheral membrane protein. | CATALYTIC ACTIVITY: Reaction=all-trans-retinoate + O2 + reduced [NADPH--hemoprotein reductase] = all-trans-(4S)-hydroxyretinoate + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:51492, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=50.1 nM for all-trans-retinoate (4-hydroxylation) {ECO:0000269|PubMed:22020119}; KM=48.9 nM for all-trans-retinoate (18-hydroxylation) {ECO:0000269|PubMed:22020119}; KM=0.24 uM for tazarotenic acid (tazarotenic acid sulfoxide formation) {ECO:0000269|PubMed:26937021... | null | null | null | FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:22020119, PubMed:9228017, PubMed:9716180). RAs exist as at least four different isomers: all-trans-RA (atRA), 9-cis-RA, 13-cis-RA, and 9,13-d... | Homo sapiens (Human) |
O43175 | SERA_HUMAN | MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQA... | 1.1.1.37; 1.1.1.399; 1.1.1.95 | null | brain development [GO:0007420]; G1 to G0 transition [GO:0070314]; gamma-aminobutyric acid metabolic process [GO:0009448]; glial cell development [GO:0021782]; glutamine metabolic process [GO:0006541]; glycine metabolic process [GO:0006544]; L-serine biosynthetic process [GO:0006564]; neural tube development [GO:0021915... | cytosol [GO:0005829]; extracellular exosome [GO:0070062] | electron transfer activity [GO:0009055]; L-malate dehydrogenase activity [GO:0030060]; NAD binding [GO:0051287]; phosphoglycerate dehydrogenase activity [GO:0004617] | PF00389;PF02826;PF19304; | 3.40.50.720; | D-isomer specific 2-hydroxyacid dehydrogenase family | null | null | CATALYTIC ACTIVITY: Reaction=(2R)-3-phosphoglycerate + NAD(+) = 3-phosphooxypyruvate + H(+) + NADH; Xref=Rhea:RHEA:12641, ChEBI:CHEBI:15378, ChEBI:CHEBI:18110, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:58272; EC=1.1.1.95; Evidence={ECO:0000269|PubMed:11751922}; CATALYTIC ACTIVITY: Reaction=(R)-2-hydroxyglutarat... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=21.6 uM for 3-phosphonooxypyruvate {ECO:0000269|PubMed:19235232}; KM=0.26 mM for 3-phosphoglycerate {ECO:0000269|PubMed:25406093}; KM=6.5 mM for oxaloacetate {ECO:0000269|PubMed:25406093}; KM=10.1 mM for 2-oxoglutarate {ECO:0000269|PubMed:25406093}; KM=22 uM for NA... | PATHWAY: Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 1/3. | null | null | FUNCTION: Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate. {ECO:0000269|Pu... | Homo sapiens (Human) |
O43181 | NDUS4_HUMAN | MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLDITTLTGVPEEHIKTRKVRIFVPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTADPLSNMVLTFSTKEDAVSFAEKNGWSYDIEERKVPKPKSKSYGANFSWNKRTRVSTK | null | null | aerobic respiration [GO:0009060]; brain development [GO:0007420]; cellular respiration [GO:0045333]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; positive regulation of fibroblast proliferation [GO:0048146]; proton motive force-drive... | mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739] | NADH dehydrogenase (ubiquinone) activity [GO:0008137] | PF04800; | 3.30.160.190; | Complex I NDUFS4 subunit family | null | SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11181577, ECO:0000269|PubMed:12611891, ECO:0000269|PubMed:31206022}; Peripheral membrane protein {ECO:0000269|PubMed:12611891}; Matrix side {ECO:0000269|PubMed:12611891}. Note=The interaction with BCAP31 mediates mitochondria localization. {ECO:0000... | null | null | null | null | null | FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. ... | Homo sapiens (Human) |
O43182 | RHG06_HUMAN | MSAQSLLHSVFSCSSPASSSAASAKGFSKRKLRQTRSLDPALIGGCGSDEAGAEGSARGATAGRLYSPSLPAESLGPRLASSSRGPPPRATRLPPPGPLCSSFSTPSTPQEKSPSGSFHFDYEVPLGRGGLKKSMAWDLPSVLAGPASSRSASSILCSSGGGPNGIFASPRRWLQQRKFQSPPDSRGHPYVVWKSEGDFTWNSMSGRSVRLRSVPIQSLSELERARLQEVAFYQLQQDCDLSCQITIPKDGQKRKKSLRKKLDSLGKEKNKDKEFIPQAFGMPLSQVIANDRAYKLKQDLQRDEQKDASDFVASLLPFGN... | null | null | actin filament polymerization [GO:0030041]; activation of phospholipase C activity [GO:0007202]; focal adhesion assembly [GO:0048041]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of stress fiber assembly [GO:0051497]; positive regulation of phospholipase activity [GO:0010518]; regul... | actin cytoskeleton [GO:0015629]; actin filament [GO:0005884]; cytoplasm [GO:0005737]; cytosol [GO:0005829] | GTPase activator activity [GO:0005096]; phospholipase activator activity [GO:0016004]; phospholipase binding [GO:0043274]; SH3 domain binding [GO:0017124] | PF00620; | 1.10.555.10; | null | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10699171}. | null | null | null | null | null | FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing th... | Homo sapiens (Human) |
O43184 | ADA12_HUMAN | MAARPLPVSPARALLLALAGALLAPCEARGVSLWNQGRADEVVSASVGSGDLWIPVKSFDSKNHPEVLNIRLQRESKELIINLERNEGLIASSFTETHYLQDGTDVSLARNYTVILGHCYYHGHVRGYSDSAVSLSTCSGLRGLIVFENESYVLEPMKSATNRYKLFPAKKLKSVRGSCGSHHNTPNLAAKNVFPPPSQTWARRHKRETLKATKYVELVIVADNREFQRQGKDLEKVKQRLIEIANHVDKFYRPLNIRIVLVGVEVWNDMDKCSVSQDPFTSLHEFLDWRKMKLLPRKSHDNAQLVSGVYFQGTTIGMAP... | 3.4.24.- | COFACTOR: Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.; | cell adhesion [GO:0007155]; myoblast fusion [GO:0007520]; positive regulation of angiogenesis [GO:0045766]; proteolysis [GO:0006508] | extracellular region [GO:0005576]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886] | metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; SH3 domain binding [GO:0017124] | PF08516;PF00200;PF01562;PF01421; | 3.40.390.10;4.10.70.10; | null | PTM: The precursor is cleaved by a furin endopeptidase. {ECO:0000250}. | SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: [Isoform 2]: Secreted.; SUBCELLULAR LOCATION: [Isoform 3]: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 4]: Secreted {ECO:0000305}. | null | null | null | null | null | FUNCTION: Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity). {ECO:0000250}. | Homo sapiens (Human) |
O43186 | CRX_HUMAN | MMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERTTFTRSQLEELEALFAKTQYPDVYAREEVALKINLPESRVQVWFKNRRAKCRQQRQQQKQQQQPPGGQAKARPAKRKAGTSPRPSTDVCPDPLGISDSYSPPLPGPSGSPTTAVATVSIWSPASESPLPEAQRAGLVASGPSLTSAPYAMTYAPASAFCSSPSAYGSPSSYFSGLDPYLSPMVPQLGGPALSPLSGPSVGPSLAQSPTSLSGQSYGAYSPVDSLEFKDPTGTWKFTYNPMDPLDYKDQSAWKFQIL | null | null | animal organ morphogenesis [GO:0009887]; cell differentiation [GO:0030154]; nervous system development [GO:0007399]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of DNA-templated transcription [GO:0006355]; regulation of transcription by RNA polymerase II [GO:0006357]; response to ... | chromatin [GO:0000785]; nucleus [GO:0005634]; RNA polymerase II transcription regulator complex [GO:0090575] | DNA-binding transcription activator activity [GO:0001216]; 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]; leucine zipper domain binding [GO:... | PF00046;PF03529; | 1.10.10.60; | Paired homeobox family | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}. | null | null | null | null | null | FUNCTION: Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcripti... | Homo sapiens (Human) |
O43187 | IRAK2_HUMAN | MACYIYQLPSWVLDDLCRNMDALSEWDWMEFASYVITDLTQLRKIKSMERVQGVSITRELLWWWGMRQATVQQLVDLLCRLELYRAAQIILNWKPAPEIRCPIPAFPDSVKPEKPLAASVRKAEDEQEEGQPVRMATFPGPGSSPARAHQPAFLQPPEEDAPHSLRSDLPTSSDSKDFSTSIPKQEKLLSLAGDSLFWSEADVVQATDDFNQNRKISQGTFADVYRGHRHGKPFVFKKLRETACSSPGSIERFFQAELQICLRCCHPNVLPVLGFCAARQFHSFIYPYMANGSLQDRLQGQGGSDPLPWPQRVSICSGLL... | null | null | canonical NF-kappaB signal transduction [GO:0007249]; cellular response to lipopolysaccharide [GO:0071222]; inflammatory response [GO:0006954]; interleukin-1-mediated signaling pathway [GO:0070498]; intracellular signal transduction [GO:0035556]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; MyD88-depende... | cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; nucleus [GO:0005634]; plasma membrane [GO:0005886] | ATP binding [GO:0005524]; molecular adaptor activity [GO:0060090]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; signaling adaptor activity [GO:0035591] | PF00531;PF00069; | 1.10.533.10;1.10.510.10; | Protein kinase superfamily, TKL Ser/Thr protein kinase family, Pelle subfamily | null | null | null | null | null | null | null | FUNCTION: Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization. {ECO:0000269|PubMed:10383454, ECO:0000269|PubMed:9374458}. | Homo sapiens (Human) |
O43189 | PHF1_HUMAN | MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKYFDFDREILPFTSENWDSLLLGELSDTPKGERSSRLLSALNSHKDRFISGR... | null | null | chromatin organization [GO:0006325]; DNA repair-dependent chromatin remodeling [GO:0140861]; regulation of DNA-templated transcription [GO:0006355] | centrosome [GO:0005813]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of double-strand break [GO:0035861] | chromatin binding [GO:0003682]; DNA binding [GO:0003677]; histone methyltransferase binding [GO:1990226]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; transcription corepressor binding [GO:0001222] | PF14061;PF00628;PF18104; | 2.30.30.140;3.90.980.20;3.30.40.10; | Polycomblike family | null | SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes specifically to the promoters of numerous target genes. Localizes to double-strand breaks (DSBs) sites following DNA damage. Co-localizes with NEK6 in the centrosome. | null | null | null | null | null | FUNCTION: Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Involved in DNA damage response and is recruited at double-strand breaks (DSBs). Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex: it i... | Homo sapiens (Human) |
O43193 | MTLR_HUMAN | MGSPWNGSDGPEGAREPPWPALPPCDERRCSPFPLGALVPVTAVCLCLFVVGVSGNVVTVMLIGRYRDMRTTTNLYLGSMAVSDLLILLGLPFDLYRLWRSRPWVFGPLLCRLSLYVGEGCTYATLLHMTALSVERYLAICRPLRARVLVTRRRVRALIAVLWAVALLSAGPFLFLVGVEQDPGISVVPGLNGTARIASSPLASSPPLWLSRAPPPSPPSGPETAEAAALFSRECRPSPAQLGALRVMLWVTTAYFFLPFLCLSILYGLIGRELWSSRRPLRGPAASGRERGHRQTVRVLLVVVLAFIICWLPFHVGRII... | null | null | G protein-coupled receptor signaling pathway [GO:0007186] | cytosol [GO:0005829]; plasma membrane [GO:0005886] | G protein-coupled peptide receptor activity [GO:0008528]; hormone binding [GO:0042562] | PF00001; | 1.20.1070.10; | G-protein coupled receptor 1 family | null | SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. | null | null | null | null | null | FUNCTION: Receptor for motilin. {ECO:0000269|PubMed:11322507}. | Homo sapiens (Human) |
O43194 | GPR39_HUMAN | MASPSLPGSDCSQIIDHSHVPEFEVATWIKITLILVYLIIFVMGLLGNSATIRVTQVLQKKGYLQKEVTDHMVSLACSDILVFLIGMPMEFYSIIWNPLTTSSYTLSCKLHTFLFEACSYATLLHVLTLSFERYIAICHPFRYKAVSGPCQVKLLIGFVWVTSALVALPLLFAMGTEYPLVNVPSHRGLTCNRSSTRHHEQPETSNMSICTNLSSRWTVFQSSIFGAFVVYLVVLLSVAFMCWNMMQVLMKSQKGSLAGGTRPPQLRKSESEESRTARRQTIIFLRLIVVTLAVCWMPNQIRRIMAAAKPKHDWTRSYFR... | null | null | G protein-coupled receptor signaling pathway [GO:0007186] | plasma membrane [GO:0005886] | G protein-coupled receptor activity [GO:0004930]; metal ion binding [GO:0046872] | PF00001; | 1.20.1070.10; | G-protein coupled receptor 1 family | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26365466}; Multi-pass membrane protein. | null | null | null | null | null | FUNCTION: Zinc-sensing receptor that can sense changes in extracellular Zn(2+), mediate Zn(2+) signal transmission, and participates in the regulation of numerous physiological processes including glucose homeostasis regulation, gastrointestinal mobility, hormone secretion and cell death (PubMed:18180304). Activation b... | Homo sapiens (Human) |
O43196 | MSH5_HUMAN | MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLIL... | null | null | chiasma assembly [GO:0051026]; mismatch repair [GO:0006298] | nucleus [GO:0005634] | ATP binding [GO:0005524]; ATP-dependent DNA damage sensor activity [GO:0140664]; double-stranded DNA binding [GO:0003690]; mismatched DNA binding [GO:0030983] | PF05192;PF05190;PF00488; | 1.10.1420.10;3.40.50.300; | DNA mismatch repair MutS family | null | null | null | null | null | null | null | FUNCTION: Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity). {ECO:0000250}. | Homo sapiens (Human) |
O43236 | SEPT4_HUMAN | MDRSLGWQGNSVPEDRTEAGIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQF... | null | null | apoptotic process [GO:0006915]; cytoskeleton-dependent cytokinesis [GO:0061640]; flagellated sperm motility [GO:0030317]; hematopoietic stem cell homeostasis [GO:0061484]; neuron migration [GO:0001764]; positive regulation of apoptotic process [GO:0043065]; positive regulation of intrinsic apoptotic signaling pathway [... | axon [GO:0030424]; cell division site [GO:0032153]; cytosol [GO:0005829]; dendrite [GO:0030425]; microtubule cytoskeleton [GO:0015630]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; septin complex [GO:0031105]; septin ring... | GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; molecular adaptor activity [GO:0060090]; structural molecule activity [GO:0005198] | PF00735; | 3.40.50.300; | TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily, Septin GTPase family | PTM: Phosphorylated by DYRK1A. {ECO:0000250|UniProtKB:P28661}.; PTM: Ubiquitinated by AREL1. {ECO:0000269|PubMed:23479728}. | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P28661}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:25588830}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:15116257}. Cell projection, axon {ECO:0000250|UniProtKB:P28661}. Cell projection, dendrite {ECO:0000250|UniProtKB:P28661}. Perikary... | null | null | null | null | null | FUNCTION: Filament-forming cytoskeletal GTPase (Probable). Pro-apoptotic protein involved in LGR5-positive intestinal stem cell and Paneth cell expansion in the intestines, via its interaction with XIAP (By similarity). May also play a role in the regulation of cell fate in the intestine (By similarity). Positive regul... | Homo sapiens (Human) |
O43237 | DC1L2_HUMAN | MAPVGVEKKLLLGPNGPAVAAAGDLTSEEEEGQSLWSSILSEVSTRARSKLPSGKNILVFGEDGSGKTTLMTKLQGAEHGKKGRGLEYLYLSVHDEDRDDHTRCNVWILDGDLYHKGLLKFAVSAESLPETLVIFVADMSRPWTVMESLQKWASVLREHIDKMKIPPEKMRELERKFVKDFQDYMEPEEGCQGSPQRRGPLTSGSDEENVALPLGDNVLTHNLGIPVLVVCTKCDAVSVLEKEHDYRDEHLDFIQSHLRRFCLQYGAALIYTSVKEEKNLDLLYKYIVHKTYGFHFTTPALVVEKDAVFIPAGWDNEKKI... | null | null | cellular response to nerve growth factor stimulus [GO:1990090]; centrosome localization [GO:0051642]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based movement [GO:0007018] | centrosome [GO:0005813]; cytoplasmic dynein complex [GO:0005868]; cytosol [GO:0005829]; dynein complex [GO:0030286]; kinetochore [GO:0000776]; late endosome [GO:0005770]; membrane [GO:0016020]; microtubule [GO:0005874] | ATP binding [GO:0005524]; dynein heavy chain binding [GO:0045504]; identical protein binding [GO:0042802] | PF05783; | 3.40.50.300; | Dynein light intermediate chain family | null | SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305|PubMed:36071160}. | null | null | null | null | null | FUNCTION: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organe... | Homo sapiens (Human) |
O43240 | KLK10_HUMAN | MRAPHLHLSAASGARALAKLLPLLMAQLWAAEAALLPQNDTRLDPEAYGSPCARGSQPWQVSLFNGLSFHCAGVLVDQSWVLTAAHCGNKPLWARVGDDHLLLLQGEQLRRTTRSVVHPKYHQGSGPILPRRTDEHDLMLLKLARPVVLGPRVRALQLPYRCAQPGDQCQVAGWGTTAARRVKYNKGLTCSSITILSPKECEVFYPGVVTNNMICAGLDRGQDPCQSDSGGPLVCDETLQGILSWGVYPCGSAQHPAVYTQICKYMSWINKVIRSN | 3.4.21.- | null | cell cycle [GO:0007049]; proteolysis [GO:0006508] | extracellular region [GO:0005576]; secretory granule [GO:0030141] | serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236] | PF00089; | 2.40.10.10; | Peptidase S1 family, Kallikrein subfamily | null | SUBCELLULAR LOCATION: Secreted {ECO:0000305}. | null | null | null | null | null | FUNCTION: Has a tumor-suppressor role for NES1 in breast and prostate cancer. | Homo sapiens (Human) |
O43242 | PSMD3_HUMAN | MKQEGSARRRGADKAKPPPGGGEQEPPPPPAPQDVEMKEEAATGGGSTGEADGKTAAAAAEHSQRELDTVTLEDIKEHVKQLEKAVSGKEPRFVLRALRMLPSTSRRLNHYVLYKAVQGFFTSNNATRDFLLPFLEEPMDTEADLQFRPRTGKAASTPLLPEVEAYLQLLVVIFMMNSKRYKEAQKISDDLMQKISTQNRRALDLVAAKCYYYHARVYEFLDKLDVVRSFLHARLRTATLRHDADGQATLLNLLLRNYLHYSLYDQAEKLVSKSVFPEQANNNEWARYLYYTGRIKAIQLEYSEARRTMTNALRKAPQHT... | null | null | proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; regulation of protein catabolic process [GO:0042176]; ubiquitin-dependent protein catabolic process [GO:0006511] | cytosol [GO:0005829]; extracellular exosome [GO:0070062]; 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 s... | enzyme regulator activity [GO:0030234] | PF01399;PF08375; | 1.25.40.570;1.25.40.10; | Proteasome subunit S3 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) |
O43248 | HXC11_HUMAN | MFNSVNLGNFCSPSRKERGADFGERGSCASNLYLPSCTYYMPEFSTVSSFLPQAPSRQISYPYSAQVPPVREVSYGLEPSGKWHHRNSYSSCYAAADELMHRECLPPSTVTEILMKNEGSYGGHHHPSAPHATPAGFYSSVNKNSVLPQAFDRFFDNAYCGGGDPPAEPPCSGKGEAKGEPEAPPASGLASRAEAGAEAEAEEENTNPSSSGSAHSVAKEPAKGAAPNAPRTRKKRCPYSKFQIRELEREFFFNVYINKEKRLQLSRMLNLTDRQVKIWFQNRRMKEKKLSRDRLQYFSGNPLL | null | null | anterior/posterior pattern specification [GO:0009952]; embryonic digit morphogenesis [GO:0042733]; embryonic skeletal joint morphogenesis [GO:0060272]; endoderm development [GO:0007492]; metanephros development [GO:0001656]; organ induction [GO:0001759]; positive regulation of transcription by RNA polymerase II [GO:004... | chromatin [GO:0000785]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | 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]; sequence-specific double-stranded DNA binding [GO:1990837] | PF12045;PF00046; | 1.10.10.60; | Abd-B homeobox family | null | SUBCELLULAR LOCATION: Nucleus. | null | null | null | null | null | FUNCTION: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to a promoter element of the lactase-phlorizin hydrolase gene. | Homo sapiens (Human) |
O43251 | RFOX2_HUMAN | MQNEPLTPGYHGFPARDSQGNQEPTTTPDAMVQPFTTIPFPPPPQNGIPTEYGVPHTQDYAGQTGEHNLTLYGSTQAHGEQSSNSPSTQNGSLTTEGGAQTDGQQSQTQSSENSESKSTPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKMVTPYANGWKLSPVVGAVYGPELYAASSFQADVSLGNDAAVPLSGRGGINTYIPLISLPLVPGFPYPTAATTAAAFRGAHLRGRGRTVYGAVRAVPPTAIPAYPGVVYQDGFYGAD... | null | null | intracellular estrogen receptor signaling pathway [GO:0030520]; mRNA processing [GO:0006397]; negative regulation of DNA-templated transcription [GO:0045892]; nervous system development [GO:0007399]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of cell population proliferation [GO:0... | cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | DNA-binding transcription factor binding [GO:0140297]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; transcription corepressor activity [GO:0003714] | PF12414;PF00076; | 3.30.70.330; | null | null | SUBCELLULAR LOCATION: Nucleus. Cytoplasm {ECO:0000250}. | null | null | null | null | null | FUNCTION: RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Prevents binding of U2AF2 to the 3'-splice site. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis (By similarity). RNA-binding protein that seem... | Homo sapiens (Human) |
O43252 | PAPS1_HUMAN | MEIPGSLCKKVKLSNNAQNWGMQRATNVTYQAHHVSRNKRGQVVGTRGGFRGCTVWLTGLSGAGKTTVSMALEEYLVCHGIPCYTLDGDNIRQGLNKNLGFSPEDREENVRRIAEVAKLFADAGLVCITSFISPYTQDRNNARQIHEGASLPFFEVFVDAPLHVCEQRDVKGLYKKARAGEIKGFTGIDSEYEKPEAPELVLKTDSCDVNDCVQQVVELLQERDIVPVDASYEVKELYVPENKLHLAKTDAETLPALKINKVDMQWVQVLAEGWATPLNGFMREREYLQCLHFDCLLDGGVINLSVPIVLTATHEDKERL... | 2.7.1.25; 2.7.7.4 | null | 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process [GO:0050428]; phosphorylation [GO:0016310]; skeletal system development [GO:0001501]; sulfate assimilation [GO:0000103] | cytosol [GO:0005829] | adenylylsulfate kinase activity [GO:0004020]; ATP binding [GO:0005524]; nucleotidyltransferase activity [GO:0016779]; protein homodimerization activity [GO:0042803]; sulfate adenylyltransferase (ATP) activity [GO:0004781] | PF01583;PF01747;PF14306; | 3.40.50.620;3.40.50.300;3.10.400.10; | APS kinase family; Sulfate adenylyltransferase family | null | null | CATALYTIC ACTIVITY: Reaction=ATP + H(+) + sulfate = adenosine 5'-phosphosulfate + diphosphate; Xref=Rhea:RHEA:18133, ChEBI:CHEBI:15378, ChEBI:CHEBI:16189, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58243; EC=2.7.7.4; Evidence={ECO:0000269|PubMed:14747722, ECO:0000269|PubMed:9576487, ECO:0000269|PubMed:9648242, E... | null | PATHWAY: Sulfur metabolism; sulfate assimilation. {ECO:0000269|PubMed:14747722, ECO:0000269|PubMed:9576487, ECO:0000269|PubMed:9648242, ECO:0000269|PubMed:9668121}. | null | null | FUNCTION: Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yield... | Homo sapiens (Human) |
O43255 | SIAH2_HUMAN | MSRPSSTGPSANKPCSKQPPPQPQHTPSPAAPPAAATISAAGPGSSAVPAAAAVISGPGGGGGAGPVSPQHHELTSLFECPVCFDYVLPPILQCQAGHLVCNQCRQKLSCCPTCRGALTPSIRNLAMEKVASAVLFPCKYATTGCSLTLHHTEKPEHEDICEYRPYSCPCPGASCKWQGSLEAVMSHLMHAHKSITTLQGEDIVFLATDINLPGAVDWVMMQSCFGHHFMLVLEKQEKYEGHQQFFAIVLLIGTRKQAENFAYRLELNGNRRRLTWEATPRSIHDGVAAAIMNSDCLVFDTAIAHLFADNGNLGINVTIS... | 2.3.2.27 | null | amyloid fibril formation [GO:1990000]; apoptotic process [GO:0006915]; canonical Wnt signaling pathway [GO:0060070]; cell cycle [GO:0007049]; negative regulation of apoptotic process [GO:0043066]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cysteine-type endopeptidase act... | cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; intracellular membrane-bounded organelle [GO:0043231]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654] | transcription corepressor activity [GO:0003714]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270] | PF21362;PF03145;PF21361; | 3.30.40.10; | SINA (Seven in absentia) family | PTM: Phosphorylated at Ser-28 by MAPK14, which mediates the degradation by the proteasome of EGLN3 (By similarity). Phosphorylated at Ser-28 by DYRK2; this increases the ubiquitin ligase activity and promotes degradation of EGLN3. {ECO:0000250|UniProtKB:Q06986, ECO:0000269|PubMed:22878263}. | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19224863, ECO:0000269|PubMed:22878263}. Nucleus {ECO:0000269|PubMed:22878263}. Note=Predominantly cytoplasmic. Partially nuclear. {ECO:0000269|PubMed:22878263}. | 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: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:11483518, PubMed:19224863, PubMed:9334332). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiqui... | Homo sapiens (Human) |
O43257 | ZNHI1_HUMAN | MVEKKTSVRSQDPGQRRVLDRAARQRRINRQLEALENDNFQDDPHAGLPQLGKRLPQFDDDADTGKKKKKTRGDHFKLRFRKNFQALLEEQNLSVAEGPNYLTACAGPPSRPQRPFCAVCGFPSPYTCVSCGARYCTVRCLGTHQETRCLKWTV | null | null | calcium ion homeostasis [GO:0055074]; chromatin remodeling [GO:0006338]; heart process [GO:0003015]; intestinal stem cell homeostasis [GO:0036335]; muscle cell differentiation [GO:0042692]; positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class medi... | nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; Swr1 complex [GO:0000812] | histone binding [GO:0042393]; metal ion binding [GO:0046872]; nucleosome binding [GO:0031491] | PF04438; | 3.30.60.190; | ZNHIT1 family | PTM: Phosphorylated on Thr by MAPK11 or MAPK14 (PubMed:17380123). Phosphorylation is required for MYOG induction, for deposition of histone H2AZ1 at the MYOG promoter and for SRCAP complex integrity (PubMed:20473270). {ECO:0000269|PubMed:17380123, ECO:0000269|PubMed:20473270}. | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17892483}. | null | null | null | null | null | FUNCTION: Plays a role in chromatin remodeling by promoting the incorporation of histone variant H2AZ1/H2A.Z into the genome to regulate gene expression (PubMed:20473270, PubMed:35175558). Promotes SRCAP complex-mediated deposition of histone variant H2AZ1 to lymphoid fate regulator genes, enhancing lymphoid lineage co... | Homo sapiens (Human) |
O43264 | ZW10_HUMAN | MASFVTEVLAHSGRLEKEDLGTRISRLTRRVEEIKGEVCNMISKKYSEFLPSMQSAQGLITQVDKLSEDIDLLKSRIESEVRRDLHVSTGEFTDLKQQLERDSVVLSLLKQLQEFSTAIEEYNCALTEKKYVTGAQRLEEAQKCLKLLKSRKCFDLKILKSLSMELTIQKQNILYHLGEEWQKLIVWKFPPSKDTSSLESYLQTELHLYTEQSHKEEKTPMPPISSVLLAFSVLGELHSKLKSFGQMLLKYILRPLASCPSLHAVIESQPNIVIIRFESIMTNLEYPSPSEVFTKIRLVLEVLQKQLLDLPLDTDLENEK... | null | null | cell division [GO:0051301]; endoplasmic reticulum to Golgi vesicle-mediated transport [GO:0006888]; establishment of mitotic spindle orientation [GO:0000132]; Golgi organization [GO:0007030]; meiotic cell cycle [GO:0051321]; mitotic metaphase chromosome alignment [GO:0007080]; mitotic sister chromatid segregation [GO:0... | cytosol [GO:0005829]; Dsl1/NZR complex [GO:0070939]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; kinetochore [GO:0000776]; kinetochore microtubule [GO:0005828]; lipid droplet [GO:0005811]; membrane [GO:0016020]; nucleus [GO:0005634]; RZZ complex [GO:1990423]; spindle pole [GO:000092... | centromeric DNA binding [GO:0019237] | PF20666;PF20665;PF06248; | 1.10.357.150; | ZW10 family | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15029241}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:15029241}; Peripheral membrane protein {ECO:0000269|PubMed:15029241}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:11590237, ECO:0000269|PubMed:15485811, ECO:0000269|PubMed:15824131}. Cytoplasm, ... | null | null | null | null | null | FUNCTION: Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ c... | Homo sapiens (Human) |
O43272 | PROD_HUMAN | MALRRALPALRPCIPRFVPLSTAPASREQPAAGPAAVPGGGSATAVRPPVPAVDFGNAQEAYRSRRTWELARSLLVLRLCAWPALLARHEQLLYVSRKLLGQRLFNKLMKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQYQAHWAFGDRRNGVISARTYFYANEAKCDSHMETFLRCIEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWSSL... | 1.5.5.2 | COFACTOR: Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269|PubMed:15662599}; | 4-hydroxyproline catabolic process [GO:0019470]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; proline catabolic process [GO:0006562]; proline catabolic process to glutamate [GO:0010133]; proline metabolic process [GO:0006560]; regulation of oxidative stress-induced neuron intrinsi... | intracellular membrane-bounded organelle [GO:0043231]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654] | FAD binding [GO:0071949]; proline dehydrogenase activity [GO:0004657] | PF01619; | 3.20.20.220; | Proline oxidase family | null | SUBCELLULAR LOCATION: Mitochondrion matrix. | CATALYTIC ACTIVITY: Reaction=a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+); Xref=Rhea:RHEA:23784, ChEBI:CHEBI:15378, ChEBI:CHEBI:17388, ChEBI:CHEBI:24646, ChEBI:CHEBI:60039, ChEBI:CHEBI:132124; EC=1.5.5.2; Evidence={ECO:0000269|PubMed:15662599}; | null | PATHWAY: Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 1/2. | null | null | FUNCTION: Converts proline to delta-1-pyrroline-5-carboxylate. {ECO:0000269|PubMed:15662599}. | Homo sapiens (Human) |
O43278 | SPIT1_HUMAN | MAPARTMARARLAPAGIPAVALWLLCTLGLQGTQAGPPPAPPGLPAGADCLNSFTAGVPGFVLDTNASVSNGATFLESPTVRRGWDCVRACCTTQNCNLALVELQPDRGEDAIAACFLINCLYEQNFVCKFAPREGFINYLTREVYRSYRQLRTQGFGGSGIPKAWAGIDLKVQPQEPLVLKDVENTDWRLLRGDTDVRVERKDPNQVELWGLKEGTYLFQLTVTSSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILACRGVQGGPLRGSSGAQATFPQ... | null | null | branching involved in labyrinthine layer morphogenesis [GO:0060670]; cellular response to BMP stimulus [GO:0071773]; epidermis development [GO:0008544]; epithelium development [GO:0060429]; extracellular matrix organization [GO:0030198]; negative regulation of neural precursor cell proliferation [GO:2000178]; neural tu... | cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; plasma membrane [GO:0005886] | serine-type endopeptidase inhibitor activity [GO:0004867] | PF00014;PF00057;PF07502; | 2.60.40.10;4.10.400.10;4.10.410.10; | null | null | SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9045658}. Cytoplasm {ECO:0000269|PubMed:28710277}. Cell membrane {ECO:0000269|PubMed:28710277}. | null | null | null | null | null | FUNCTION: Inhibitor of HGFAC (PubMed:9045658). Inhibits serine protease activity of ST14/matriptase in vitro (PubMed:28710277). Inhibits serine protease activity of TMPRSS13, via the BPTI/Kunitz inhibitor 1 domain (PubMed:20977675). {ECO:0000269|PubMed:20977675, ECO:0000269|PubMed:28710277, ECO:0000269|PubMed:9045658}. | Homo sapiens (Human) |
O43280 | TREA_HUMAN | MPGRTWELCLLLLLGLGLGSQEALPPPCESEIYCHGELLNQVQMAKLYQDDKQFVDMPLSIAPEQVLQTFTELSRDHNHSIPREQLQAFVHEHFQAKGQELQPWTPADWKDSPQFLQKISDAKLRAWAGQLHQLWKKLGKKMKPEVLSHPERFSLIYSEHPFIVPGGRFVEFYYWDSYWVMEGLLLSEMAETVKGMLQNFLDLVKTYGHVPNGGRVYYLQRSQPPLLTLMMDCYLTHTNDTAFLQENIETLALELDFWTKNRTVSVSLEGKNYLLNRYYVPYGGPRPESYSKDVELADTLPEGDREALWAELKAGAESGW... | 3.2.1.28 | null | animal organ morphogenesis [GO:0009887]; trehalose catabolic process [GO:0005993]; trehalose metabolic process [GO:0005991] | extracellular exosome [GO:0070062]; membrane [GO:0016020]; plasma membrane [GO:0005886]; side of membrane [GO:0098552] | alpha,alpha-trehalase activity [GO:0004555] | PF01204; | 1.50.10.10; | Glycosyl hydrolase 37 family | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P19813}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:P19813}. | CATALYTIC ACTIVITY: Reaction=alpha,alpha-trehalose + H2O = alpha-D-glucose + beta-D-glucose; Xref=Rhea:RHEA:32675, ChEBI:CHEBI:15377, ChEBI:CHEBI:15903, ChEBI:CHEBI:16551, ChEBI:CHEBI:17925; EC=3.2.1.28; Evidence={ECO:0000269|PubMed:8773341, ECO:0000269|PubMed:9427547}; | null | null | null | null | FUNCTION: Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose. {ECO:0000269|PubMed:8773341, ECO:0000269|PubMed:9427547}. | Homo sapiens (Human) |
O43281 | EFS_HUMAN | MAIATSTQLARALYDNTAESPQELSFRRGDVLRVLQREGAGGLDGWCLCSLHGQQGIVPANRVKLLPAGPAPKPSLSPASPAQPGSPYPAPDHSNEDQEVYVVPPPARPCPTSGPPAGPCPPSPDLIYKIPRASGTQLAAPRDALEVYDVPPTALRVPSSGPYDCPASFSHPLTRVAPQPPGEDDAPYDVPLTPKPPAELEPDLEWEGGREPGPPIYAAPSNLKRASALLNLYEAPEELLADGEGGGTDEGIYDVPLLGPEAPPSPEPPGALASHDQDTLAQLLARSPPPPHRPRLPSAESLSRRPLPALPVPEAPSPSP... | null | null | cell adhesion [GO:0007155]; cell migration [GO:0016477]; intracellular signal transduction [GO:0035556]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169] | cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886] | protein domain specific binding [GO:0019904]; SH3 domain binding [GO:0017124] | PF12026;PF14604; | 1.20.120.230;2.30.30.40; | CAS family | PTM: Phosphorylated on multiple tyrosine residues. Phosphorylated on tyrosines by FYN and SRC (By similarity). {ECO:0000250}. | null | null | null | null | null | null | FUNCTION: Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity). {ECO:0000250}. | Homo sapiens (Human) |
O43283 | M3K13_HUMAN | MANFQEHLSCSSSPHLPFSESKTFNGLQDELTAMGNHPSPKLLEDQQEKGMVRTELIESVHSPVTTTVLTSVSEDSRDQFENSVLQLREHDESETAVSQGNSNTVDGESTSGTEDIKIQFSRSGSGSGGFLEGLFGCLRPVWNIIGKAYSTDYKLQQQDTWEVPFEEISELQWLGSGAQGAVFLGKFRAEEVAIKKVREQNETDIKHLRKLKHPNIIAFKGVCTQAPCYCIIMEYCAHGQLYEVLRAGRKITPRLLVDWSTGIASGMNYLHLHKIIHRDLKSPNVLVTHTDAVKISDFGTSKELSDKSTKMSFAGTVAWM... | 2.7.11.25 | COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250|UniProtKB:Q60700}; | JNK cascade [GO:0007254]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of axon extension [GO:0045773]; positive regulation of branching morphogenesis of a nerve [GO:1905492]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of neuron maturation [GO:0014042]; positive reg... | cytoplasm [GO:0005737]; membrane [GO:0016020] | ATP binding [GO:0005524]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; IkappaB kinase complex binding [GO:0106137]; JUN kinase kinase kinase activity [GO:0004706]; MAP kinase kinase kinase activity [GO:0004709]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; prot... | PF07714; | 1.10.510.10; | Protein kinase superfamily, STE Ser/Thr protein kinase family, MAP kinase kinase kinase subfamily | PTM: Autophosphorylated on serine and threonine residues. {ECO:0000269|PubMed:9353328}. | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9353328}. Membrane {ECO:0000269|PubMed:9353328}; Peripheral membrane protein {ECO:0000269|PubMed:9353328}. | 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=2.7.11.25; Evidence={ECO:0000269|PubMed:9353328}; CATALYTIC... | null | null | null | null | FUNCTION: Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7. Acts synergistically with PRDX3 to regulate the activation of NF-kappa-B in the cytosol. This activation is kinase-dependent and involves activating the IKK complex, the IKBKB-containing complex that phosphorylates inhibi... | Homo sapiens (Human) |
O43286 | B4GT5_HUMAN | MRARRGLLRLPRRSLLAALFFFSLSSSLLYFVYVAPGIVNTYLFMMQAQGILIRDNVRTIGAQVYEQVLRSAYAKRNSSVNDSDYPLDLNHSETFLQTTTFLPEDFTYFANHTCPERLPSMKGPIDINMSEIGMDYIHELFSKDPTIKLGGHWKPSDCMPRWKVAILIPFRNRHEHLPVLFRHLLPMLQRQRLQFAFYVVEQVGTQPFNRAMLFNVGFQEAMKDLDWDCLIFHDVDHIPESDRNYYGCGQMPRHFATKLDKYMYLLPYTEFFGGVSGLTVEQFRKINGFPNAFWGWGGEDDDLWNRVQNAGYSVSRPEGD... | 2.4.1.-; 2.4.1.274 | COFACTOR: Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250|UniProtKB:Q9UBX8}; | carbohydrate metabolic process [GO:0005975]; central nervous system myelination [GO:0022010]; central nervous system neuron axonogenesis [GO:0021955]; ganglioside biosynthetic process via lactosylceramide [GO:0010706]; glycoprotein biosynthetic process [GO:0009101]; glycosylation [GO:0070085]; neuron maturation [GO:004... | Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139] | galactosyltransferase activity [GO:0008378]; metal ion binding [GO:0046872]; N-acetyllactosamine synthase activity [GO:0003945]; UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity [GO:0008489] | PF02709;PF13733; | null | Glycosyltransferase 7 family | null | SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250|UniProtKB:P15291}; Single-pass type II membrane protein. Golgi apparatus {ECO:0000250|UniProtKB:A0A1S6M251}. Note=Trans cisternae of Golgi stack. {ECO:0000250|UniProtKB:P15291}. | CATALYTIC ACTIVITY: Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + UDP-alpha-D-galactose = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:31495, ChEBI:CHEBI:15378, ChEBI:CHEBI:17950, ChEBI:CHEBI:22801, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914; EC=2.4.1.274; Evidence={ECO:0000... | null | PATHWAY: Protein modification; protein glycosylation.; PATHWAY: Sphingolipid metabolism. | null | null | FUNCTION: Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal ... | Homo sapiens (Human) |
O43290 | SNUT1_HUMAN | MGSSKKHRGEKEAAGTTAAAGTGGATEQPPRHREHKKHKHRSGGSGGSGGERRKRSRERGGERGSGRRGAEAEARSSTHGRERSQAEPSERRVKREKRDDGYEAAASSKTSSGDASSLSIEETNKLRAKLGLKPLEVNAIKKEAGTKEEPVTADVINPMALRQREELREKLAAAKEKRLLNQKLGKIKTLGEDDPWLDDTAAWIERSRQLQKEKDLAEKRAKLLEEMDQEFGVSTLVEEEFGQRRQDLYSARDLQGLTVEHAIDSFREGETMILTLKDKGVLQEEEDVLVNVNLVDKERAEKNVELRKKKPDYLPYAEDE... | null | null | maturation of 5S rRNA [GO:0000481]; mRNA cis splicing, via spliceosome [GO:0045292]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of cytotoxic T cell differentiation [GO:0045585]; spliceosomal snRNP assembly [GO:0000387] | Cajal body [GO:0015030]; catalytic step 2 spliceosome [GO:0071013]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540] | RNA binding [GO:0003723] | PF19252;PF03343; | null | SNU66/SART1 family | PTM: Sumoylated with SUMO2. | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11350945, ECO:0000269|PubMed:9449708}. Note=Found in the nucleus of mitogen-activated peripheral blood mononuclear cells (PBMCs), tumor cells, or normal cell lines, but not in normal tissues except testis and fetal liver or in unstimulated PBMCs, suggesting preferential... | null | null | null | null | null | FUNCTION: Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. May also bind to DNA. {ECO:0000269|PubMed:11350945, ECO:0000269|PubMed:25092792}. | Homo sapiens (Human) |
O43291 | SPIT2_HUMAN | MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIHDFCLVSKVVGRCRASMPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTVWSSGDDKEQLVKNTYVL | null | null | basement membrane organization [GO:0071711]; cellular response to BMP stimulus [GO:0071773]; epithelial cell morphogenesis involved in placental branching [GO:0060672]; establishment or maintenance of cell polarity [GO:0007163]; negative regulation of cell motility [GO:2000146]; negative regulation of cell-cell adhesio... | cytoplasm [GO:0005737]; extracellular region [GO:0005576]; membrane [GO:0016020]; plasma membrane [GO:0005886] | endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867] | PF00014; | 4.10.410.10; | null | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28710277, ECO:0000269|PubMed:34562451}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:28710277}. | null | null | null | null | null | FUNCTION: Inhibitor of HGFAC (PubMed:9346890). Also inhibits plasmin, and plasma and tissue kallikrein (PubMed:9115294). Inhibits serine protease activity of TMPRSS13 (PubMed:20977675, PubMed:28710277). Inhibits serine protease activity of ST14/matriptase in vitro (PubMed:28710277). {ECO:0000269|PubMed:20977675, ECO:00... | Homo sapiens (Human) |
O43292 | GPAA1_HUMAN | MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLR... | null | null | attachment of GPI anchor to protein [GO:0016255]; protein retention in ER lumen [GO:0006621]; protein-containing complex assembly [GO:0065003] | centrosome [GO:0005813]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; GPI-anchor transamidase complex [GO:0042765]; membrane [GO:0016020]; mitochondrion [GO:0005739] | tubulin binding [GO:0015631] | PF04114; | 3.40.630.10; | null | null | SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11483512}; Multi-pass membrane protein {ECO:0000269|PubMed:11483512}. | null | null | PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. | null | null | FUNCTION: Component of the GPI transamidase complex, necessary for transfer of GPI to proteins (PubMed:34576938). Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate. {ECO:0000269|PubMed:29100095, ECO:0000269|PubMed:34576938, ECO:0000... | Homo sapiens (Human) |
O43293 | DAPK3_HUMAN | MSTFRQEDVEDHYEMGEELGSGQFAIVRKCRQKGTGKEYAAKFIKKRRLSSSRRGVSREEIEREVNILREIRHPNIITLHDIFENKTDVVLILELVSGGELFDFLAEKESLTEDEATQFLKQILDGVHYLHSKRIAHFDLKPENIMLLDKNVPNPRIKLIDFGIAHKIEAGNEFKNIFGTPEFVAPEIVNYEPLGLEADMWSIGVITYILLSGASPFLGETKQETLTNISAVNYDFDEEYFSNTSELAKDFIRRLLVKDPKRRMTIAQSLEHSWIKAIRRRNVRGEDSGRKPERRRLKTTRLKEYTIKSHSSLPPNNSYA... | 2.7.11.1 | COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269|PubMed:10356987}; | apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; cellular response to type II interferon [GO:0071346]; chromatin organization [GO:0006325]; intracellular signal transduction [GO:0035556]; negative regulation of translation [GO:0017148]; positive regulation of apoptotic process [GO:0043065]; pos... | cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605] | ATP binding [GO:0005524]; cAMP response element binding protein binding [GO:0008140]; identical protein binding [GO:0042802]; leucine zipper domain binding [GO:0043522]; protein homodimerization activity [GO:0042803]; protein serine kinase activity [GO:0106310]; protein serine/threonine kinase activity [GO:0004674]; sm... | PF00069; | 1.10.510.10; | Protein kinase superfamily, CAMK Ser/Thr protein kinase family, DAP kinase subfamily | PTM: The phosphorylation status is critical for kinase activity, oligomerization and intracellular localization. Phosphorylation at Thr-180, Thr-225 and Thr-265 is essential for activity. The phosphorylated form is localized in the cytoplasm promoted by phosphorylation at Thr-299; nuclear translocation or retention is ... | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15367680, ECO:0000269|PubMed:15910542, ECO:0000269|PubMed:20854903}. Cytoplasm {ECO:0000269|PubMed:15367680, ECO:0000269|PubMed:15611134, ECO:0000269|PubMed:17953487, ECO:0000269|PubMed:20854903}. Note=Predominantly localizes to the cytoplasm but can shuttle between the... | 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:10356987, ECO:000026... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=12 uM for myosin (isoform 2) {ECO:0000269|PubMed:17126281}; KM=6.2 uM for myosin (isoform 1) {ECO:0000269|PubMed:17126281}; KM=73 uM for MYL12B (isoform 2) {ECO:0000269|PubMed:17126281}; KM=10.4 uM for MYL12B (isoform 1) {ECO:0000269|PubMed:17126281}; Vmax=248 nmol... | null | null | null | FUNCTION: Serine/threonine kinase which is involved in the regulation of apoptosis, autophagy, transcription, translation and actin cytoskeleton reorganization. Involved in the regulation of smooth muscle contraction. Regulates both type I (caspase-dependent) apoptotic and type II (caspase-independent) autophagic cell ... | Homo sapiens (Human) |
O43294 | TGFI1_HUMAN | MEDLDALLSDLETTTSHMPRSGAPKERPAEPLTPPPSYGHQPQTGSGESSGASGDKDHLYSTVCKPRSPKPAAPAAPPFSSSSGVLGTGLCELDRLLQELNATQFNITDEIMSQFPSSKVASGEQKEDQSEDKKRPSLPSSPSPGLPKASATSATLELDRLMASLSDFRVQNHLPASGPTQPPVVSSTNEGSPSPPEPTGKGSLDTMLGLLQSDLSRRGVPTQAKGLCGSCNKPIAGQVVTALGRAWHPEHFVCGGCSTALGGSSFFEKDGAPFCPECYFERFSPRCGFCNQPIRHKMVTALGTHWHPEHFCCVSCGEPF... | null | null | actin cytoskeleton organization [GO:0030036]; cell adhesion [GO:0007155]; cell fate commitment [GO:0045165]; epithelial cell differentiation [GO:0030855]; fat cell differentiation [GO:0045444]; heart development [GO:0007507]; morphogenesis of embryonic epithelium [GO:0016331]; muscle structure development [GO:0061061];... | adherens junction [GO:0005912]; cytosol [GO:0005829]; filamentous actin [GO:0031941]; focal adhesion [GO:0005925]; intracellular membrane-bounded organelle [GO:0043231]; nuclear matrix [GO:0016363]; stress fiber [GO:0001725]; Z disc [GO:0030018] | actin binding [GO:0003779]; I-SMAD binding [GO:0070411]; metal ion binding [GO:0046872]; muscle alpha-actinin binding [GO:0051371]; nuclear androgen receptor binding [GO:0050681]; Roundabout binding [GO:0048495]; transcription coactivator activity [GO:0003713] | PF00412;PF03535; | 2.10.110.10; | Paxillin family | PTM: Phosphorylated by gonadotropin-releasing hormone-activated SRC. {ECO:0000269|PubMed:10838081, ECO:0000269|PubMed:11311131, ECO:0000269|PubMed:11856738, ECO:0000269|PubMed:17202804, ECO:0000269|PubMed:17233630}. | SUBCELLULAR LOCATION: Cell junction, focal adhesion. Nucleus matrix. Cytoplasm, cytoskeleton. Note=Associated with the actin cytoskeleton; colocalizes with stress fibers. | null | null | null | null | null | FUNCTION: Functions as a molecular adapter coordinating multiple protein-protein interactions at the focal adhesion complex and in the nucleus. Links various intracellular signaling modules to plasma membrane receptors and regulates the Wnt and TGFB signaling pathways. May also regulate SLC6A3 and SLC6A4 targeting to t... | Homo sapiens (Human) |
O43295 | SRGP3_HUMAN | MSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIELEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMHEELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKARNDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMD... | null | null | negative regulation of cell migration [GO:0030336]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165] | cytoplasm [GO:0005737]; cytosol [GO:0005829] | GTPase activator activity [GO:0005096] | PF00611;PF00620;PF00018; | 1.20.1270.60;1.10.555.10;2.30.30.40; | null | null | null | null | null | null | null | null | FUNCTION: GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons. {ECO:0000269|PubMed:12195014, ECO:0000269|PubMed:12447388}. | Homo sapiens (Human) |
O43296 | ZN264_HUMAN | MAAAVLTDRAQVSVTFDDVAVTFTKEEWGQLDLAQRTLYQEVMLENCGLLVSLGCPVPKAELICHLEHGQEPWTRKEDLSQDTCPGDKGKPKTTEPTTCEPALSEGISLQGQVTQGNSVDSQLGQAEDQDGLSEMQEGHFRPGIDPQEKSPGKMSPECDGLGTADGVCSRIGQEQVSPGDRVRSHNSCESGKDPMIQEEENNFKCSECGKVFNKKHLLAGHEKIHSGVKPYECTECGKTFIKSTHLLQHHMIHTGERPYECMECGKAFNRKSYLTQHQRIHSGEKPYKCNECGKAFTHRSNFVLHNRRHTGEKSFVCTEC... | null | null | regulation of transcription by RNA polymerase II [GO:0006357] | nucleus [GO:0005634] | DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II cis-regulatory region sequence-specific DNA binding [GO:0000978] | PF01352;PF00096; | 6.10.140.140;3.30.160.60; | Krueppel C2H2-type zinc-finger protein family | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. | null | null | null | null | null | FUNCTION: May be involved in transcriptional regulation. | Homo sapiens (Human) |
O43298 | ZBT43_HUMAN | MEPGTNSFRVEFPDFSSTILQKLNQQRQQGQLCDVSIVVQGHIFRAHKAVLAASSPYFCDQVLLKNSRRIVLPDVMNPRVFENILLSSYTGRLVMPAPEIVSYLTAASFLQMWHVVDKCTEVLEGNPTVLCQKLNHGSDHQSPSSSSYNGLVESFELGSGGHTDFPKAQELRDGENEEESTKDELSSQLTEHEYLPSNSSTEHDRLSTEMASQDGEEGASDSAEFHYTRPMYSKPSIMAHKRWIHVKPERLEQACEGMDVHATYDEHQVTESINTVQTEHTVQPSGVEEDFHIGEKKVEAEFDEQADESNYDEQVDFYGS... | null | null | regulation of transcription by RNA polymerase II [GO:0006357] | chromatin [GO:0000785]; nucleus [GO:0005634] | DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II cis-regulatory region sequence-specific DNA binding [GO:0000978]; RNA polymerase III general transcription initiation factor binding [GO:0001025]; sequence-specific double-stranded DNA b... | PF00651; | 3.30.160.60; | Krueppel C2H2-type zinc-finger protein family | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. | null | null | null | null | null | FUNCTION: May be involved in transcriptional regulation. | Homo sapiens (Human) |
O43299 | AP5Z1_HUMAN | MFSAGAESLLHQAREIQDEELKKFCSRICKLLQAEDLGPDTLDSLQRLFLIISATKYSRRLEKTCVDLLQATLGLPACPEQLQVLCAAILREMSPSDSLSLAWDHTQNSRQLSLVASVLLAQGDRNEEVRAVGQGVLRALESRQPEGPSLRHLLPVMAKVVVLSPGTLQEDQATLLSKRLVDWLRYASLQQGLPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQWLNVQAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGSTLSVISATSSAGRLLPPRERLREVAFEYCQRLIEQSNRRALRKGDSDL... | null | null | double-strand break repair via homologous recombination [GO:0000724]; endosomal transport [GO:0016197]; protein transport [GO:0015031]; vesicle-mediated transport [GO:0016192] | AP-5 adaptor complex [GO:0044599]; AP-type membrane coat adaptor complex [GO:0030119]; cytoplasm [GO:0005737]; late endosome [GO:0005770]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | null | PF14764; | 1.25.10.10; | null | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20613862}. Nucleus {ECO:0000269|PubMed:20613862}. Note=By SDS-PAGE, 2 isoforms have been observed, the shorter seems to be predominantly nuclear and the longer is mostly cytoplasmic. {ECO:0000269|PubMed:20613862}. | null | null | null | null | null | FUNCTION: As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair. {ECO:0000269|PubMed:20613862, ECO:0000269|PubMed:22022230}. | Homo sapiens (Human) |
O43300 | LRRT2_HUMAN | MGLHFKWPLGAPMLAAIYAMSMVLKMLPALGMACPPKCRCEKLLFYCDSQGFHSVPNATDKGSLGLSLRHNHITELERDQFASFSQLTWLHLDHNQISTVKEDAFQGLYKLKELILSSNKIFYLPNTTFTQLINLQNLDLSFNQLSSLHPELFYGLRKLQTLHLRSNSLRTIPVRLFWDCRSLEFLDLSTNRLRSLARNGFAGLIKLRELHLEHNQLTKINFAHFLRLSSLHTLFLQWNKISNLTCGMEWTWGTLEKLDLTGNEIKAIDLTVFETMPNLKILLMDNNKLNSLDSKILNSLRSLTTVGLSGNLWECSARIC... | null | null | long-term synaptic potentiation [GO:0060291]; negative regulation of receptor internalization [GO:0002091]; positive regulation of synapse assembly [GO:0051965]; regulation of postsynaptic density assembly [GO:0099151]; synapse organization [GO:0050808] | excitatory synapse [GO:0060076]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; postsynaptic density membrane [GO:0098839]; postsynaptic specialization membrane [GO:0099634]; S... | neurexin family protein binding [GO:0042043] | PF13855; | 3.80.10.10; | LRRTM family | null | SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Postsynaptic cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Localized to excitatory synapses. {ECO:0000250}. | null | null | null | null | null | FUNCTION: Involved in the development and maintenance of excitatory synapses in the vertebrate nervous system. Regulates surface expression of AMPA receptors and instructs the development of functional glutamate release sites. Acts as a ligand for the presynaptic receptors NRXN1-A and NRXN1-B (By similarity). {ECO:0000... | Homo sapiens (Human) |
O43303 | CP110_HUMAN | MEEYEKFCEKSLARIQEASLSTESFLPAQSESISLIRFHGVAILSPLLNIEKRKEMQQEKQKALDVEARKQVNRKKALLTRVQEILDNVQVRKAPNASDFDQWEMETVYSNSEVRNLNVPATFPNSFPSHTEHSTAAKLDKIAGILPLDNEDQCKTDGIDLARDSEGFNSPKQCDSSNISHVENEAFPKTSSATPQETLISDGPFSVNEQQDLPLLAEVIPDPYVMSLQNLMKKSKEYIEREQSRRSLRGSINRIVNESHLDKEHDAVEVADCVKEKGQLTGKHCVSVIPDKPSLNKSNVLLQGASTQASSMSMPVLASF... | null | null | centriole replication [GO:0007099]; centrosome duplication [GO:0051298]; ciliary basal body organization [GO:0032053]; negative regulation of centriole elongation [GO:1903723]; negative regulation of cilium assembly [GO:1902018]; positive regulation of cilium assembly [GO:0045724]; regulation of cytokinesis [GO:0032465... | centriole [GO:0005814]; centrosome [GO:0005813]; cilium [GO:0005929]; cytosol [GO:0005829]; protein-containing complex [GO:0032991] | null | PF16025; | null | null | PTM: Phosphorylated by CDKs. {ECO:0000269|PubMed:12361598}.; PTM: Ubiquitinated by the SCF(CCNF) during G2 phase, leading to its degradation by the proteasome and preventing centrosome reduplication. Deubiquitinated by USP33 in S and G2/M phase, leading to stabilize CCP110 during the period which centrioles duplicate a... | SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:12361598, ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:16760425, ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:17719545, ECO:0000269|PubMed:20596027, ECO:0000269|PubMed:21620453, ECO:0000269|PubM... | null | null | null | null | null | FUNCTION: Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation (PubMed:17681131, PubMed:17719545, PubMed:23486064, PubMed:30375385, PubMed:353017... | Homo sapiens (Human) |
O43306 | ADCY6_HUMAN | MSWFSGLLVPKVDERKTAWGERNGQKRSRRRGTRAGGFCTPRYMSCLRDAEPPSPTPAGPPRCPWQDDAFIRRGGPGKGKELGLRAVALGFEDTEVTTTAGGTAEVAPDAVPRSGRSCWRRLVQVFQSKQFRSAKLERLYQRYFFQMNQSSLTLLMAVLVLLTAVLLAFHAAPARPQPAYVALLACAAALFVGLMVVCNRHSFRQDSMWVVSYVVLGILAAVQVGGALAADPRSPSAGLWCPVFFVYIAYTLLPIRMRAAVLSGLGLSTLHLILAWQLNRGDAFLWKQLGANVLLFLCTNVIGICTHYPAEVSQRQAFQE... | 4.6.1.1 | COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269|PubMed:15385642}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000269|PubMed:15385642}; Note=Binds 2 magnesium ions per subunit. Is also active with manganese (in vitro). {ECO:0000250|UniProtKB:P30803}; | adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; blood vessel diameter maintenance [GO:0097746]; cAMP biosynthetic process [GO:0006171]; cellular response to catecholamine stimulus [GO:0071870]... | cilium [GO:0005929]; membrane [GO:0016020]; plasma membrane [GO:0005886]; stereocilium [GO:0032420] | adenylate cyclase activity [GO:0004016]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase binding [GO:0019901]; protein kinase C binding [GO:0005080] | PF16214;PF06327;PF00211; | 3.30.70.1230; | Adenylyl cyclase class-4/guanylyl cyclase family | PTM: Phosphorylation by RAF1 increases enzyme activity. Phosphorylation by PKA at Ser-662 inhibits the GNAS-mediated increase in catalytic activity. Phosphorylation by PKC at Ser-556, Ser-662 and Thr-919 inhibits catalytic activity. {ECO:0000250|UniProtKB:Q03343}. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17110384}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000250|UniProtKB:Q01341}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q01341}. | CATALYTIC ACTIVITY: Reaction=ATP = 3',5'-cyclic AMP + diphosphate; Xref=Rhea:RHEA:15389, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58165; EC=4.6.1.1; Evidence={ECO:0000269|PubMed:17110384, ECO:0000269|PubMed:17916776}; | null | null | null | null | FUNCTION: Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors (PubMed:17110384, PubMed:17916776). Functions in signaling cascades downstream of beta-adrenergic receptors in the heart and in vascular smooth muscle cells (PubMed:17916776). Functions in signaling cascades downs... | Homo sapiens (Human) |
O43307 | ARHG9_HUMAN | MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELI... | null | null | regulation of postsynaptic specialization assembly [GO:0099150]; regulation of small GTPase mediated signal transduction [GO:0051056] | cytosol [GO:0005829]; GABA-ergic synapse [GO:0098982]; postsynaptic density [GO:0014069]; postsynaptic specialization [GO:0099572] | guanyl-nucleotide exchange factor activity [GO:0005085] | PF00169;PF00621;PF07653; | 1.20.900.10;2.30.29.30;2.30.30.40; | null | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10559246}. Postsynaptic density {ECO:0000250|UniProtKB:Q3UTH8}. | null | null | null | null | null | FUNCTION: Acts as a guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity). {ECO:0000250|UniProtKB:Q9QX73, ECO:0000269|PubMed:10559246}. | Homo sapiens (Human) |
O43309 | ZSC12_HUMAN | MASTWAIQAHMDQDEPLEVKIEEEKYTTRQDWDLRKNNTHSREVFRQYFRQFCYQETSGPREALSRLRELCHQWLRPETHTKEQILELLVLEQFLTILPEELQAWVQEQHPESGEEVVTVLEDLERELDEPGEQVSVHTGEQEMFLQETVRLRKEGEPSMSLQSMKAQPKYESPELESQQEQVLDVETGNEYGNLKQEVSEEMEPHGKTSSKFENDMSKSARCGETREPEEITEEPSACSREDKQPTCDENGVSLTENSDHTEHQRICPGEESYGCDDCGKAFSQHSHLIEHQRIHTGDRPYKCEECGKAFRGRTVLIRH... | null | null | regulation of transcription by RNA polymerase II [GO:0006357] | nucleus [GO:0005634] | DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II cis-regulatory region sequence-specific DNA binding [GO:0000978] | PF02023;PF00096; | 3.30.160.60;1.10.4020.10; | Krueppel C2H2-type zinc-finger protein family | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}. | null | null | null | null | null | FUNCTION: May be involved in transcriptional regulation. | Homo sapiens (Human) |
O43310 | CTIF_HUMAN | MENSSAASASSEAGSSRSQEIEELERFIDSYVLEYQVQGLLADKTEGDGESERTQSHISQWTADCSEPLDSSCSFSRGRAPPQQNGSKDNSLDMLGTDIWAANTFDSFSGATWDLQPEKLDFTQFHRKVRHTPKQPLPHIDREGCGKGKLEDGDGINLNDIEKVLPAWQGYHPMPHEVEIAHTKKLFRRRRNDRRRQQRPPGGNKPQQHGDHQPGSAKHNRDHQKSYQGGSAPHPSGRPTHHGYSQNRRWHHGNMKHPPGDKGEAGAHRNAKETMTIENPKLEDTAGDTGHSSLEAPRSPDTLAPVASERLPPQQSGGPE... | null | null | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; regulation of translational initiation [GO:0006446] | cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471] | RNA binding [GO:0003723]; translation activator activity [GO:0008494] | PF02854; | 1.25.40.180; | CTIF family | null | SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:19648179}. | null | null | null | null | null | FUNCTION: Specifically required for the pioneer round of mRNA translation mediated by the cap-binding complex (CBC), that takes place during or right after mRNA export via the nuclear pore complex (NPC). Acts via its interaction with the NCBP1/CBP80 component of the CBC complex and recruits the 40S small subunit of the... | Homo sapiens (Human) |
O43312 | MTSS1_HUMAN | MEAVIEKECSALGGLFQTIISDMKGSYPVWEDFINKAGKLQSQLRTTVVAAAAFLDAFQKVADMATNTRGGTREIGSALTRMCMRHRSIEAKLRQFSSALIDCLINPLQEQMEEWKKVANQLDKDHAKEYKKARQEIKKKSSDTLKLQKKAKKGRGDIQPQLDSALQDVNDKYLLLEETEKQAVRKALIEERGRFCTFISMLRPVIEEEISMLGEITHLQTISEDLKSLTMDPHKLPSSSEQVILDLKGSDYSWSYQTPPSSPSTTMSRKSSVCSSLNSVNSSDSRSSGSHSHSPSSHYRYRSSNLAQQAPVRLSSVSSH... | null | null | actin cytoskeleton organization [GO:0030036]; adherens junction maintenance [GO:0034334]; cell adhesion [GO:0007155]; cellular response to fluid shear stress [GO:0071498]; epithelial cell proliferation involved in renal tubule morphogenesis [GO:2001013]; glomerulus morphogenesis [GO:0072102]; microspike assembly [GO:00... | actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; endocytic vesicle [GO:0030139]; ruffle [GO:0001726] | actin binding [GO:0003779]; actin monomer binding [GO:0003785]; identical protein binding [GO:0042802]; phospholipid binding [GO:0005543]; signaling receptor binding [GO:0005102] | PF08397;PF02205; | 1.20.1270.60; | MTSS family | null | SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. | null | null | null | null | null | FUNCTION: May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton. | Homo sapiens (Human) |
O43313 | ATMIN_HUMAN | MAASEAAAAAGSAALAAGARAVPAATTGAAAAASGPWVPPGPRLRGSRPRPAGATQQPAVPAPPAGELIQPSVSELSRAVRTNILCTVRGCGKILPNSPALNMHLVKSHRLQDGIVNPTIRKDLKTGPKFYCCPIEGCPRGPERPFSQFSLVKQHFMKMHAEKKHKCSKCSNSYGTEWDLKRHAEDCGKTFRCTCGCPYASRTALQSHIYRTGHEIPAEHRDPPSKKRKMENCAQNQKLSNKTIESLNNQPIPRPDTQELEASEIKLEPSFEDSCGSNTDKQTLTTPPRYPQKLLLPKPKVALVKLPVMQFSVMPVFVPT... | null | null | DNA damage response [GO:0006974]; motile cilium assembly [GO:0044458]; positive regulation of DNA-templated transcription [GO:0045893]; positive regulation of gene expression [GO:0010628]; positive regulation of non-motile cilium assembly [GO:1902857]; positive regulation of transcription by RNA polymerase II [GO:00459... | nuclear body [GO:0016604]; nucleus [GO:0005634] | DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; dynein complex binding [GO:0070840]; metal ion binding [GO:0046872]; transcription cis-regulatory region binding [GO:0000976] | null | 3.30.160.60; | null | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15933716, ECO:0000269|PubMed:17525732}. Note=Nuclear, in discrete foci during G1 phase. | null | null | null | null | null | FUNCTION: Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription. {ECO:0000269|Pu... | Homo sapiens (Human) |
O43314 | VIP2_HUMAN | MSEAPRFFVGPEDTEINPGNYRHFFHHADEDDEEEDDSPPERQIVVGICSMAKKSKSKPMKEILERISLFKYITVVVFEEEVILNEPVENWPLCDCLISFHSKGFPLDKAVAYAKLRNPFVINDLNMQYLIQDRREVYSILQAEGILLPRYAILNRDPNNPKECNLIEGEDHVEVNGEVFQKPFVEKPVSAEDHNVYIYYPTSAGGGSQRLFRKIGSRSSVYSPESNVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSPALDGKVERDSEGKEVRYPVILNAREKLIAWKVCLAFKQTVCGFDLLRANGQSYVC... | 2.7.4.24 | null | inositol metabolic process [GO:0006020]; inositol phosphate biosynthetic process [GO:0032958]; inositol phosphate metabolic process [GO:0043647]; phosphorylation [GO:0016310]; sensory perception of sound [GO:0007605] | cytosol [GO:0005829] | ATP binding [GO:0005524]; diphosphoinositol-pentakisphosphate kinase activity [GO:0033857]; inositol heptakisphosphate kinase activity [GO:0000829]; inositol hexakisphosphate 1-kinase activity [GO:0052723]; inositol hexakisphosphate 3-kinase activity [GO:0052724]; inositol hexakisphosphate 5-kinase activity [GO:0000832... | PF00328;PF18086; | 3.40.50.11950;3.30.470.20;3.40.50.1240; | Histidine acid phosphatase family, VIP1 subfamily | null | SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:17690096}. | CATALYTIC ACTIVITY: Reaction=1D-myo-inositol hexakisphosphate + ATP = 1-diphospho-1D-myo-inositol 2,3,4,5,6-pentakisphosphate + ADP; Xref=Rhea:RHEA:37459, ChEBI:CHEBI:30616, ChEBI:CHEBI:58130, ChEBI:CHEBI:74946, ChEBI:CHEBI:456216; EC=2.7.4.24; Evidence={ECO:0000269|PubMed:21222653, ECO:0000269|PubMed:29590114}; Physio... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.13 uM for InsP6 {ECO:0000269|PubMed:17690096}; KM=0.19 uM for InsP7 {ECO:0000269|PubMed:17690096}; Vmax=0.39 nmol/min/mg enzyme with InsP6 as substrate {ECO:0000269|PubMed:17690096}; Vmax=1.38 nmol/min/mg enzyme with InsP7 as substrate {ECO:0000269|PubMed:1769009... | null | null | null | FUNCTION: Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4 (PubMed:17690096, PubMed:17702752, PubMe... | Homo sapiens (Human) |
O43315 | AQP9_HUMAN | MQPEGAEKGKSFKQRLVLKSSLAKETLSEFLGTFILIVLGCGCVAQAILSRGRFGGVITINVGFSMAVAMAIYVAGGVSGGHINPAVSLAMCLFGRMKWFKLPFYVGAQFLGAFVGAATVFGIYYDGLMSFAGGKLLIVGENATAHIFATYPAPYLSLANAFADQVVATMILLIIVFAIFDSRNLGAPRGLEPIAIGLLIIVIASSLGLNSGCAMNPARDLSPRLFTALAGWGFEVFRAGNNFWWIPVVGPLVGAVIGGLIYVLVIEIHHPEPDSVFKTEQSEDKPEKYELSVIM | null | null | amine transport [GO:0015837]; canalicular bile acid transport [GO:0015722]; cellular response to cAMP [GO:0071320]; glycerol transmembrane transport [GO:0015793]; purine nucleobase transport [GO:0006863]; pyrimidine nucleobase transport [GO:0015855]; response to pain [GO:0048265]; urea transmembrane transport [GO:00719... | basolateral plasma membrane [GO:0016323]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886] | glycerol channel activity [GO:0015254]; purine nucleobase transmembrane transporter activity [GO:0005345]; pyrimidine nucleobase transmembrane transporter activity [GO:0005350]; urea channel activity [GO:0015265]; urea transmembrane transporter activity [GO:0015204]; water channel activity [GO:0015250] | PF00230; | 1.20.1080.10; | MIP/aquaporin (TC 1.A.8) family | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10564231, ECO:0000269|PubMed:9514918}; Multi-pass membrane protein {ECO:0000305}. | null | null | null | null | null | FUNCTION: Forms a water channel with a broad specificity. Also permeable glycerol and urea. Mediates passage of a wide variety of small, non-charged solutes including carbamides, polyols, purines, and pyrimidines. {ECO:0000269|PubMed:10564231, ECO:0000269|PubMed:30420639, ECO:0000269|PubMed:9514918}. | Homo sapiens (Human) |
O43316 | PAX4_HUMAN | MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPRLATPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSETPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGASQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWDCGSFLLPVIAPSCVD... | null | null | animal organ morphogenesis [GO:0009887]; cell differentiation [GO:0030154]; regulation of transcription by RNA polymerase II [GO:0006357] | chromatin [GO:0000785]; nucleoplasm [GO:0005654] | DNA binding [GO:0003677]; 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 double-stranded DNA binding [GO:1990837] | PF00046;PF00292; | 1.10.10.60;1.10.10.10; | Paired homeobox family | null | SUBCELLULAR LOCATION: Nucleus. | null | null | null | null | null | FUNCTION: Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form ... | Homo sapiens (Human) |
O43318 | M3K7_HUMAN | MSTASAASSSSSSSAGEMIEAPSQVLNFEEIDYKEIEVEEVVGRGAFGVVCKAKWRAKDVAIKQIESESERKAFIVELRQLSRVNHPNIVKLYGACLNPVCLVMEYAEGGSLYNVLHGAEPLPYYTAAHAMSWCLQCSQGVAYLHSMQPKALIHRDLKPPNLLLVAGGTVLKICDFGTACDIQTHMTNNKGSAAWMAPEVFEGSNYSEKCDVFSWGIILWEVITRRKPFDEIGGPAFRIMWAVHNGTRPPLIKNLPKPIESLMTRCWSKDPSQRPSMEEIVKIMTHLMRYFPGADEPLQYPCQYSDEGQSNSATSTGSFM... | 2.7.11.25 | COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000305|PubMed:16289117}; | activation of NF-kappaB-inducing kinase activity [GO:0007250]; anoikis [GO:0043276]; canonical NF-kappaB signal transduction [GO:0007249]; cellular response to angiotensin [GO:1904385]; cellular response to hypoxia [GO:0071456]; cellular response to tumor necrosis factor [GO:0071356]; cytoplasmic pattern recognition re... | ATAC complex [GO:0140672]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; endosome membrane [GO:0010008]; nucleus [GO:0005634]; plasma membrane [GO:0005886] | ATP binding [GO:0005524]; DNA-binding transcription factor binding [GO:0140297]; histone kinase activity [GO:0035173]; identical protein binding [GO:0042802]; linear polyubiquitin binding [GO:1990450]; magnesium ion binding [GO:0000287]; MAP kinase activity [GO:0004707]; MAP kinase kinase kinase activity [GO:0004709]; ... | PF07714; | 1.10.510.10; | Protein kinase superfamily, STE Ser/Thr protein kinase family, MAP kinase kinase kinase subfamily | PTM: Association with TAB1/MAP3K7IP1 promotes autophosphorylation at Ser-192 and subsequent activation. Association with TAB2/MAP3K7IP2, itself associated with free unanchored Lys-63 polyubiquitin chain, promotes autophosphorylation and subsequent activation of MAP3K7. Dephosphorylation at Ser-192 by PPM1B/PP2CB and at... | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12242293}. Cell membrane {ECO:0000269|PubMed:12242293}; Peripheral membrane protein {ECO:0000269|PubMed:12242293}; Cytoplasmic side {ECO:0000269|PubMed:12242293}. Note=Although the majority of MAP3K7/TAK1 is found in the cytosol, when complexed with TAB1/MAP3K7IP1 and... | 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=2.7.11.25; Evidence={ECO:0000269|PubMed:10094049, ECO:00002... | null | null | null | null | FUNCTION: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway (PubMed:10094049, PubMed:11460167, PubMed:12589052, PubMed:16845370, PubMed:16893890, PubMed:21512573, PubMed:8663074, PubMed:9079627). Plays an important role in the cascades of cellular responses evoke... | Homo sapiens (Human) |
O43320 | FGF16_HUMAN | MAEVGGVFASLDWDLHGFSSSLGNVPLADSPGFLNERLGQIEGKLQRGSPTDFAHLKGILRRRQLYCRTGFHLEIFPNGTVHGTRHDHSRFGILEFISLAVGLISIRGVDSGLYLGMNERGELYGSKKLTRECVFREQFEENWYNTYASTLYKHSDSERQYYVALNKDGSPREGYRTKRHQKFTHFLPRPVDPSKLPSMSRDLFHYR | null | null | animal organ morphogenesis [GO:0009887]; cell differentiation [GO:0030154]; cell-cell signaling [GO:0007267]; fibroblast growth factor receptor signaling pathway [GO:0008543]; positive regulation of cell population proliferation [GO:0008284]; positive regulation of endothelial cell chemotaxis to fibroblast growth facto... | cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615] | fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083] | PF00167; | 2.80.10.50; | Heparin-binding growth factors family | null | SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:O54769}. | null | null | null | null | null | FUNCTION: Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development. {ECO:0000269|PubMed:16597617}. | Homo sapiens (Human) |
O43323 | DHH_HUMAN | MALLTNLLPLCCLALLALPAQSCGPGRGPVGRRRYARKQLVPLLYKQFVPGVPERTLGASGPAEGRVARGSERFRDLVPNYNPDIIFKDEENSGADRLMTERCKERVNALAIAVMNMWPGVRLRVTEGWDEDGHHAQDSLHYEGRALDITTSDRDRNKYGLLARLAVEAGFDWVYYESRNHVHVSVKADNSLAVRAGGCFPGNATVRLWSGERKGLRELHRGDWVLAADASGRVVPTPVLLFLDRDLQRRASFVAVETEWPPRKLLLTPWHLVFAARGPAPAPGDFAPVFARRLRAGDSVLAPGGDALRPARVARVAREE... | 3.1.-.- | null | cell fate specification [GO:0001708]; cell-cell signaling [GO:0007267]; Leydig cell differentiation [GO:0033327]; male sex determination [GO:0030238]; myelination [GO:0042552]; osteoblast differentiation [GO:0001649]; positive regulation of smoothened signaling pathway [GO:0045880]; protein autoprocessing [GO:0016540];... | endoplasmic reticulum membrane [GO:0005789]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886] | calcium ion binding [GO:0005509]; cholesterol-protein transferase activity [GO:0140853]; patched binding [GO:0005113]; peptidase activity [GO:0008233]; zinc ion binding [GO:0008270] | PF01085;PF01079; | 3.30.1380.10;2.170.16.10; | Hedgehog family | PTM: [Desert hedgehog protein]: Partially autoproteolyzed (PubMed:24342078, PubMed:30298535). The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moie... | SUBCELLULAR LOCATION: [Desert hedgehog protein N-product]: Cell membrane {ECO:0000250|UniProtKB:Q62226}; Lipid-anchor {ECO:0000250|UniProtKB:Q62226}.; SUBCELLULAR LOCATION: [Desert hedgehog protein]: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q15465}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q15465}. ... | CATALYTIC ACTIVITY: [Desert hedgehog protein]: Reaction=cholesterol + glycyl-L-cysteinyl-[protein] + H(+) = [protein]-C-terminal glycyl cholesterol ester + N-terminal L-cysteinyl-[protein]; Xref=Rhea:RHEA:59504, Rhea:RHEA-COMP:12707, Rhea:RHEA-COMP:15369, Rhea:RHEA-COMP:15374, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEB... | null | null | null | null | FUNCTION: [Desert hedgehog protein]: The C-terminal part of the desert hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (N-product and C-product) followed by the covalent attach... | Homo sapiens (Human) |
O43324 | MCA3_HUMAN | MAAAAELSLLEKSLGLSKGNKYSAQGERQIPVLQTNNGPSLTGLTTIAAHLVKQANKEYLLGSTAEEKAIVQQWLEYRVTQVDGHSSKNDIHTLLKDLNSYLEDKVYLTGYNFTLADILLYYGLHRFIVDLTVQEKEKYLNVSRWFCHIQHYPGIRQHLSSVVFIKNRLYTNSH | null | null | cellular response to leukemia inhibitory factor [GO:1990830]; negative regulation of cell population proliferation [GO:0008285]; positive regulation of apoptotic process [GO:0043065]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of cellular senescence [GO:2000774]; positive regul... | aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | null | PF00043; | 1.20.1050.10;3.40.30.90; | null | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15680327}. Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}. Nucleus {ECO:0000269|PubMed:15680327}. Note=Cytoplasmic under growth arrest conditions. Translocated into the nucleus when growth resumes (S phase) and following DNA damage. | null | null | null | null | null | FUNCTION: Positive modulator of ATM response to DNA damage. {ECO:0000250|UniProtKB:Q9D1M4}. | Homo sapiens (Human) |
O43353 | RIPK2_HUMAN | MNGEAICSALPTIPYHKLADLRYLSRGASGTVSSARHADWRVQVAVKHLHIHTPLLDSERKDVLREAEILHKARFSYILPILGICNEPEFLGIVTEYMPNGSLNELLHRKTEYPDVAWPLRFRILHEIALGVNYLHNMTPPLLHHDLKTQNILLDNEFHVKIADFGLSKWRMMSLSQSRSSKSAPEGGTIIYMPPENYEPGQKSRASIKHDIYSYAVITWEVLSRKQPFEDVTNPLQIMYSVSQGHRPVINEESLPYDIPHRARMISLIESGWAQNPDERPSFLKCLIELEPVLRTFEEITFLEAVIQLKKTKLQSVSSA... | 2.7.10.2; 2.7.11.1 | null | activation of cysteine-type endopeptidase activity [GO:0097202]; adaptive immune response [GO:0002250]; apoptotic process [GO:0006915]; canonical NF-kappaB signal transduction [GO:0007249]; CD4-positive, alpha-beta T cell proliferation [GO:0035739]; cellular response to lipoteichoic acid [GO:0071223]; cellular response... | cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; vesicle [GO:0031982] | ATP binding [GO:0005524]; CARD domain binding [GO:0050700]; caspase binding [GO:0089720]; identical protein binding [GO:0042802]; JUN kinase kinase kinase activity [GO:0004706]; LIM domain binding [GO:0030274]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein homodimerization activity [GO:00... | PF00619;PF07714; | 1.10.533.10;1.10.510.10; | Protein kinase superfamily, TKL Ser/Thr protein kinase family | PTM: Polyubiquitinated via both 'Lys-63'- and 'Met-1'-linked polyubiquitin following recruitment by NOD1 or NOD2, creating docking sites for downstream effectors, triggering activation of the NF-kappa-B and MAP kinases signaling (PubMed:22607974, PubMed:29452636, PubMed:30026309). 'Lys-63'-linked polyubiquitination by ... | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21887730}. Cell membrane {ECO:0000269|PubMed:17355968}; Peripheral membrane protein {ECO:0000305|PubMed:17355968}. Endoplasmic reticulum {ECO:0000269|PubMed:28656966}. Note=Recruited to the cell membrane by NOD2 following stimulation by bacterial peptidoglycans. {ECO:... | 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:16824733}; CATALYTIC... | null | null | null | null | FUNCTION: Serine/threonine/tyrosine-protein kinase that plays an essential role in modulation of innate and adaptive immune responses (PubMed:14638696, PubMed:17054981, PubMed:21123652, PubMed:28656966, PubMed:9575181, PubMed:9642260). Acts as a key effector of NOD1 and NOD2 signaling pathways: upon activation by bacte... | Homo sapiens (Human) |
O43364 | HXA2_HUMAN | MNYEFEREIGFINSQPSLAECLTSFPPVADTFQSSSIKTSTLSHSTLIPPPFEQTIPSLNPGSHPRHGAGGRPKPSPAGSRGSPVPAGALQPPEYPWMKEKKAAKKTALLPAAAAAATAAATGPACLSHKESLEIADGSGGGSRRLRTAYTNTQLLELEKEFHFNKYLCRPRRVEIAALLDLTERQVKVWFQNRRMKHKRQTQCKENQNSEGKCKSLEDSEKVEEDEEEKTLFEQALSVSGALLEREGYTFQQNALSQQQAPNGHNGDSQSFPVSPLTSNEKNLKHFQHQSPTVPNCLSTMGQNCGAGLNNDSPEALEVP... | null | null | anterior/posterior pattern specification [GO:0009952]; brain segmentation [GO:0035284]; cell fate determination [GO:0001709]; cellular response to retinoic acid [GO:0071300]; dorsal/ventral pattern formation [GO:0009953]; embryonic viscerocranium morphogenesis [GO:0048703]; middle ear morphogenesis [GO:0042474]; motor ... | chromatin [GO:0000785]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654] | DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II cis-regulatory region sequence-specific DNA binding [GO:0000978]; sequence-specific double-stranded DNA binding [GO:1990837] | PF00046; | 1.10.10.60; | Antp homeobox family, Proboscipedia subfamily | null | SUBCELLULAR LOCATION: Nucleus. | null | null | null | null | null | FUNCTION: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. | Homo sapiens (Human) |
O43365 | HXA3_HUMAN | MQKATYYDSSAIYGGYPYQAANGFAYNANQQPYPASAALGADGEYHRPACSLQSPSSAGGHPKAHELSEACLRTLSAPPSQPPSLGEPPLHPPPPQAAPPAPQPPQPAPQPPAPTPAAPPPPSSASPPQNASNNPTPANAAKSPLLNSPTVAKQIFPWMKESRQNTKQKTSSSSSGESCAGDKSPPGQASSKRARTAYTSAQLVELEKEFHFNRYLCRPRRVEMANLLNLTERQIKIWFQNRRMKYKKDQKGKGMLTSSGGQSPSRSPVPPGAGGYLNSMHSLVNSVPYEPQSPPPFSKPPQGTYGLPPASYPASLPSCA... | null | null | angiogenesis [GO:0001525]; animal organ formation [GO:0048645]; anterior/posterior pattern specification [GO:0009952]; blood vessel remodeling [GO:0001974]; cartilage development [GO:0051216]; embryonic skeletal system morphogenesis [GO:0048704]; gene expression [GO:0010467]; glossopharyngeal nerve morphogenesis [GO:00... | chromatin [GO:0000785]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; HMG box domain binding [GO:0071837]; RNA polymerase II cis-regulatory region sequence-specific DNA binding [GO:0000978] | PF13293;PF00046; | 1.10.10.60; | Antp homeobox family | null | SUBCELLULAR LOCATION: Nucleus. | null | null | null | null | null | FUNCTION: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. | Homo sapiens (Human) |
O43374 | RASL2_HUMAN | MAKRSSLYIRIVEGKNLPAKDITGSSDPYCIVKVDNEPIIRTATVWKTLCPFWGEEYQVHLPPTFHAVAFYVMDEDALSRDDVIGKVCLTRDTIASHPKGFSGWAHLTEVDPDEEVQGEIHLRLEVWPGARACRLRCSVLEARDLAPKDRNGTSDPFVRVRYKGRTRETSIVKKSCYPRWNETFEFELQEGAMEALCVEAWDWDLVSRNDFLGKVVIDVQRLRVVQQEEGWFRLQPDQSKSRRHDEGNLGSLQLEVRLRDETVLPSSYYQPLVHLLCHEVKLGMQGPGQLIPLIEETTSTECRQDVATNLLKLFLGQGLA... | null | COFACTOR: Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000255|PROSITE-ProRule:PRU00041}; Note=Binds 3 Ca(2+) ions per C2 domain. {ECO:0000255|PROSITE-ProRule:PRU00041}; | cellular response to calcium ion [GO:0071277]; intracellular signal transduction [GO:0035556]; negative regulation of GTPase activity [GO:0034260]; negative regulation of Ras protein signal transduction [GO:0046580] | cytosol [GO:0005829]; plasma membrane [GO:0005886] | GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; phospholipid binding [GO:0005543] | PF00779;PF00168;PF00169;PF00616; | 2.60.40.150;2.30.29.30; | null | null | SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11448776}. Cell membrane {ECO:0000269|PubMed:11448776}; Peripheral membrane protein {ECO:0000269|PubMed:11448776}. Note=Localized to the cytosol as a result of its lack of phosphoinositide binding activity. Upon agonist-stimulated calcium mobilization, utiliz... | null | null | null | null | null | FUNCTION: Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. Functions as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis. {ECO:0000269|PubMed:11448776}. | Homo sapiens (Human) |
O43379 | WDR62_HUMAN | MAAVGSGGYARNDAGEKLPSVMAGVPARRGQSSPPPAPPICLRRRTRLSTASEETVQNRVSLEKVLGITAQNSSGLTCDPGTGHVAYLAGCVVVILDPKENKQQHIFNTARKSLSALAFSPDGKYIVTGENGHRPAVRIWDVEEKNQVAEMLGHKYGVACVAFSPNMKHIVSMGYQHDMVLNVWDWKKDIVVASNKVSCRVIALSFSEDSSYFVTVGNRHVRFWFLEVSTETKVTSTVPLVGRSGILGELHNNIFCGVACGRGRMAGSTFCVSYSGLLCQFNEKRVLEKWINLKVSLSSCLCVSQELIFCGCTDGIVRIF... | null | null | centriole replication [GO:0007099]; cerebral cortex development [GO:0021987]; mitotic spindle organization [GO:0007052]; neurogenesis [GO:0022008]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of neuron migration [GO:2001224]; regulation of centrosome cycle [GO:0046605]; regulation ... | centriolar satellite [GO:0034451]; centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; spindle pole [GO:0000922] | null | PF12894;PF00400; | 2.130.10.10; | null | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20729831, ECO:0000269|PubMed:21496009}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:20890278, ECO:0000269|PubMed:20890279, ECO:0000269|PubMed:28089251}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20890278, ECO:00... | null | null | null | null | null | FUNCTION: Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20729831, PubMed:20890278). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centr... | Homo sapiens (Human) |
O43390 | HNRPR_HUMAN | MANQVNGNAVQLKEEEEPMDTSSVTHTEHYKTLIEAGLPQKVAERLDEIFQTGLVAYVDLDERAIDALREFNEEGALSVLQQFKESDLSHVQNKSAFLCGVMKTYRQREKQGSKVQESTKGPDEAKIKALLERTGYTLDVTTGQRKYGGPPPDSVYSGVQPGIGTEVFVGKIPRDLYEDELVPLFEKAGPIWDLRLMMDPLSGQNRGYAFITFCGKEAAQEAVKLCDSYEIRPGKHLGVCISVANNRLFVGSIPKNKTKENILEEFSKVTEGLVDVILYHQPDDKKKNRGFCFLEYEDHKSAAQARRRLMSGKVKVWGNV... | null | null | mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398] | catalytic step 2 spliceosome [GO:0071013]; endoplasmic reticulum [GO:0005783]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; spliceosomal complex [GO:0005681] | mRNA binding [GO:0003729]; RNA binding [GO:0003723] | PF18360;PF00076; | 3.30.70.330; | null | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:31079900}. Microsome {ECO:0000250|UniProtKB:Q7TMK9}. Nucleus, nucleoplasm {ECO:0000269|PubMed:17289661}. Cytoplasm {ECO:0000269|PubMed:17289661}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. The tyrosine phosphorylated form bound to RNA is ... | null | null | null | null | null | FUNCTION: Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus. | Homo sapiens (Human) |
O43395 | PRPF3_HUMAN | MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRSSRHSKSSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPS... | null | null | mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]; spliceosomal tri-snRNP complex assembly [GO:0000244] | Cajal body [GO:0015030]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540] | identical protein binding [GO:0042802]; RNA binding [GO:0003723] | PF08572;PF06544;PF01480; | 1.20.1390.10; | null | PTM: Ubiquitinated. Undergoes 'Lys-63'-linked polyubiquitination by PRPF19 and deubiquitination by USP4. 'Lys-63'-linked ubiquitination increases the affinity for PRPF8 and may regulate the assembly of the U4/U6-U5 tri-snRNP complex. {ECO:0000269|PubMed:20595234}. | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17932117, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:9328476, ECO:0000269|PubMed:9404889}. Nucleus speckle. | null | null | null | null | null | FUNCTION: Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). {ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166, ECO:0000305|PubMed:20595234}. | Homo sapiens (Human) |
O43396 | TXNL1_HUMAN | MVGVKPVGSDPDFQPELSGAGSRLAVVKFTMRGCGPCLRIAPAFSSMSNKYPQAVFLEVDVHQCQGTAATNNISATPTFLFFRNKVRIDQYQGADAVGLEEKIKQHLENDPGSNEDTDIPKGYMDLMPFINKAGCECLNESDEHGFDNCLRKDTTFLESDCDEQLLITVAFNQPVKLYSMKFQGPDNGQGPKYVKIFINLPRSMDFEEAERSEPTQALELTEDDIKEDGIVPLRYVKFQNVNSVTIFVQSNQGEEETTRISYFTFIGTPVQATNMNDFKRVVGKKGESH | null | null | null | cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; proteasome complex [GO:0000502] | disulfide oxidoreductase activity [GO:0015036]; protein-disulfide reductase activity [GO:0015035] | PF06201;PF00085; | 3.40.30.10;2.60.120.470; | null | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19349277}. Nucleus {ECO:0000269|PubMed:19349277}. Note=At least 85% of the cellular TXNL1 is proteasome-associated. | null | null | null | null | null | FUNCTION: Active thioredoxin with a redox potential of about -250 mV. {ECO:0000269|PubMed:19349277}. | Homo sapiens (Human) |
O43399 | TPD54_HUMAN | MDSAGQDINLNSPNKGLLSDSMTDVPVDTGVAARTPAVEGLTEAEEEELRAELTKVEEEIVTLRQVLAAKERHCGELKRRLGLSTLGELKQNLSRSWHDVQVSSAYVKTSEKLGEWNEKVTQSDLYKKTQETLSQAGQKTSAALSTVGSAISRKLGDMRNSATFKSFEDRVGTIKSKVVGDRENGSDNLPSSAGSGDKPLSDPAPF | null | null | carbohydrate metabolic process [GO:0005975]; regulation of cell population proliferation [GO:0042127] | cytoplasm [GO:0005737]; perinuclear region of cytoplasm [GO:0048471] | protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723] | PF04201; | 1.50.10.10; | TPD52 family | null | null | null | null | null | null | null | null | Homo sapiens (Human) |
O43402 | EMC8_HUMAN | MPGVKLTTQAYCKMVLHGAKYPHCAVNGLLVAEKQKPRKEHLPLGGPGAHHTLFVDCIPLFHGTLALAPMLEVALTLIDSWCKDHSYVIAGYYQANERVKDASPNQVAEKVASRIAEGFSDTALIMVDNTKFTMDCVAPTIHVYEHHENRWRCRDPHHDYCEDWPEAQRISASLLDSRSYETLVDFDNHLDDIRNDWTNPEINKAVLHLC | null | null | protein insertion into ER membrane by stop-transfer membrane-anchor sequence [GO:0045050]; tail-anchored membrane protein insertion into ER membrane [GO:0071816] | cytoplasm [GO:0005737]; EMC complex [GO:0072546]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; membrane [GO:0016020] | null | PF03665; | null | EMC8/EMC9 family | null | SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22119785}; Peripheral membrane protein {ECO:0000305|PubMed:32439656}; Cytoplasmic side {ECO:0000269|PubMed:32439656}. | null | null | null | null | null | FUNCTION: Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed:32439656, PubMed:32459176). Preferentially accommodates proteins... | Homo sapiens (Human) |
O43405 | COCH_HUMAN | MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDK... | null | null | regulation of cell shape [GO:0008360]; sensory perception of sound [GO:0007605] | collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576] | collagen binding [GO:0005518] | PF03815;PF00092; | 2.170.130.20;3.40.50.410; | null | PTM: N-glycosylated. {ECO:0000269|PubMed:12843317}.; PTM: A 50 kDa form is created by proteolytic cleavage. {ECO:0000269|PubMed:12843317}. | SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:12843317, ECO:0000269|PubMed:22610276}. | null | null | null | null | null | FUNCTION: Plays a role in the control of cell shape and motility in the trabecular meshwork. {ECO:0000269|PubMed:21886777}. | Homo sapiens (Human) |
O43422 | P52K_HUMAN | MPNFCAAPNCTRKSTQSDLAFFRFPRDPARCQKWVENCRRADLEDKTPDQLNKHYRLCAKHFETSMICRTSPYRTVLRDNAIPTIFDLTSHLNNPHSRHRKRIKELSEDEIRTLKQKKIDETSEQEQKHKETNNSNAQNPSEEEGEGQDEDILPLTLEEKENKEYLKSLFEILILMGKQNIPLDGHEADEIPEGLFTPDNFQALLECRINSGEEVLRKRFETTAVNTLFCSKTQQRQMLEICESCIREETLREVRDSHFFSIITDDVVDIAGEEHLPVLVRFVDESHNLREEFIGFLPYEADAEILAVKFHTMITEKWGL... | null | null | negative regulation of cell population proliferation [GO:0008285]; signal transduction [GO:0007165] | nucleus [GO:0005634] | DNA binding [GO:0003677]; metal ion binding [GO:0046872]; protein dimerization activity [GO:0046983] | PF05699;PF14291;PF05485; | null | null | null | null | null | null | null | null | null | FUNCTION: Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR-inhibitory function of DNAJC3, resulting in restoration of kinase activity and suppression of cell growth. | Homo sapiens (Human) |
O43424 | GRID2_HUMAN | MEVFPFLLVLSVWWSRTWDSANADSIIHIGAIFDESAKKDDEVFRTAVGDLNQNEEILQTEKITFSVTFVDGNNPFQAVQEACELMNQGILALVSSIGCTSAGSLQSLADAMHIPHLFIQRSTAGTPRSGCGLTRSNRNDDYTLSVRPPVYLHDVILRVVTEYAWQKFIIFYDSEYDIRGIQEFLDKVSQQGMDVALQKVENNINKMITTLFDTMRIEELNRYRDTLRRAILVMNPATAKSFITEVVETNLVAFDCHWIIINEEINDVDVQELVRRSIGRLTIIRQTFPVPQNISQRCFRGNHRISSTLCDPKDPFAQNM... | null | null | cerebellar granule cell differentiation [GO:0021707]; excitatory postsynaptic potential [GO:0060079]; excitatory synapse assembly [GO:1904861]; glutamate receptor signaling pathway [GO:0007215]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; modulation of chemical synaptic tra... | dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; ionotropic glutamate receptor complex [GO:0008328]; parallel fiber to Purkinje cell synapse [GO:0098688]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; synapse [GO:0045202] | glutamate receptor activity [GO:0008066]; identical protein binding [GO:0042802]; PDZ domain binding [GO:0030165]; scaffold protein binding [GO:0097110]; transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315] | PF01094;PF00060;PF10613; | 1.10.287.70;3.40.50.2300;3.40.190.10; | Glutamate-gated ion channel (TC 1.A.10.1) family, GRID2 subfamily | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Postsynaptic cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. | null | null | null | null | null | FUNCTION: Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. Promotes synaptogenesis and mediates the D-Serine-dependent lo... | Homo sapiens (Human) |
O43426 | SYNJ1_HUMAN | MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLK... | 3.1.3.36 | null | inositol phosphate metabolic process [GO:0043647]; learning [GO:0007612]; membrane organization [GO:0061024]; neurotransmitter transport [GO:0006836]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; phosphatidylinositol metabolic process [GO:0046488]; positiv... | clathrin coat of coated pit [GO:0030132]; cytosol [GO:0005829]; membrane coat [GO:0030117]; perinuclear region of cytoplasm [GO:0048471]; presynapse [GO:0098793]; synaptic membrane [GO:0097060]; terminal bouton [GO:0043195]; vesicle membrane [GO:0012506] | inositol-1,4,5-trisphosphate 5-phosphatase activity [GO:0052658]; phosphatidylinositol phosphate 4-phosphatase activity [GO:0034596]; phosphatidylinositol phosphate 5-phosphatase activity [GO:0034595]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3,5-bisphosphate 5-pho... | PF08952;PF02383; | 3.30.70.330;3.60.10.10; | Synaptojanin family; Inositol 1,4,5-trisphosphate 5-phosphatase family | null | SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:O18964}. | CATALYTIC ACTIVITY: Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate; Xref=Rhea:RHEA:22764, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58178, ChEBI:CHEBI:58456; EC=3.1.3.36; Evidence={ECO:0000269|PubM... | null | null | null | null | FUNCTION: Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:23804563, PubMed:27435091). Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin... | Homo sapiens (Human) |
O43427 | FIBP_HUMAN | MTSELDIFVGNTTLIDEDVYRLWLDGYSVTDAVALRVRSGILEQTGATAAVLQSDTMDHYRTFHMLERLLHAPPKLLHQLIFQIPPSRQALLIERYYAFDEAFVREVLGKKLSKGTKKDLDDISTKTGITLKSCRRQFDNFKRVFKVVEEMRGSLVDNIQQHFLLSDRLARDYAAIVFFANNRFETGKKKLQYLSFGDFAFCAELMIQNWTLGAVGEAPTDPDSQMDDMDMDLDKEFLQDLKELKVLVADKDLLDLHKSLVCTALRGKLGVFSEMEANFKNLSRGLVNVAAKLTHNKDVRDLFVDLVEKFVEPCRSDHWP... | null | null | fibroblast growth factor receptor signaling pathway [GO:0008543]; platelet aggregation [GO:0070527] | endomembrane system [GO:0012505]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleus [GO:0005634] | fibroblast growth factor binding [GO:0017134] | PF05427; | null | null | null | SUBCELLULAR LOCATION: Nucleus. Endomembrane system; Peripheral membrane protein. Note=Also associated with cytoplasmic membranes, particularly of mitochondria. | null | null | null | null | null | FUNCTION: May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo (By similarity). {ECO:0000250|UniProtKB:Q6T938, ECO:0000269|PubMed:9806903}. | Homo sapiens (Human) |
O43432 | IF4G3_HUMAN | MNSQPQTRSPFFQRPQIQPPRATIPNSSPSIRPGAQTPTAVYQANQHIMMVNHLPMPYPVPQGPQYCIPQYRHSGPPYVGPPQQYPVQPPGPGPFYPGPGPGDFPNAYGTPFYPSQPVYQSAPIIVPTQQQPPPAKREKKTIRIRDPNQGGKDITEEIMSGGGSRNPTPPIGRPTSTPTPPQQLPSQVPEHSPVVYGTVESAHLAASTPVTAASDQKQEEKPKPDPVLKSPSPVLRLVLSGEKKEQEGQTSETTAIVSIAELPLPPSPTTVSSVARSTIAAPTSSALSSQPIFTTAIDDRCELSSPREDTIPIPSLTSCT... | null | null | positive regulation of translation [GO:0045727]; regulation of translational initiation [GO:0006446]; spermatid development [GO:0007286]; translational initiation [GO:0006413] | cytosol [GO:0005829]; eukaryotic translation initiation factor 4F complex [GO:0016281]; intracellular non-membrane-bounded organelle [GO:0043232] | mRNA binding [GO:0003729]; RNA binding [GO:0003723]; RNA cap binding [GO:0000339]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743] | PF02847;PF02854;PF02020; | 1.25.40.180; | Eukaryotic initiation factor 4G family | PTM: Following infection by certain enteroviruses, rhinoviruses and aphthoviruses, EIF4G1 is cleaved by the viral protease 2A, or the leader protease in the case of aphthoviruses. This shuts down the capped cellular mRNA transcription. {ECO:0000269|PubMed:12663812, ECO:0000269|PubMed:15016848}. | null | null | null | null | null | null | FUNCTION: Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome (PubMed:9418880). Functional homolog of EIF4G1 (PubMed:9418880). {ECO:0000269|PubMed:9418880}. | Homo sapiens (Human) |
O43435 | TBX1_HUMAN | MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFAR... | null | null | angiogenesis [GO:0001525]; anterior/posterior pattern specification [GO:0009952]; aorta morphogenesis [GO:0035909]; artery morphogenesis [GO:0048844]; blood vessel development [GO:0001568]; blood vessel morphogenesis [GO:0048514]; cell fate specification [GO:0001708]; cell population proliferation [GO:0008283]; cellula... | chromatin [GO:0000785]; nucleus [GO:0005634] | DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; RNA polymerase II cis-regulatory region sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:... | PF00907; | 2.60.40.820; | null | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}. | null | null | null | null | null | FUNCTION: Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by pr... | Homo sapiens (Human) |
O43439 | MTG8R_HUMAN | MAKESGISLKEIQVLARQWKVGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDR... | null | null | DNA-templated transcription [GO:0006351]; intestinal epithelial cell differentiation [GO:0060575]; negative regulation of DNA-templated transcription [GO:0045892]; negative regulation of neuron projection development [GO:0010977]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of trans... | nucleoplasm [GO:0005654]; nucleus [GO:0005634] | metal ion binding [GO:0046872]; transcription corepressor activity [GO:0003714] | PF08788;PF07531;PF01753; | 6.10.140.2220;6.10.250.230;1.20.120.1110; | CBFA2T family | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. | null | null | null | null | null | FUNCTION: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Via association with PRDM14 is involved in regulation of embryonic stem ce... | Homo sapiens (Human) |
O43447 | PPIH_HUMAN | MAVANSSPVNPVVFFDVSIGGQEVGRMKIELFADVVPKTAENFRQFCTGEFRKDGVPIGYKGSTFHRVIKDFMIQGGDFVNGDGTGVASIYRGPFADENFKLRHSAPGLLSMANSGPSTNGCQFFITCSKCDWLDGKHVVFGKIIDGLLVMRKIENVPTGPNNKPKLPVVISQCGEM | 5.2.1.8 | null | mRNA splicing, via spliceosome [GO:0000398]; positive regulation of viral genome replication [GO:0045070]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]; protein-containing complex assembly [GO:0065003] | cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; spliceosomal complex [GO:0005681]; U4/U6 snRNP [GO:0071001]; U4/U6 x U5 tri-snRNP complex [GO:0046540] | cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; ribonucleoprotein complex binding [GO:0043021] | PF00160; | 2.40.100.10; | Cyclophilin-type PPIase family, PPIase H subfamily | null | SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:9570313}. Cytoplasm {ECO:0000269|PubMed:9570313}. Note=Colocalizes with spliceosomal snRNPs. A small proportion may also be cytoplasmic. | CATALYTIC ACTIVITY: Reaction=[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA-COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Evidence={ECO:0000269|PubMed:20676357}; | null | null | null | null | FUNCTION: PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. Ma... | Homo sapiens (Human) |
O43448 | KCAB3_HUMAN | MQVSIACTEQNLRSRSSEDRLCGPRPGPGGGNGGPAGGGHGNPPGGGGSGPKARAALVPRPPAPAGALRESTGRGTGMKYRNLGKSGLRVSCLGLGTWVTFGSQISDETAEDVLTVAYEHGVNLFDTAEVYAAGKAERTLGNILKSKGWRRSSYVITTKIFWGGQAETERGLSRKHIIEGLRGSLERLQLGYVDIVFANRSDPNCPMEEIVRAMTYVINQGLALYWGTSRWGAAEIMEAYSMARQFNLIPPVCEQAEHHLFQREKVEMQLPELYHKIGVGSVTWYPLACGLITSKYDGRVPDTCRASIKGYQWLKDKVQS... | 1.1.1.- | null | potassium ion transport [GO:0006813]; regulation of potassium ion transmembrane transport [GO:1901379] | cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076] | aldo-keto reductase (NADP) activity [GO:0004033]; potassium channel regulator activity [GO:0015459]; transmembrane transporter binding [GO:0044325]; voltage-gated potassium channel activity [GO:0005249] | PF00248; | 3.20.20.100; | Shaker potassium channel beta subunit family | null | SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. | null | null | null | null | null | FUNCTION: Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters the functional properties of Kv1.5. {ECO:0000269|PubMed:9857044}. | Homo sapiens (Human) |
O43451 | MGA_HUMAN | MARKKLKKFTTLEIVLSVLLLVLFIISIVLIVLLAKESLKSTAPDPGTTGTPDPGTTGTPDPGTTGTTHARTTGPPDPGTTGTTPVSAECPVVNELERINCIPDQPPTKATCDQRGCCWNPQGAVSVPWCYYSKNHSYHVEGNLVNTNAGFTARLKNLPSSPVFGSNVDNVLLTAEYQTSNRFHFKLTDQTNNRFEVPHEHVQSFSGNAAASLTYQVEISRQPFSIKVTRRSNNRVLFDSSIGPLLFADQFLQLSTRLPSTNVYGLGEHVHQQYRHDMNWKTWPIFNRDTTPNGNGTNLYGAQTFFLCLEDASGLSFGVF... | 3.2.1.20 | null | dextrin catabolic process [GO:1901027]; maltose catabolic process [GO:0000025]; starch catabolic process [GO:0005983] | apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821] | alpha-1,4-glucosidase activity [GO:0004558]; amylase activity [GO:0016160]; carbohydrate binding [GO:0030246]; catalytic activity [GO:0003824]; glucan 1,4-alpha-glucosidase activity [GO:0004339]; maltose alpha-glucosidase activity [GO:0032450] | PF13802;PF01055;PF21365;PF00088; | 3.20.20.80;2.60.40.1760;2.60.40.1180;4.10.110.10; | Glycosyl hydrolase 31 family | PTM: N- and O-glycosylated. {ECO:0000269|PubMed:18036614, ECO:0000269|PubMed:3143729}.; PTM: Does not undergo intracellular or extracellular proteolytic cleavage. {ECO:0000269|PubMed:3143729}.; PTM: Sulfated. {ECO:0000250}. | SUBCELLULAR LOCATION: Apical cell membrane; Single-pass type II membrane protein. Note=Brush border. {ECO:0000269|PubMed:3143729}. | CATALYTIC ACTIVITY: Reaction=Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.; EC=3.2.1.20; Evidence={ECO:0000269|PubMed:12547908, ECO:0000269|PubMed:18036614, ECO:0000269|PubMed:18356321, ECO:0000269|PubMed:22058037, ECO:0000269|PubMed:27480812}; CATALYTIC AC... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=2.27 mM for maltoheptaose (with ctMGAM) {ECO:0000269|PubMed:22058037}; KM=1.05 mM for maltohexaose (with ctMGAM) {ECO:0000269|PubMed:22058037}; KM=0.61 mM for maltopentaose (with ctMGAM) {ECO:0000269|PubMed:22058037}; KM=0.96 mM for maltotetraose (with ctMGAM) {ECO... | PATHWAY: Carbohydrate degradation. {ECO:0000305|PubMed:18036614, ECO:0000305|PubMed:22058037, ECO:0000305|PubMed:27480812}. | BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 7. Has substantial activity at acidic pH. {ECO:0000269|PubMed:18356321}; | null | FUNCTION: Alpha-(1,4) exo-glucosidase involved in breakdown of dietary starch oligosaccharides in small intestine. Cleaves the non-reducing alpha-(1,4)-linked glucose residue in linear dextrins with retention of anomeric center stereochemistry (PubMed:12547908, PubMed:18036614, PubMed:18356321, PubMed:22058037, PubMed:... | Homo sapiens (Human) |
O43462 | MBTP2_HUMAN | MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALVLLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTIAYEPQIGYCISASTLQQLSF... | 3.4.24.85 | COFACTOR: Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000269|PubMed:10805775}; Note=Binds 1 zinc ion per subunit. {ECO:0000269|PubMed:10805775}; | ATF6-mediated unfolded protein response [GO:0036500]; bone maturation [GO:0070977]; cholesterol metabolic process [GO:0008203]; endoplasmic reticulum unfolded protein response [GO:0030968]; membrane protein intracellular domain proteolysis [GO:0031293]; mitotic G2 DNA damage checkpoint signaling [GO:0007095]; positive ... | cytoplasm [GO:0005737]; Golgi membrane [GO:0000139]; membrane [GO:0016020] | metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; transcription regulator activator activity [GO:0140537] | PF02163; | 2.30.42.10; | Peptidase M50A family | null | SUBCELLULAR LOCATION: Membrane {ECO:0000305|PubMed:19361614}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:19361614}. Golgi apparatus membrane {ECO:0000305|PubMed:16417584}; Multi-pass membrane protein {ECO:0000255}. | CATALYTIC ACTIVITY: Reaction=Cleaves several transcription factors that are type-2 transmembrane proteins within membrane-spanning domains. Known substrates include sterol regulatory element-binding protein (SREBP) -1, SREBP-2 and forms of the transcriptional activator ATF6. SREBP-2 is cleaved at the site 477-DRSRILL-|... | null | null | null | null | FUNCTION: Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:10805775, PubMed:11163209). Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: ... | Homo sapiens (Human) |
O43463 | SUV91_HUMAN | MAENLKGCSVCCKSSWNQLQDLCRLAKLSCPALGISKRNLYDFEVEYLCDYKKIREQEYYLVKWRGYPDSESTWEPRQNLKCVRILKQFHKDLERELLRRHHRSKTPRHLDPSLANYLVQKAKQRRALRRWEQELNAKRSHLGRITVENEVDLDGPPRAFVYINEYRVGEGITLNQVAVGCECQDCLWAPTGGCCPGASLHKFAYNDQGQVRLRAGLPIYECNSRCRCGYDCPNRVVQKGIRYDLCIFRTDDGRGWGVRTLEKIRKNSFVMEYVGEIITSEEAERRGQIYDRQGATYLFDLDYVEDVYTVDAAYYGNISH... | 2.1.1.355 | null | cell cycle [GO:0007049]; cell differentiation [GO:0030154]; cellular response to glucose starvation [GO:0042149]; cellular response to hypoxia [GO:0071456]; chromatin organization [GO:0006325]; circadian rhythm [GO:0007623]; DNA damage response [GO:0006974]; energy homeostasis [GO:0097009]; epigenetic programming in th... | chromatin silencing complex [GO:0005677]; chromosome, centromeric region [GO:0000775]; condensed nuclear chromosome [GO:0000794]; cytoplasmic vesicle [GO:0031410]; eNoSc complex [GO:0061773]; heterochromatin [GO:0000792]; nuclear lamina [GO:0005652]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634... | chromatin binding [GO:0003682]; histone H3 methyltransferase activity [GO:0140938]; histone H3K9 methyltransferase activity [GO:0046974]; histone H3K9 trimethyltransferase activity [GO:0140949]; histone methyltransferase activity [GO:0042054]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; tran... | PF00385;PF05033;PF00856; | 2.40.50.40;2.170.270.10; | Class V-like SAM-binding methyltransferase superfamily, Histone-lysine methyltransferase family, Suvar3-9 subfamily | PTM: Phosphorylated on serine residues, and to a lesser degree, on threonine residues. The phosphorylated form is stabilized by SBF1 and is less active in its transcriptional repressor function. {ECO:0000269|PubMed:10671371}.; PTM: Ubiquitinated by the DCX(DCAF13) E3 ubiquitin ligase complex, leading to its degradation... | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29170282, ECO:0000269|PubMed:30111536}. Nucleus lamina. Nucleus, nucleoplasm. Chromosome, centromere. Note=Associates with centromeric constitutive heterochromatin.; SUBCELLULAR LOCATION: Cytoplasmic vesicle, phagosome lumen {ECO:0000269|PubMed:29170282}. Cell membrane ... | CATALYTIC ACTIVITY: Reaction=L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60276, Rhea:RHEA-COMP:15538, Rhea:RHEA-COMP:15546, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:... | null | null | null | null | FUNCTION: Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) p... | Homo sapiens (Human) |
O43464 | HTRA2_HUMAN | MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAAIDFGNSGGPLVNLDGEVIGV... | 3.4.21.108 | null | adult walking behavior [GO:0007628]; cellular response to growth factor stimulus [GO:0071363]; cellular response to heat [GO:0034605]; cellular response to interferon-beta [GO:0035458]; cellular response to oxidative stress [GO:0034599]; cellular response to retinoic acid [GO:0071300]; ceramide metabolic process [GO:00... | CD40 receptor complex [GO:0035631]; chromatin [GO:0000785]; cytoplasmic side of plasma membrane [GO:0009898]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; mitochondrial intermembrane space [GO:0005758]; mitochond... | identical protein binding [GO:0042802]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; unfolded protein binding [GO:0051082] | PF17820;PF13365; | 2.30.42.10;2.40.10.120; | Peptidase S1C family | PTM: Autoproteolytically activated. {ECO:0000269|PubMed:10873535}. | SUBCELLULAR LOCATION: Mitochondrion intermembrane space. Mitochondrion membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Note=Predominantly present in the intermembrane space. Released into the cytosol following apoptotic stimuli, such as UV treatment, and stimulation of mitochondria with caspase-8 tr... | CATALYTIC ACTIVITY: Reaction=Cleavage of non-polar aliphatic amino-acids at the P1 position, with a preference for Val, Ile and Met. At the P2 and P3 positions, Arg is selected most strongly with a secondary preference for other hydrophilic residues.; EC=3.4.21.108; | null | null | null | null | FUNCTION: Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-inde... | Homo sapiens (Human) |
O43474 | KLF4_HUMAN | MRQPPGESDMAVSDALLPSFSTFASGPAGREKTLRQAGAPNNRWREELSHMKRLPPVLPGRPYDLAAATVATDLESGGAGAACGGSNLAPLPRRETEEFNDLLDLDFILSNSLTHPPESVAATVSSSASASSSSSPSSSGPASAPSTCSFTYPIRAGNDPGVAPGGTGGGLLYGRESAPPPTAPFNLADINDVSPSGGFVAELLRPELDPVYIPPQQPQPPGGGLMGKFVLKASLSAPGSEYGSPSVISVSKGSPDGSHPVVVAPYNGGPPRTCPKIKQEAVSSCTHLGAGPPLSNGHRPAAHDFPLGRQLPSRTTPTLG... | null | null | canonical Wnt signaling pathway [GO:0060070]; cellular response to cycloheximide [GO:0071409]; cellular response to growth factor stimulus [GO:0071363]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to laminar fluid shear stress [GO:0071499]; cellular response to leukemia inhibitory factor [GO:... | chromatin [GO:0000785]; cytosol [GO:0005829]; euchromatin [GO:0000791]; microtubule cytoskeleton [GO:0015630]; nucleoplasm [GO:0005654]; transcription regulator complex [GO:0005667] | beta-catenin binding [GO:0008013]; chromatin DNA binding [GO:0031490]; 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]; histone deacetylase bi... | PF00096; | 3.30.160.60; | Krueppel C2H2-type zinc-finger protein family | PTM: Ubiquitinated. 'Lys-48'-linked ubiquitinated and targeted for proteasomal degradation by the SCF(BTRC) E3 ubiquitin-protein ligase complex, thereby negatively regulating cell pluripotency maintenance and embryogenesis. {ECO:0000250|UniProtKB:Q60793}.; PTM: Polyglutamylated by TTLL1 and TTLL4 at Glu-411, which inhi... | SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q60793}. Cytoplasm {ECO:0000250|UniProtKB:Q60793}. | null | null | null | null | null | FUNCTION: Transcription factor; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining... | Homo sapiens (Human) |
O43482 | MS18B_HUMAN | MAAQPLRHRSRCATPPRGDFCGGTERAIDQASFTTSMEWDTQVVKGSSPLGPAGLGAEEPAAGPQLPSWLQPERCAVFQCAQCHAVLADSVHLAWDLSRSLGAVVFSRVTNNVVLEAPFLVGIEGSLKGSTYNLLFCGSCGIPVGFHLYSTHAALAALRGHFCLSSDKMVCYLLKTKAIVNASEMDIQNVPLSEKIAELKEKIVLTHNRLKSLMKILSEVTPDQSKPEN | null | null | cell communication [GO:0007154]; cell division [GO:0051301]; CENP-A containing chromatin assembly [GO:0034080]; chromosome segregation [GO:0007059] | Cajal body [GO:0015030]; chromatin [GO:0000785]; chromocenter [GO:0010369]; chromosome, centromeric region [GO:0000775]; intracellular membrane-bounded organelle [GO:0043231]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634] | identical protein binding [GO:0042802]; metal ion binding [GO:0046872] | PF03226; | null | Mis18 family | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17199038}. Chromosome {ECO:0000269|PubMed:17199038}. Chromosome, centromere {ECO:0000269|PubMed:17199038}. Note=Associated with centromeres in interphase cells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis. Associated ... | null | null | null | null | null | FUNCTION: Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. {ECO:0000269|PubMed:17199038}. | Homo sapiens (Human) |
O43488 | ARK72_HUMAN | MLSAASRVVSRAAVHCALRSPPPEARALAMSRPPPPRVASVLGTMEMGRRMDAPASAAAVRAFLERGHTELDTAFMYSDGQSETILGGLGLGLGGGDCRVKIATKANPWDGKSLKPDSVRSQLETSLKRLQCPQVDLFYLHAPDHGTPVEETLHACQRLHQEGKFVELGLSNYASWEVAEICTLCKSNGWILPTVYQGMYNATTRQVETELFPCLRHFGLRFYAYNPLAGGLLTGKYKYEDKDGKQPVGRFFGNSWAETYRNRFWKEHHFEAIALVEKALQAAYGASAPSVTSAALRWMYHHSQLQGAHGDAVILGMSSL... | 1.1.1.n11 | null | carbohydrate metabolic process [GO:0005975]; cellular aldehyde metabolic process [GO:0006081]; daunorubicin metabolic process [GO:0044597]; doxorubicin metabolic process [GO:0044598]; lipid metabolic process [GO:0006629] | cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739] | alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; aldo-keto reductase (NADP) activity [GO:0004033]; electron transfer activity [GO:0009055]; phenanthrene-9,10-epoxide hydrolase activity [GO:0019119] | PF00248; | 3.20.20.100; | Aldo/keto reductase family, Aldo/keto reductase 2 subfamily | null | SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255}. Golgi apparatus {ECO:0000250|UniProtKB:Q8CG45}. Cytoplasm {ECO:0000269|PubMed:9576847}. | CATALYTIC ACTIVITY: Reaction=4-hydroxybutanoate + NADP(+) = H(+) + NADPH + succinate semialdehyde; Xref=Rhea:RHEA:26381, ChEBI:CHEBI:15378, ChEBI:CHEBI:16724, ChEBI:CHEBI:57706, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.n11; Evidence={ECO:0000269|PubMed:10510318}; | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=20 uM for succinic semialdehyde {ECO:0000269|PubMed:10510318}; KM=17 uM for 2-carboxybenzaldehyde {ECO:0000269|PubMed:10510318}; KM=8 uM for 9,10-phenanthrenequinone {ECO:0000269|PubMed:10510318}; KM=102 uM for 1,2-naphthoquinone {ECO:0000269|PubMed:10510318}; | null | null | null | FUNCTION: Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2-nitrobenzaldehyde... | Homo sapiens (Human) |
O43490 | PROM1_HUMAN | MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKPETVILGLKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIR... | null | null | camera-type eye photoreceptor cell differentiation [GO:0060219]; glomerular parietal epithelial cell differentiation [GO:0072139]; photoreceptor cell maintenance [GO:0045494]; podocyte differentiation [GO:0072112]; positive regulation of nephron tubule epithelial cell differentiation [GO:2000768]; retina layer formatio... | apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; cilium [GO:0005929]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; microvillus [GO:0005902]; microvillus membrane [GO:0031528]; p... | actinin binding [GO:0042805]; cadherin binding [GO:0045296]; cholesterol binding [GO:0015485] | PF05478; | null | Prominin family | PTM: Isoform 1 and isoform 2 are glycosylated. {ECO:0000269|PubMed:12042327}.; PTM: Acetylation at Lys-225, Lys-257 and Lys-264 by NAT8 and NAT8B may control PROM1 protein expression and its function in cell apoptosis. {ECO:0000269|PubMed:24556617}. | SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell projection, microvillus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Endoplasmic reticulum. Endoplasmic reticulum-Golgi inte... | null | null | null | null | null | FUNCTION: May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator o... | Homo sapiens (Human) |
O43491 | E41L2_HUMAN | MTTEVGSVSEVKKDSSQLGTDATKEKPKEVAENQQNQSSDPEEEKGSQPPPAAESQSSLRRQKREKETSESRGISRFIPPWLKKQKSYTLVVAKDGGDKKEPTQAVVEEQVLDKEEPLPEEQRQAKGDAEEMAQKKQEIKVEVKEEKPSVSKEEKPSVSKVEMQPTELVSKEREEKVKETQEDKLEGGAAKRETKEVQTNELKAEKASQKVTKKTKTVQCKVTLLDGTEYSCDLEKHAKGQVLFDKVCEHLNLLEKDYFGLLFQESPEQKNWLDPAKEIKRQLRNLPWLFTFNVKFYPPDPSQLTEDITRYFLCLQLRQD... | null | null | actomyosin structure organization [GO:0031032]; cell cycle [GO:0007049]; cell division [GO:0051301]; cortical actin cytoskeleton organization [GO:0030866]; positive regulation of protein localization to cell cortex [GO:1904778] | cell cortex [GO:0005938]; cell junction [GO:0030054]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; spectrin [GO:0008091] | actin binding [GO:0003779]; PH domain binding [GO:0042731]; spectrin binding [GO:0030507]; structural molecule activity [GO:0005198] | PF05902;PF08736;PF09380;PF00373;PF09379;PF04382; | 1.20.80.10;2.30.29.30; | null | null | SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cell cortex {ECO:0000269|PubMed:23870127}. Cell membrane {ECO:0000269|PubMed:22361696}. | null | null | null | null | null | FUNCTION: Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127). {ECO:0000269|PubMed:23870127}. | Homo sapiens (Human) |
O43493 | TGON2_HUMAN | MRFVVALVLLNVAAAGAVPLLATESVKQEEAGVRPSAGNVSTHPSLSQRPGGSTKSHPEPQTPKDSPSKSSAEAQTPEDTPNKSGAEAKTQKDSSNKSGAEAKTQKGSTSKSGSEAQTTKDSTSKSHPELQTPKDSTGKSGAEAQTPEDSPNRSGAEAKTQKDSPSKSGSEAQTTKDVPNKSGADGQTPKDGSSKSGAEDQTPKDVPNKSGAEKQTPKDGSNKSGAEEQGPIDGPSKSGAEEQTSKDSPNKVVPEQPSRKDHSKPISNPSDNKELPKADTNQLADKGKLSPHAFKTESGEETDLISPPQEEVKSSEPTED... | null | null | null | clathrin-coated endocytic vesicle membrane [GO:0030669]; endoplasmic reticulum lumen [GO:0005788]; endosome [GO:0005768]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; trans-Golgi network transport vesicle [GO:0030140]; transport vesicle [GO:0030... | null | PF17818; | null | null | null | SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Note=Primarily in trans-Golgi network. Cycles between the trans-Golgi network and the cell surface returning via endosomes. | null | null | null | null | null | FUNCTION: May be involved in regulating membrane traffic to and from trans-Golgi network. | Homo sapiens (Human) |
O43497 | CAC1G_HUMAN | MDEEEDGAGAEESGQPRSFMRLNDLSGAGGRPGPGSAEKDPGSADSEAEGLPYPALAPVVFFYLSQDSRPRSWCLRTVCNPWFERISMLVILLNCVTLGMFRPCEDIACDSQRCRILQAFDDFIFAFFAVEMVVKMVALGIFGKKCYLGDTWNRLDFFIVIAGMLEYSLDLQNVSFSAVRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLPENFSLPLSVDLERYYQTENEDESPFICSQPRENGMRSCRSVPTLRGDGGGGPPCGLDYEAYNSSSNTTCVNWNQYY... | null | null | AV node cell action potential [GO:0086016]; AV node cell to bundle of His cell signaling [GO:0086027]; calcium ion import [GO:0070509]; calcium ion import across plasma membrane [GO:0098703]; calcium ion transmembrane transport [GO:0070588]; cardiac muscle cell action potential involved in contraction [GO:0086002]; che... | cytoplasm [GO:0005737]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; synapse [GO:0045202]; voltage-gated calcium channel complex [GO:0005891]; voltage-gated sodium channel complex [GO:0001518] | high voltage-gated calcium channel activity [GO:0008331]; low voltage-gated calcium channel activity [GO:0008332]; scaffold protein binding [GO:0097110]; voltage-gated calcium channel activity involved in AV node cell action potential [GO:0086056]; voltage-gated calcium channel activity involved SA node cell action pot... | PF00520; | 1.10.287.70;1.20.120.350; | Calcium channel alpha-1 subunit (TC 1.A.1.11) family, CACNA1G subfamily | PTM: In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26715324}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:26715324}. | null | null | null | null | null | FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha... | Homo sapiens (Human) |
O43502 | RA51C_HUMAN | MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALGESWGHAATIRLIFHWDRK... | null | null | DNA recombination [GO:0006310]; DNA repair [GO:0006281]; double-strand break repair via homologous recombination [GO:0000724]; female meiosis sister chromatid cohesion [GO:0007066]; male meiosis I [GO:0007141]; meiotic DNA recombinase assembly [GO:0000707]; positive regulation of G2/M transition of mitotic cell cycle [... | cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; Rad51B-Rad51C-Rad51D-XRCC2 complex [GO:0033063]; Rad51C-XRCC3 complex... | ATP binding [GO:0005524]; ATP-dependent DNA damage sensor activity [GO:0140664]; crossover junction DNA endonuclease activity [GO:0008821]; DNA binding [GO:0003677]; four-way junction DNA binding [GO:0000400] | PF08423; | 1.10.150.20;3.40.50.300; | RecA family, RAD51 subfamily | null | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12966089, ECO:0000269|PubMed:16215984}. Cytoplasm {ECO:0000269|PubMed:16215984}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:16215984}. Mitochondrion {ECO:0000269|PubMed:20413593}. Note=DNA damage induces an increase in nuclear levels. Accumulates in DNA damage in... | null | null | null | null | null | FUNCTION: Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD51 paralog protein complexes BCDX2 and CX3 which act at different ... | Homo sapiens (Human) |
O43504 | LTOR5_HUMAN | MEATLEQHLEDTMKNPSIVGVLCTDSQGLNLGCRGTLSDEHAGVISVLAQQAAKLTSDPTDIPVVCLESDNGNIMIQKHDGITVAVHKMAS | null | null | cellular response to amino acid stimulus [GO:0071230]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; positive regulation of canonical NF-kappaB signal transduction [GO:0043123]; positive regulation of gene expression [GO:0010628]; positive regulation of interleu... | cytosol [GO:0005829]; FNIP-folliculin RagC/D GAP [GO:1990877]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; protein-containing complex [GO:0032991]; Ragulator complex [GO:0071986] | guanyl-nucleotide exchange factor activity [GO:0005085] | PF16672; | 3.30.450.30; | LAMTOR5 family | null | SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:22980980}. Cytoplasm, cytosol {ECO:0000269|PubMed:12773388}. | null | null | null | null | null | FUNCTION: As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:22980980, PubMed:29158492, PubMed:30181260). Activated by amino acids through a mechanism involving th... | Homo sapiens (Human) |
O43505 | B4GA1_HUMAN | MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVKAQLRTALASGGVLDASGDYRVYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCPSRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGLREMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTNYSRWVNLPEESLLRPAYVVP... | 2.4.1.- | COFACTOR: Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000269|PubMed:25279699}; | axon guidance [GO:0007411]; keratan sulfate biosynthetic process [GO:0018146]; protein O-linked mannosylation [GO:0035269] | extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139] | glucuronosyltransferase activity [GO:0015020]; metal ion binding [GO:0046872]; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity [GO:0008532] | PF13896; | null | Glycosyltransferase 49 family | null | SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:19587235, ECO:0000269|PubMed:23359570, ECO:0000269|PubMed:25279699}; Single-pass type II membrane protein {ECO:0000269|PubMed:23359570}. Note=Localizes near the trans-Golgi apparatus. {ECO:0000269|PubMed:25279699}. | CATALYTIC ACTIVITY: Reaction=3-O-[beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + UDP-alpha-D-glucuronate = 3-O-[beta-D-GlcA-(1->3)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + H(... | null | PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:25279697, ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:9405606}. | BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 7.0. {ECO:0000269|PubMed:25279699}; | null | FUNCTION: Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1) (PubMed:19587235, PubMed:23359570, PubMed:25279697, PubMed:25279699). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is fur... | Homo sapiens (Human) |
O43506 | ADA20_HUMAN | MAVGEPLVHIRVTLLLLWFGMFLSISGHSQARPSQYFTSPEVVIPLKVISRGRGAKAPGWLSYSLRFGGQRYIVHMRVNKLLFAAHLPVFTYTEQHALLQDQPFIQDDCYYHGYVEGVPESLVALSTCSGGFLGMLQINDLVYEIKPISVSATFEHLVYKIDSDDTQFPPMRCGLTEEKIAHQMELQLSYNFTLKQSSFVGWWTHQRFVELVVVVDNIRYLFSQSNATTVQHEVFNVVNIVDSFYHPLEVDVILTGIDIWTASNPLPTSGDLDNVLEDFSIWKNYNLNNRLQHDVAHLFIKDTQGMKLGVAYVKGICQNP... | 3.4.24.- | COFACTOR: Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000305}; Note=Binds 1 zinc ion per subunit. {ECO:0000305}; | male gonad development [GO:0008584]; proteolysis [GO:0006508]; single fertilization [GO:0007338] | external side of plasma membrane [GO:0009897]; plasma membrane [GO:0005886]; sperm head plasma membrane [GO:1990913] | metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237] | PF08516;PF00200;PF01562;PF01421; | 3.40.390.10;4.10.70.10; | null | PTM: Has no obvious cleavage site for furin endopeptidase, suggesting that the proteolytic processing is regulated. | SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. | null | null | null | null | null | FUNCTION: May be involved in sperm maturation and/or fertilization. | Homo sapiens (Human) |
O43508 | TNF12_HUMAN | MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQEPAQEELVAEEDQDPSELNPQTEESQDPAPFLNRLVRPRRSAPKGRKTRARRAIAAHYEVHPRPGQDGAQAGVDGTVSGWEEARINSSSPLRYNRQIGEFIVTRAGLYYLYCQVHFDEGKAVYLKLDLLVDGVLALRCLEEFSATAASSLGPQLRLCQVSGLLALRPGSSLRIRTLPWAHLKAAPFLTYFGLFQVH | null | null | angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; endothelial cell migration [GO:0043542]; extrinsic apoptotic signaling pathway [GO:0097191]; immune response [GO:0006955]; positive regulation of angiogenesis [GO:0045766]; positive regulation of endothelial cell proliferation... | extracellular region [GO:0005576]; extracellular space [GO:0005615]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886] | cytokine activity [GO:0005125]; receptor ligand activity [GO:0048018]; signaling receptor binding [GO:0005102]; tumor necrosis factor receptor binding [GO:0005164] | PF00229; | 2.60.120.40; | Tumor necrosis factor family | PTM: The soluble form derives from the membrane form by proteolytic processing. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12411489}; Single-pass type II membrane protein {ECO:0000269|PubMed:12411489}.; SUBCELLULAR LOCATION: [Tumor necrosis factor ligand superfamily member 12, secreted form]: Secreted.; SUBCELLULAR LOCATION: [Isoform TWE-PRIL]: Cell membrane; Single-pass membrane prot... | null | null | null | null | null | FUNCTION: Binds to FN14 and possibly also to TNRFSF12/APO3. Weak inducer of apoptosis in some cell types. Mediates NF-kappa-B activation. Promotes angiogenesis and the proliferation of endothelial cells. Also involved in induction of inflammatory cytokines. Promotes IL8 secretion. {ECO:0000269|PubMed:10085077, ECO:0000... | Homo sapiens (Human) |
O43511 | S26A4_HUMAN | MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPIPIEVIVTIIATAISYGANLE... | null | null | inorganic anion transport [GO:0015698]; iodide transport [GO:0015705]; monoatomic ion transport [GO:0006811]; regulation of pH [GO:0006885]; regulation of protein localization [GO:0032880]; sensory perception of sound [GO:0007605]; sulfate transport [GO:0008272] | apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; plasma membrane [GO:0005886] | bicarbonate transmembrane transporter activity [GO:0015106]; chloride transmembrane transporter activity [GO:0015108]; chloride:bicarbonate antiporter activity [GO:0140900]; iodide transmembrane transporter activity [GO:0015111]; oxalate transmembrane transporter activity [GO:0019531]; secondary active sulfate transmem... | PF01740;PF00916; | 3.30.750.24; | SLC26A/SulP transporter (TC 2.A.53) family | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11932316, ECO:0000269|PubMed:24051746}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000269|PubMed:11274445, ECO:0000269|PubMed:35601831}; Multi-pass membrane protein {ECO:0000255}. | CATALYTIC ACTIVITY: Reaction=chloride(in) = chloride(out); Xref=Rhea:RHEA:29823, ChEBI:CHEBI:17996; Evidence={ECO:0000269|PubMed:10192399, ECO:0000269|PubMed:24051746}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:29825; Evidence={ECO:0000305|PubMed:10192399}; CATALYTIC ACTIVITY: Reaction=iodide(out) = iodide(i... | null | null | null | null | FUNCTION: Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:11932316, PubMed:12107249, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 stoichiometry (PubMed:10644529, PubMed:15155570, PubMed:24051746, Pu... | Homo sapiens (Human) |
O43513 | MED7_HUMAN | MGEPQQVSALPPPPMQYIKEYTDENIQEGLAPKPPPPIKDSYMMFGNQFQCDDLIIRPLESQGIERLHPMQFDHKKELRKLNMSILINFLDLLDILIRSPGSIKREEKLEDLKLLFVHVHHLINEYRPHQARETLRVMMEVQKRQRLETAERFQKHLERVIEMIQNCLASLPDDLPHSEAGMRVKTEPMDADDSNNCTGQNEHQRENSGHRRDQIIEKDAALCVLIDEMNERP | null | null | positive regulation of transcription elongation by RNA polymerase II [GO:0032968]; positive regulation of transcription initiation by RNA polymerase II [GO:0060261]; protein ubiquitination [GO:0016567]; regulation of transcription by RNA polymerase II [GO:0006357]; RNA polymerase II preinitiation complex assembly [GO:0... | core mediator complex [GO:0070847]; mediator complex [GO:0016592]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription regulator complex [GO:0005667]; ubiquitin ligase complex [GO:0000151] | transcription coactivator activity [GO:0003713]; ubiquitin protein ligase activity [GO:0061630] | PF05983; | 6.10.140.200; | Mediator complex subunit 7 family | PTM: Constitutively sumoylated. {ECO:0000269|PubMed:17709345}. | SUBCELLULAR LOCATION: Nucleus. | null | null | null | null | null | FUNCTION: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to... | Homo sapiens (Human) |
O43516 | WIPF1_HUMAN | MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSGPPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPLSSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP... | null | null | actin filament-based movement [GO:0030048]; actin polymerization or depolymerization [GO:0008154]; protein-containing complex assembly [GO:0065003]; response to other organism [GO:0051707] | actin cytoskeleton [GO:0015629]; actin filament [GO:0005884]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; ruffle [GO:0001726] | actin binding [GO:0003779]; profilin binding [GO:0005522]; protein folding chaperone [GO:0044183]; SH3 domain binding [GO:0017124] | PF02205; | 2.30.29.30; | Verprolin family | null | SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, ruffle {ECO:0000269|PubMed:19910490}. Note=Vesicle surfaces and along actin tails. Colocalizes with actin stress fibers. When coexpressed with WASL, no longer associated with actin filaments but accumulated ... | null | null | null | null | null | FUNCTION: Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting in the disassembly of stress fibers in favor of filopodia formation. Plays a role in the formati... | Homo sapiens (Human) |
O43520 | AT8B1_HUMAN | MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIM... | 7.6.2.1 | COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250|UniProtKB:Q9Y2Q0}; | apical protein localization [GO:0045176]; bile acid and bile salt transport [GO:0015721]; bile acid metabolic process [GO:0008206]; Golgi organization [GO:0007030]; inner ear receptor cell development [GO:0060119]; monoatomic ion transmembrane transport [GO:0034220]; negative regulation of DNA-templated transcription [... | apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; phospholipid-translocating ATPase complex [GO:1990531]; plasma membrane [GO:0005886]; stereocilium [GO:0032420]; trans-Golgi network [GO:00058... | ATP binding [GO:0005524]; ATP hydrolysis activity [GO:0016887]; ATPase-coupled intramembrane lipid transporter activity [GO:0140326]; cardiolipin binding [GO:1901612]; magnesium ion binding [GO:0000287]; phosphatidylcholine flippase activity [GO:0140345]; phosphatidylcholine floppase activity [GO:0090554]; phosphatidyl... | PF13246;PF00122;PF16212;PF16209; | 3.40.1110.10;2.70.150.10;3.40.50.1000; | Cation transport ATPase (P-type) (TC 3.A.3) family, Type IV subfamily | null | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:20961850, ECO:0000269|PubMed:21914794, ECO:0000269|PubMed:25315773}; Multi-pass membrane protein. Apical cell membrane {ECO:0000269|PubMed:20512993}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q14... | CATALYTIC ACTIVITY: Reaction=ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.; EC=7.6.2.1; Evidence={ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:25315773}; CATALYTIC ACTIVITY: Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + AD... | null | null | null | null | FUNCTION: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane (PubMed:17948906, PubMed:25315773). May participate in the establishment of t... | Homo sapiens (Human) |
O43521 | B2L11_HUMAN | MAKQPSDVSSECDREGRQLQPAERPPQLRPGAPTSLQTEPQGNPEGNHGGEGDSCPHGSPQGPLAPPASPGPFATRSPLFIFMRRSSLLSRSSSGYFSFDTDRSPAPMSCDKSTQTPSPPCQAFNHYLSAMASMRQAEPADMRPEIWIAQELRRIGDEFNAYYARRVFLNNYQAAEDHPRMVILRLLRYIVRLVWRMH | null | null | activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; apoptotic process involved in embryonic digit morphogenesis [GO:1902263]; B cell homeostasis [GO:0001782]; cell-matrix adhesion [GO:0007160]; cellular response to glucocorticoid stimulus [GO:00... | Bcl-2 family protein complex [GO:0097136]; BIM-BCL-2 complex [GO:0097141]; BIM-BCL-xl complex [GO:0097140]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739] | microtubule binding [GO:0008017]; protein kinase binding [GO:0019901] | PF08945;PF06773; | null | Bcl-2 family | PTM: Phosphorylation at Ser-69 by MAPK1/MAPK3 leads to interaction with TRIM2 and polyubiquitination, followed by proteasomal degradation (PubMed:15486195, PubMed:21478148). Deubiquitination catalyzed by USP27X stabilizes the protein (By similarity). {ECO:0000250|UniProtKB:O54918, ECO:0000269|PubMed:15486195, ECO:00002... | SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Associated with intracytoplasmic membranes. {ECO:0000250}.; SUBCELLULAR LOCATION: [Isoform BimEL]: Mitochondrion. Note=Translocates from microtubules to mitochondria on loss of cell adherence.; SUBCELLULAR LOCATION:... | null | null | null | null | null | FUNCTION: Induces apoptosis and anoikis. Isoform BimL is more potent than isoform BimEL. Isoform Bim-alpha1, isoform Bim-alpha2 and isoform Bim-alpha3 induce apoptosis, although less potent than isoform BimEL, isoform BimL and isoform BimS. Isoform Bim-gamma induces apoptosis. Isoform Bim-alpha3 induces apoptosis possi... | Homo sapiens (Human) |
O43524 | FOXO3_HUMAN | MAEAPASPAPLSPLEVELDPEFEPQSRPRSCTWPLQRPELQASPAKPSGETAADSMIPEEEDDEDDEDGGGRAGSAMAIGGGGGSGTLGSGLLLEDSARVLAPGGQDPGSGPATAAGGLSGGTQALLQPQQPLPPPQPGAAGGSGQPRKCSSRRNAWGNLSYADLITRAIESSPDKRLTLSQIYEWMVRCVPYFKDKGDSNSSAGWKNSIRHNLSLHSRFMRVQNEGTGKSSWWIINPDGGKSGKAPRRRAVSMDNSNKYTKSRGRAAKKKAALQTAPESADDSPSQLSKWPGSPTSRSSDELDAWTDFRSRTNSNASTV... | null | null | antral ovarian follicle growth [GO:0001547]; brain morphogenesis [GO:0048854]; canonical Wnt signaling pathway [GO:0060070]; cellular response to amyloid-beta [GO:1904646]; cellular response to corticosterone stimulus [GO:0071386]; cellular response to glucose starvation [GO:0042149]; cellular response to glucose stimu... | chromatin [GO:0000785]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrial outer membrane [GO:0005741]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; RNA polymerase II transcription repressor complex [GO:0090571] | beta-catenin binding [GO:0008013]; chromatin DNA binding [GO:0031490]; 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:000098... | PF00250;PF16676;PF16675; | 6.10.250.1690;1.10.10.10; | null | PTM: In the presence of survival factors such as IGF-1, phosphorylated on Thr-32 and Ser-253 by AKT1/PKB (PubMed:10102273). This phosphorylated form then interacts with 14-3-3 proteins and is retained in the cytoplasm (PubMed:10102273). Survival factor withdrawal induces dephosphorylation and promotes translocation to ... | SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10102273, ECO:0000269|PubMed:15084260, ECO:0000269|PubMed:16751106, ECO:0000269|PubMed:17711846, ECO:0000269|PubMed:21329882, ECO:0000269|PubMed:22313691, ECO:0000269|PubMed:22761832, ECO:0000269|PubMed:23283301}. Nucleus {ECO:0000269|PubMed:10102273, ECO:000... | null | null | null | null | null | FUNCTION: Transcriptional activator that recognizes and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3' and regulates different processes, such as apoptosis and autophagy (PubMed:10102273, PubMed:16751106, PubMed:21329882, PubMed:30513302). Acts as a positive regulator of autophagy in skeletal muscle: in starved cells, e... | Homo sapiens (Human) |
O43525 | KCNQ3_HUMAN | MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAGADKDGTLLLEGGGRDEGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRGWALLYHALVFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGCCCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRMDRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEFETYADALWWGLITLATIGYG... | null | null | action potential initiation [GO:0099610]; apoptosome assembly [GO:0097314]; cellular response to calcium ion [GO:0071277]; cellular response to xenobiotic stimulus [GO:0071466]; chemical synaptic transmission [GO:0007268]; endocytosis [GO:0006897]; excitatory chemical synaptic transmission [GO:0098976]; exocytosis [GO:... | axon initial segment [GO:0043194]; cell surface [GO:0009986]; mitochondrion [GO:0005739]; node of Ranvier [GO:0033268]; plasma membrane [GO:0005886]; synapse [GO:0045202]; voltage-gated potassium channel complex [GO:0008076] | calmodulin binding [GO:0005516]; voltage-gated potassium channel activity [GO:0005249] | PF00520;PF03520;PF11956; | 1.10.287.70;6.10.140.1910; | Potassium channel family, KQT (TC 1.A.1.15) subfamily, Kv7.3/KCNQ3 sub-subfamily | PTM: KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to protein degradation (Probable). Degradation induced by NEDD4L is inhibited by USP36 (PubMed:27445338). {ECO:0000269|PubMed:27445338, ECO:0000305|PubMed:27445338}. | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10788442}; Multi-pass membrane protein {ECO:0000255}. | null | null | null | null | null | FUNCTION: Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as ... | Homo sapiens (Human) |
O43526 | KCNQ2_HUMAN | MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKV... | null | null | chemical synaptic transmission [GO:0007268]; nervous system development [GO:0007399]; potassium ion transmembrane transport [GO:0071805] | axon initial segment [GO:0043194]; node of Ranvier [GO:0033268]; plasma membrane [GO:0005886]; synapse [GO:0045202]; voltage-gated potassium channel complex [GO:0008076] | ankyrin binding [GO:0030506]; calmodulin binding [GO:0005516]; voltage-gated potassium channel activity [GO:0005249] | PF00520;PF16642;PF03520;PF11956; | 1.10.287.70;6.10.140.1910; | Potassium channel family, KQT (TC 1.A.1.15) subfamily, Kv7.2/KCNQ2 sub-subfamily | PTM: KCNQ2/KCNQ3 heteromeric current can be increased by intracellular cyclic AMP, an effect that depends on phosphorylation of Ser-52 in the N-terminal region. {ECO:0000269|PubMed:16319223, ECO:0000269|PubMed:9872318}.; PTM: KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to protein degradation (Probable... | SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10788442, ECO:0000269|PubMed:9836639}; Multi-pass membrane protein {ECO:0000255}. | null | null | null | null | null | FUNCTION: Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the respo... | Homo sapiens (Human) |
O43529 | CHSTA_HUMAN | MHHQWLLLAACFWVIFMFMVASKFITLTFKDPDVYSAKQEFLFLTTMPEVRKLPEEKHIPEELKPTGKELPDSQLVQPLVYMERLELIRNVCRDDALKNLSHTPVSKFVLDRIFVCDKHKILFCQTPKVGNTQWKKVLIVLNGAFSSIEEIPENVVHDHEKNGLPRLSSFSDAEIQKRLKTYFKFFIVRDPFERLISAFKDKFVHNPRFEPWYRHEIAPGIIRKYRRNRTETRGIQFEDFVRYLGDPNHRWLDLQFGDHIIHWVTYVELCAPCEIMYSVIGHHETLEDDAPYILKEAGIDHLVSYPTIPPGITVYNRTKV... | 2.8.2.- | null | androgen metabolic process [GO:0008209]; carbohydrate biosynthetic process [GO:0016051]; cell adhesion [GO:0007155]; estrogen metabolic process [GO:0008210]; learning [GO:0007612]; long-term memory [GO:0007616]; proteoglycan biosynthetic process [GO:0030166] | Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020] | HNK-1 sulfotransferase activity [GO:0016232]; sulfotransferase activity [GO:0008146] | PF03567; | null | Sulfotransferase 2 family | null | SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:O54702}; Single-pass type II membrane protein {ECO:0000255}. | CATALYTIC ACTIVITY: Reaction=3'-phosphoadenylyl sulfate + 3-O-{beta-D-GlcA-(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein] = 3-O-{O-3-S-beta-D-GlcA-(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n)-4)-bet... | BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.21 mM for dehydroepiandrosterone 3-O-(beta-D-glucuronate) (GlcUA-3-DHEA) {ECO:0000269|PubMed:23269668}; KM=0.321 mM for 17beta-estradiol 3-O-(beta-D-glucuronate) (GlcUA-3-E2) {ECO:0000269|PubMed:23269668}; KM=1.518 mM for N-acetyllactosamine 3-O-(beta-D-glucurona... | PATHWAY: Steroid metabolism. {ECO:0000269|PubMed:23269668}.; PATHWAY: Protein modification; carbohydrate sulfation. {ECO:0000269|PubMed:32149355}. | null | null | FUNCTION: Catalyzes the transfer of sulfate from 3'-phosphoadenylyl sulfate (PAPS) to position 3 of terminal glucuronic acid of both protein- and lipid-linked oligosaccharides. Participates in biosynthesis of HNK-1 carbohydrate structure 3-O-sulfo-beta-D-GlcA-(1->3)-beta-D-Gal-(1->4)-D-GlcNAc-R, a sulfated glucuronyl-l... | Homo sapiens (Human) |
O43541 | SMAD6_HUMAN | MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPPRPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLLKRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSDAS... | null | null | anatomical structure morphogenesis [GO:0009653]; aorta development [GO:0035904]; aortic valve morphogenesis [GO:0003180]; BMP signaling pathway [GO:0030509]; cell differentiation [GO:0030154]; cell-substrate adhesion [GO:0031589]; coronary vasculature development [GO:0060976]; fat cell differentiation [GO:0045444]; imm... | chromatin [GO:0000785]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; heteromeric SMAD protein complex [GO:0071144]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991] | chromatin binding [GO:0003682]; co-SMAD binding [GO:0070410]; I-SMAD binding [GO:0070411]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein sequestering activity [GO:0140311]; R-SMAD binding [GO:0070412]; transcription cis-regulatory region binding [GO:0000976]; transcription regulator in... | PF03165;PF03166; | 2.60.200.10;3.90.520.10; | Dwarfin/SMAD family | PTM: Phosphorylated by BMP type 1 receptor kinase and by PRKX. {ECO:0000269|PubMed:16491121}.; PTM: Monoubiquitinated at Lys-173 by the E2/E3 hybrid ubiquitin-protein ligase UBE2O, leading to reduced binding affinity for the activated BMP type I receptor ACVR1/ALK2, thereby enhancing BMP7 and regulating adipocyte diffe... | SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16491121}. | null | null | null | null | null | FUNCTION: Transforming growth factor-beta superfamily receptors signaling occurs through the Smad family of intracellular mediators. SMAD6 is an inhibitory Smad (i-Smad) that negatively regulates signaling downstream of type I transforming growth factor-beta (PubMed:10647776, PubMed:10708948, PubMed:10708949, PubMed:16... | Homo sapiens (Human) |
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