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https://en.wikipedia.org/wiki/Small%20nuclear%20ribonucleoprotein%20D2 | Small nuclear ribonucleoprotein Sm D2 is a protein that in humans is encoded by the SNRPD2 gene. It belongs to the small nuclear ribonucleoprotein core protein family, and is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified.
Interactions
Small nuclear ribonucleoprotein D2 has been shown to interact with DDX20, Small nuclear ribonucleoprotein D1, Small nuclear ribonucleoprotein polypeptide F, CDC5L and SMN1.
References
Further reading |
https://en.wikipedia.org/wiki/Small%20nuclear%20ribonucleoprotein%20polypeptide%20E | Small nuclear ribonucleoprotein E is a protein that in humans is encoded by the SNRPE gene.
Interactions
Small nuclear ribonucleoprotein polypeptide E has been shown to interact with DDX20 and Small nuclear ribonucleoprotein polypeptide F.
References
Further reading |
https://en.wikipedia.org/wiki/TAF12 | Transcription initiation factor TFIID subunit 12 is a protein that in humans is encoded by the TAF12 gene.
Function
Control of transcription by RNA polymerase II involves the basal transcription machinery, which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes that are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached, whereas others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I.
Interactions
TAF12 has been shown to interact with TAF9 and Transcription initiation protein SPT3 homolog.
References
Further reading
External links |
https://en.wikipedia.org/wiki/TCEA1 | Transcription elongation factor A protein 1 is a protein that in humans is encoded by the TCEA1 gene.
In other organisms, this gene is better known as transcription elongation factor II S (TFIIS). It mainly helps to resolve backtracked elongation complexes by inducing a cut in the RNAP active site, so reaction becomes possible again. It is also found in the eukaryotic transcription preinitiation complex. A homolog in archaea performs the same main task, while bacteria use the non-homologous Gre.
Interactions
TCEA1 has been shown to interact with GTF2H1 and POLR2A.
References
Further reading |
https://en.wikipedia.org/wiki/TFE3 | Transcription factor E3 is a protein that in humans is encoded by the TFE3 gene.
Function
TFE3, a member of the helix-loop-helix family of transcription factors, binds to the mu-E3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types (Henthorn et al., 1991).[supplied by OMIM]
Interactions
TFE3 has been shown to interact with:
E2F3,
Microphthalmia-associated transcription factor, and
Mothers against decapentaplegic homolog 3
Translocations
A proportion of renal carcinomas (RCC) that occur in young patients are associated with translocations involving the TFE3 gene at chromosome Xp11.2 PRCC
References
Further reading |
https://en.wikipedia.org/wiki/Homeobox%20protein%20TGIF1 | Homeobox protein TGIF1 is a protein that, in humans, is encoded by the TGIF1 gene. Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described.
Function
The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult.
Clinical significance
Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. It has also been associated with risk of otitis media (inflammation of the middle ear)
Interactions
Homeobox protein TGIF1 has been shown to interact with:
C-jun,
CTBP1,
HDAC1, and
Mothers against decapentaplegic homolog 2.
References
Further reading |
https://en.wikipedia.org/wiki/TGM3 | Protein-glutamine gamma-glutamyltransferase E is an enzyme that in humans is encoded by the TGM3 gene.
Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle.
See also
Proximal promoter
References
Further reading |
https://en.wikipedia.org/wiki/Pole%20splitting | Pole splitting is a phenomenon exploited in some forms of frequency compensation used in an electronic amplifier. When a capacitor is introduced between the input and output sides of the amplifier with the intention of moving the pole lowest in frequency (usually an input pole) to lower frequencies, pole splitting causes the pole next in frequency (usually an output pole) to move to a higher frequency. This pole movement increases the stability of the amplifier and improves its step response at the cost of decreased speed.
Example of pole splitting
This example shows that introduction of the capacitor referred to as CC in the amplifier of Figure 1 has two results: first it causes the lowest frequency pole of the amplifier to move still lower in frequency and second, it causes the higher pole to move higher in frequency. The amplifier of Figure 1 has a low frequency pole due to the added input resistance Ri and capacitance Ci, with the time constant Ci ( RA || Ri ). This pole is moved down in frequency by the Miller effect. The amplifier is given a high frequency output pole by addition of the load resistance RL and capacitance CL, with the time constant CL ( Ro || RL ). The upward movement of the high-frequency pole occurs because the Miller-amplified compensation capacitor CC alters the frequency dependence of the output voltage divider.
The first objective, to show the lowest pole moves down in frequency, is established using the same approach as the Miller's theorem ar |
https://en.wikipedia.org/wiki/TPM2 | β-Tropomyosin, also known as tropomyosin beta chain is a protein that in humans is encoded by the TPM2 gene. β-tropomyosin is striated muscle-specific coiled coil dimer that functions to stabilize actin filaments and regulate muscle contraction.
Structure
β-tropomyosin is roughly 32 kDa in molecular weight (284 amino acids), but multiple splice variants exist. Tropomysin is a flexible protein homodimer or heterodimer composed of two alpha-helical chains, which adopt a bent coiled coil conformation to wrap around the seven actin molecules in a functional unit of muscle. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. Tropomyosin dimers are composed of varying combinations of tropomyosin isoforms; human striated muscles express protein from the TPM1 (α-tropoomyosin), TPM2 (β-tropomyosin) and TPM3 (γ-tropomyosin) genes, with α-tropomyosin being the predominant isoform in striated muscle. Fast skeletal muscle and cardiac muscle contain more αα-homodimers, and slow skeletal muscle contains more ββ-homodimers. In human cardiac muscle the ratio of α-tropomyosin to β-tropomyosin is roughly 5:1. It has been shown that different combinations of tropomyosin isoforms bind troponin T with differing affinities, demonstrating that isoform combinations are used to impart a specific functional impact.
Function
β-tropomyosin functions in association with α-tropomyosin and the troponin complex—composed of troponin I, troponin C |
https://en.wikipedia.org/wiki/UGT1A6 | UDP-glucuronosyltransferase 1-6 is an enzyme that in humans is encoded by the UGT1A6 gene.
Function
UDP-glucuronosyltransferase 1-6 is a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites.
This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants.
This enzyme is also responsible for the inactivation of popular analgesic drugs, such as aspirin and acetaminophen, by glucuronidation. The loss of a functional UGT1A6 gene in certain hypercarnivores, and particularly cats, renders the animals extremely sensitive to the adverse effects of these analgesics.
References
Further reading |
https://en.wikipedia.org/wiki/CD177 | CD177 antigen is a protein that in humans is encoded by the CD177 gene.
NB1, a glycosyl-phosphatidylinositol (GPI)-linked N-glycosylated cell surface glycoprotein, was first described in a case of neonatal alloimmune neutropenia (Lalezari et al., 1971). [supplied by OMIM]
See also
Cluster of differentiation
References
Further reading
External links
Clusters of differentiation |
https://en.wikipedia.org/wiki/CDC2L2 | PITSLRE serine/threonine-protein kinase CDC2L2 is an enzyme that in humans is encoded by the CDC2L2 gene.
References
External links
Further reading |
https://en.wikipedia.org/wiki/Multinomial%20probit | In statistics and econometrics, the multinomial probit model is a generalization of the probit model used when there are several possible categories that the dependent variable can fall into. As such, it is an alternative to the multinomial logit model as one method of multiclass classification. It is not to be confused with the multivariate probit model, which is used to model correlated binary outcomes for more than one independent variable.
General specification
It is assumed that we have a series of observations Yi, for i = 1...n, of the outcomes of multi-way choices from a categorical distribution of size m (there are m possible choices). Along with each observation Yi is a set of k observed values x1,i, ..., xk,i of explanatory variables (also known as independent variables, predictor variables, features, etc.). Some examples:
The observed outcomes might be "has disease A, has disease B, has disease C, has none of the diseases" for a set of rare diseases with similar symptoms, and the explanatory variables might be characteristics of the patients thought to be pertinent (sex, race, age, blood pressure, body-mass index, presence or absence of various symptoms, etc.).
The observed outcomes are the votes of people for a given party or candidate in a multi-way election, and the explanatory variables are the demographic characteristics of each person (e.g. sex, race, age, income, etc.).
The multinomial probit model is a statistical model that can be used to predict the |
https://en.wikipedia.org/wiki/Ck%20Calvin%20Klein | ck Calvin Klein is a diffusion line of Calvin Klein.
Activities
ck Calvin Klein apparel is distributed for women and men exclusively through licensing partner Onward Kashiyama in Japan, and through free-standing stores operated by licensee Club 21 in Southeast Asia. Licensing partner G.A.V. is to launch women's apparel under the brand in the U.S. in the Spring of 2005.
In 2005, Kashiyama was the ck Calvin Klein ready-to-wear license holder in Japan with retail value of €20 million.
In December 2005, the Warnaco Group announced that, in 2006, they would acquire 100% of the shares of the companies that operate the licenses and related wholesale and retail businesses of Calvin Klein Jeans and accessories in Europe and Asia as well as the ck Calvin Klein bridge line of sportswear and accessories in Europe from Fingen SpA, a Florentine holding company, and Euro Cormar SpA for €240 million.
ck watches and jewelry
Watches
ck watches are produced under license by The Swatch Group, the world's largest producer of watches.
In 2014 the brand was changed from cK watches to Calvin Klein Watches and all new models introduced at Baselworld 2014 had the "Calvin Klein" logo on the dial instead of the CK logo.
Jewelry
ck jewelry are sold in Japan through Vendome Yamada Corp., one of the leading Japanese manufactures and distributors of fashion jewelry. A complementary collection was introduced worldwide outside Japan in 2004 under a license with The Swatch Group.
See also
Calvin Klei |
https://en.wikipedia.org/wiki/THPO | THPO may refer to:
Tribal Historic Preservation Officer, and official position in the united states
Thrombopoietin, a protein
the OMIM disorder code for essential thrombocythemia, the presence of high platelet (thrombocyte) counts in the blood |
https://en.wikipedia.org/wiki/ADCY6 | Adenylyl cyclase type 6 is an enzyme that in humans is encoded by the ADCY6 gene.
Function
This gene encodes adenylyl cyclase 6, which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). The expression of this gene is found in normal thyroid and brain tissues, as well as some tumors; and its expression is significantly higher in one hyperfunctioning thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript variants.
References
External links
Further reading
EC 4.6.1 |
https://en.wikipedia.org/wiki/CDC5L | Cell division cycle 5-like protein is a protein that in humans is encoded by the CDC5L gene.
Function
The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing.
Interactions
CDC5L has been shown to interact with:
ASF/SF2,
BZW1,
CWC15,
DNA-PKcs,
DYNC1H1,
GCN1L1,
HSPA8,
ILF2,
PLRG1,
PPM1D,
PPP1CA,
PRPF19,
RBMX and
RPL12,
RPL13,
RPS16,
RPS25,
SF3A1,
SF3B1,
SF3B2,
SF3B4,
SFPQ,
SFRS2,
SNRPA1,
SNRPD3,
SRRM1,
Small nuclear ribonucleoprotein D1,
Small nuclear ribonucleoprotein D2,
Small nuclear ribonucleoprotein polypeptide A,
TOP2A, and
TTF2.
See also
G2/M checkpoint
References
Further reading
External links |
https://en.wikipedia.org/wiki/CENPF | Centromere protein F is a protein that in humans is encoded by the CENPF gene. It is involved in chromosome segregation during cell division. It also has a role in the orientation of microtubules to form cellular cilia.
Function
CENPF is part of the nuclear matrix during the G2 phase of the cell cycle (the phase of rapid protein synthesis in preparation for mitosis). In late G2, the protein forms part of the kinetochore, a disc-shaped protein complex that allows the centromere of two sister chromatids to attach to microtubules (forming the spindle apparatus) in order for the microtubules to pull them apart in the process of dividing the cell. It remains part of the kinetochore through early anaphase (the chromosome-dividing phase). In late anaphase, CENPF localises to the spindle midzone, and in telophase (the cell-dividing phase) it localises to the intercellular bridge. It is thought to be subsequently degraded. Mutations in CENPF lead to impaired cell division during early development. Mitosis has been found to take longer when the gene is mutated.
Microtubules are protein structures that are part of the cytoskeleton and are necessary for cells to have diverse, complex shapes and migratory ability. They are made by the centrosome, which contains a pair of cylindrical centrioles at right-angles to each other. Before division, CENPF localises at the end of one of the centrioles (the mother centriole) in order to orient microtubules correctly to form thin cellular projecti |
https://en.wikipedia.org/wiki/Centrin%202 | Centrin-2 is a protein that in humans is encoded by the CETN2 gene. It belongs to the centrin family of proteins.
Centrin-2 belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome suggested that centrin-2 plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome.
Interactions
CETN2 has been shown to interact with XPC and SFI1.
References
External links
Further reading
EF-hand-containing proteins |
https://en.wikipedia.org/wiki/CHRNA1 | Neuronal acetylcholine receptor subunit alpha-1, also known as nAChRα1, is a protein that in humans is encoded by the CHRNA1 gene. The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAchR).
The muscle acetylcholine receptor consists of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetylcholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.
Interactions
Cholinergic receptor, nicotinic, alpha 1 has been shown to interact with CHRND.
See also
Nicotinic acetylcholine receptor
References
Further reading
External links
Ion channels
Nicotinic acetylcholine receptors |
https://en.wikipedia.org/wiki/WARS%20%28gene%29 | Tryptophanyl-tRNA synthetase, cytoplasmic is an aminoacyl-tRNA synthetase enzyme that attaches the amino acid tryptophan to its cognate tRNA. In humans, it is encoded by the WARS gene.
Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene.
Phenylalanine Incorporation
Although WARS1 classically aminoacylates tryptophan, during states tryptophan depeletion, this enzyme has been observed to activate both tryptophan and phenylalanine.
References
Further reading |
https://en.wikipedia.org/wiki/Protein%20Wnt-5a | Protein Wnt-5a is a protein that in humans is encoded by the WNT5A gene.
Function
The WNT gene family consists of structurally related genes that encode secreted signaling lipid modified glycoproteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. The WNT5A is highly expressed in the dermal papilla of depilated skin. It encodes a protein showing 98%, 98%, and 87% amino acid identity to the mouse, rat and the xenopus Wnt5a protein, respectively. Wnts, specifically Wnt5a, have also been positively correlated and implicated in inflammatory diseases such as rheumatoid arthritis, tuberculosis, and atherosclerosis. A central player and active secretor of Wnt5a in both cancer and these inflammatory diseases are macrophages. Experiments performed in Xenopus laevis embryos have identified that human frizzled-5 (hFz5) is the receptor for the Wnt5a ligand and the Wnt5a/hFz5 signaling mediates axis induction. However, non-canonical Wnt5a has also been shown to bind to Ror1/2, RYK, and RTK depending on cell and receptor context to mediate a variety of functions ranging from cell proliferation, polarity, differentiation and apoptosis.
Development
WNT5A is a signaling molecule expressed embryonically during gastrulation in various developing body regions including the caudal mesoderm of the primitive streak, lateral mesoderm, |
https://en.wikipedia.org/wiki/BAT1 | Spliceosome RNA helicase BAT1 is an enzyme that in humans is encoded by the BAT1 gene.
This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and also plays an important role in mRNA export from the nucleus to the cytoplasm. A cluster of genes, BAT1-BAT5, is localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants encoding the same protein have been described.
References
External links
PDBe-KB provides an overview of all the structure information available in the PDB for Human Spliceosome RNA helicase DDX39B (BAT1)
Further reading |
https://en.wikipedia.org/wiki/FOSL1 | Fos-related antigen 1 (FRA1) is a protein that in humans is encoded by the FOSL1 gene.
Function
The Fos gene family consists of 4 members: c-Fos, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation.
Interactions
FOSL1 has been shown to interact with USF1 (human gene) and C-jun.
See also
AP-1 (transcription factor)
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/ARID1A | AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.
Function
ARID1A is a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodelling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has an ARID domain, which is a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SWI/SNF complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SWI/SNF complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene.
Clinical significance
This gene has been commonly found mutated in gastric cancers, ovarian clear cell carcinoma, and pancreatic cancer.
In breast cancer distant metastases acquire inactivation mutations in ARID1A not seen in the primary tumor, and reduced ARID1A expression confers resistance to different drugs such as tras |
https://en.wikipedia.org/wiki/Telethonin | Telethonin, also known as Tcap, is a protein that in humans is encoded by the TCAP gene. Telethonin is expressed in cardiac and skeletal muscle at Z-discs and functions to regulate sarcomere assembly, T-tubule function and apoptosis. Telethonin has been implicated in several diseases, including limb-girdle muscular dystrophy, hypertrophic cardiomyopathy, dilated cardiomyopathy and idiopathic cardiomyopathy.
Structure
Telethonin is a 19.0 kDa protein composed of 167 amino acids.
Telethonin has a unique β-sheet structure, which enables antiparallel association with the Titin Z1-Z2 domains in cardiac and skeletal muscle. Structural analysis of full-length Telethonin with the N-terminal region of Titin indicate that the C-terminus of Telethonin is critical for the dimerization of two Telethonin/Titin complexes into a higher oligomeric structure.
Function
Telethonin expression is developmentally regulated in both cardiac and skeletal muscle and is thought to be critical to sarcomere assembly. Telethonin was found to be a late assembling protein only present in mature myofibrils at Z-discs.
Telethonin forms a complex with muscle LIM protein (MLP) at sarcomere Z-discs, which constitutes part of the cardiomyocyte stretch sensory mechanism. It has also been shown that Telethonin binds to the beta-subunit of the slow activating component of the delayed rectifier potassium channel, MinK, in areas localized to T-tubule membranes surrounding Z-lines in the inner myocardium. In additio |
https://en.wikipedia.org/wiki/USO1 | General vesicular transport factor p115 is a protein that in humans is encoded by the USO1 gene.
Function
The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum (ER), where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Transport from the ER to the cis/medial Golgi compartments requires the action of this gene product, GOLGA2, and giantin in a sequential manner.
Interactions
USO1 has been shown to interact with:
GOSR1,
GOSR2,
SCFD1, and
STX5.
References
Further reading
Armadillo-repeat-containing proteins |
https://en.wikipedia.org/wiki/ABCC3 | Canalicular multispecific organic anion transporter 2 is a protein that in humans is encoded by the ABCC3 gene.
Function
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.
ABCC3 is induced as a hepatoprotective response to a variety of pathologic liver conditions. The constitutive androstane receptor, pregnane X receptor and nuclear factor (erythroid-derived 2)-like 2 (Nrf2) transcription factors are involved in mediating induction. A functional antioxidant response element in the 8th intron of the human ABCC3 gene appears responsible for Nrf2-mediated induction in response to oxidative stress.
Interactive pathway map
See also
ATP-binding cassette transporter
References
Further reading
External links
ATP-binding cassette transporters |
https://en.wikipedia.org/wiki/AH%20receptor-interacting%20protein | AH receptor-interacting protein (AIP) also known as aryl hydrocarbon receptor-interacting protein, immunophilin homolog ARA9, or HBV X-associated protein 2 (XAP-2) is a protein that in humans is encoded by the AIP gene. The protein is a member of the FKBP family.
Function
AIP may play a positive role in aryl hydrocarbon receptor-mediated signalling possibly by influencing its receptivity for ligand and/or its nuclear targeting. AIP is the cellular negative regulator of the hepatitis B virus (HBV) X protein. Further, it's been known to suppress antiviral signaling and the induction of type I interferon by targeting IRF7, a key player in the antiviral signal pathways. AIP consists of an N-terminal FKBP52 like domain and a C-terminal TPR domain.
Mutations and role in disease
AIP mutations may be the cause of a familial form of acromegaly, familial isolated pituitary adenoma (FIPA). Somatotropinomas (i.e. GH-producing pituitary adenomas), sometimes associated with prolactinomas, are present in most AIP mutated patients.
Interactions
AIP has been shown to interact with the aryl hydrocarbon receptor, peroxisome proliferator-activated receptor alpha and the aryl hydrocarbon receptor nuclear translocator. Further, it has shown that AIP can interact with IRF7 to exert its novel function of negatively regulating antiviral signal pathways.
References
Further reading |
https://en.wikipedia.org/wiki/Syndecan-3 | Syndecan-3 is a protein that in humans is encoded by the SDC3 gene.
References
Further reading |
https://en.wikipedia.org/wiki/MED12 | Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome.
Clinical significance
Mutations in MED12 are responsible for at least two different forms of X-linked dominant mental retardation, Lujan-Fryns syndrome and FG syndrome, as well as instances of prostate cancer.
Mutations in MED12 are associated with uterine leiomyomas and breast fibroepithelial tumors (e.g. fibroadenoma and phyllodes tumors).
Interactions
MED12 has been shown to interact with:
Calcitriol receptor,
Cyclin-dependent kinase 8
Estrogen receptor alpha,
Gli3, G9a, PPARGC1A,
MED26,
SOX9, and
Thyroid hormone receptor alpha.
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on MED12-Related Disorders |
https://en.wikipedia.org/wiki/Semaphorin-3A | Semaphorin-3A is a protein that in humans is encoded by the SEMA3A gene.
Function
The SEMA3A gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted Semaphorin-3A protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development.
Semaphorin-3A is secreted by neurons and surrounding tissue to guide migrating cells and axons in the developing nervous system. Axon pathfinding is the process by which neurons follow very precise paths, sends out axons, and react to specific chemical environments to reach the correct endpoint. The guidance is critical for the precise formation of neurons and the surrounding vasculature. Guidance cues, such as Sema3A, induce the collapse and paralysis of neuronal growth cones during development of the nervous system.
This guidance cue for axons of neurons is signaled through receptor complexes containing Neuropilin-1 (NRP1) and a co-receptor. One of the first identified intracellular messenger required for the growth cone-collapse induced by Sema3A is the CRMP protein called CRMP2.
In addition to its role in the nervous system, Sema3A also acts as an inhibitor of angiogenesis, the process by which new blood vessels develop.
Clinical significance
The protein semaphorin- |
https://en.wikipedia.org/wiki/PIAS3 | E3 SUMO-protein ligase PIAS3 is an enzyme that in humans is encoded by the PIAS3 gene.
PIAS family
The mammalian PIAS family consists of four members: PIAS1, PIAS2, PIAS3 and PIAS4. In Drosophila, a single PIAS homologue named dPIAS/Zimp has been identified. In yeast, two PIAS-related proteins were identified namely SIZ1 and SIZ2. The PIAS family contains more than 60 proteins, most of them transcription factors that can be either positively or negatively regulated through multiple mechanisms.
Discovery
IAS proteins were originally identified in studies that were aimed to decipher the Janus Kinase (JAK)/STAT signaling pathway. Originally, PIAS3 was found to interact specifically with phosphorylated STAT3 in Interleukin -6 (IL-6) activated murine myeloblast M1 cells. This interaction is mediated via PIAS3 binding to the STAT3 DNA binding domain. Hence, STAT3 transcriptional activity is inhibited by the physical prevention of its binding to target genes. Subsequently, PIAS3 was also found to be a regulator protein of other key transcription factors, including MITF, NFκB, SMAD and estrogen receptor.
Function
PIAS3 protein also functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length |
https://en.wikipedia.org/wiki/Cholponbek%20Esenkul%20Uulu | Cholponbek Esenkul Uulu (born 15 January 1986) is a former Kyrgyzstani footballer who played as a striker.
Career statistics
International
Statistics accurate as of match played 5 September 2014
International Goals
References
External links
1986 births
Living people
Kyrgyzstani men's footballers
Kyrgyzstan men's international footballers
Kyrgyzstani expatriate men's footballers
Footballers at the 2014 Asian Games
Men's association football forwards
Asian Games competitors for Kyrgyzstan |
https://en.wikipedia.org/wiki/NDC80 | Kinetochore protein NDC80 homolog is a protein that in humans is encoded by the NDC80 gene.
Function
Ndc80 is one of the proteins of outer kinetochore. It forms a heterotetramer with proteins NUF2, SPC25, and SPC24. This protein complex has microtubule-binding domains.
HEC is one of several proteins involved in spindle checkpoint signaling. This surveillance mechanism assures correct segregation of chromosomes during cell division by detecting unaligned chromosomes and causing prometaphase arrest until the proper bipolar attachment of chromosomes is achieved.
Interactions
NDC80 has been shown to interact with MIS12, NEK2 and PSMC2.
References
Further reading
Human proteins |
https://en.wikipedia.org/wiki/YAP1 | YAP1 (yes-associated protein 1), also known as YAP or YAP65, is a protein that acts as a transcription coregulator that promotes transcription of genes involved in cellular proliferation and suppressing apoptotic genes. YAP1 is a component in the hippo signaling pathway which regulates organ size, regeneration, and tumorigenesis. YAP1 was first identified by virtue of its ability to associate with the SH3 domain of Yes and Src protein tyrosine kinases. YAP1 is a potent oncogene, which is amplified in various human cancers.
Structure
Cloning of the YAP1 gene facilitated the identification of a modular protein domain, known as the WW domain. Two splice isoforms of the YAP1 gene product were initially identified, named YAP1-1 and YAP1-2, which differed by the presence of an extra 38 amino acids that encoded the WW domain. Apart from the WW domain, the modular structure of YAP1 contains a proline-rich region at the very amino terminus, which is followed by a TID (TEAD transcription factor interacting domain). Next, following a single WW domain, which is present in the YAP1-1 isoform, and two WW domains, which are present in the YAP1-2 isoform, there is the SH3-BM (Src Homology 3 binding motif). Following the SH3-BM is a TAD (transactivation domain) and a PDZ domain-binding motif (PDZ-BM) (Figure 1).
Function
YAP1 is a transcriptional co-activator and its proliferative and oncogenic activity is driven by its association with the TEAD family of transcription factors, which u |
https://en.wikipedia.org/wiki/IGF2BP1 | Insulin-like growth factor 2 mRNA-binding protein 1 is a protein that in humans is encoded by the IGF2BP1 gene.
This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the 5' UTR of the insulin-like growth factor 2 (IGF2) mRNA and regulating IGF2 translation.
See also
IGF2BP2
IGF2BP3
References
Further reading |
https://en.wikipedia.org/wiki/SPINT2 | Kunitz-type protease inhibitor 2 is an enzyme inhibitor that in humans is encoded by the SPINT2 gene.
SPINT2 is a transmembrane protein with two extracellular Kunitz domains to inhibit serine proteases. This gene is a presumed tumor suppressor by inhibiting HGF activator which prevents the formation of active hepatocyte growth factor. Mutations in SPINT2 could result in congenital sodium diarrhea (CSD).
References
Further reading
External links |
https://en.wikipedia.org/wiki/EGLN2 | Egl nine homolog 2 is a protein that in humans is encoded by the EGLN2 gene. ELGN2 is an alpha-ketoglutarate-dependent hydroxylase, a superfamily of non-haem iron-containing proteins.
The hypoxia inducible factor (HIF) is a transcriptional complex which is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degradation by prolyl hydroxylation.
This gene encodes an enzyme responsible for this posttranslational modification. Multiple alternatively spliced variants, encoding the same protein, have been identified.
References
Further reading
Human 2OG oxygenases
EC 1.14.11 |
https://en.wikipedia.org/wiki/CRABP2 | Cellular retinoic acid-binding protein 2 is a cytoplasmic binding protein that in humans is encoded by the CRABP2 gene.
CRABP2 is structurally similar to CRABP1, but CRABP2 has a lower affinity for retinoic acid (RA). CRABP2 is associated with cells that produce large amounts of retinoic acid and may play a role in mediating the effects of retinoic acid in the cell.
Function
A number of specific carrier proteins for members of the vitamin A family have been discovered. Retinoic acid is an active metabolite of vitamin A (retinol). Cellular retinoic acid binding proteins (CRABP) are low molecular weight proteins whose precise function remains largely unknown.
The inducibility of the CRABP2 gene suggests that this isoform is important in retinoic acid-mediated regulation of human skin growth, differentiation and development. CRABP2 is involved in the metabolism and transportation of retinoic acid from the cytosol to the RARs (retinoic acid receptors) located in the nucleus. CRABP2 is specifically co-expressed with RAR-β and cellular retinol binding protein 1 genes in certain tissues. It has been postulated that the CRABP2 gene is transcriptionally regulated by a newly synthesized regulatory protein.
Tissue distribution
Tissue distribution of the CRABP2 gene has primarily been studied using mouse models. During embryonic development, CRABP2 is present in tissues throughout the body in a more diffuse pattern than CRABP1. CRABP1 is more isolated to specific regions, though |
https://en.wikipedia.org/wiki/DBN1 | Drebrin is a protein that in humans is encoded by the DBN1 gene.
The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene.
Model organisms
Model organisms have been used in the study of DBN1 function. A conditional knockout mouse line called Dbn1tm1b(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping
References
Further reading |
https://en.wikipedia.org/wiki/DPYSL2 | Dihydropyrimidinase-related protein 2 is an enzyme that in humans is encoded by the DPYSL2 gene.
Interactions
DPYSL2 has been shown to interact with CRMP1, Adaptor-related protein complex 2, alpha 1 and NUMB.
References
Further reading |
https://en.wikipedia.org/wiki/Ectodysplasin%20A | Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene.
Ectodysplasin A is a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as skin in humans. It is recognized by the ectodysplasin A receptor.
Function
The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Along with c-Met, it has been shown to be involved in the differentiation of anatomical placodes, precursors of scales, feathers and hair follicles in vertebrates. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. At least 61 disease-causing mutations in this gene have been discovered.
References
Further reading
External links
GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia |
https://en.wikipedia.org/wiki/FKBP5 | FK506 binding protein 5, also known as FKBP5, is a protein which in humans is encoded by the FKBP5 gene.
Function
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants tacrolimus (FK506) and sirolimus (rapamycin). It is thought to mediate calcineurin inhibition. It also interacts functionally with mature corticoid receptor hetero-complexes (i.e. progesterone-, glucocorticoid-, mineralocorticoid-receptor complexes) along with the 90 kDa heat shock protein and PTGES3 (P23 protein).
As an Hsp90-associated co-chaperone that regulates the responsiveness of steroid hormone receptors, FKBP51 plays an important role in stress endocrinology and glucocorticoid signaling.
Clinical significance
The FKBP5 gene has been found to have multiple polyadenylation sites and is statistically associated with a higher rate of depressive disorders.
Decreased methylation in the promoter of the FKBP5 gene has been observed in blood samples from patients with neurodegenerative diseases.
FKBP51 Ligands
As a key player in several diseases like stress-related disorders, chronic pain, and obesity, FKBP51 is an attractive drug target. SAFit2 currently the most best characterized FKBP51 ligand, has shown promising effects in numerous animal models. Macrocyclic FKBP51-selecti |
https://en.wikipedia.org/wiki/FNTA | Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha is an enzyme that in humans is encoded by the FNTA gene.
Prenyltransferases attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of protein's with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants encoding different isoforms.
Interactions
FNTA has been shown to interact with TGF beta receptor 1.
References
Further reading
External links |
https://en.wikipedia.org/wiki/GNAZ | Guanine nucleotide-binding protein G(z) subunit alpha is a protein that in humans is encoded by the GNAZ gene.
Function
The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systems. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids.
Interactions
GNAZ has been shown to interact with EYA2, RGS20 and RGS19.
References
Further reading |
https://en.wikipedia.org/wiki/Homeobox%20A1 | Homeobox protein Hox-A1 is a protein that in humans is encoded by the HOXA1 gene.
Gene
Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.
Function
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and cellular differentiation. The homeobox protein Hox-A1 may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development.
Clinical significance
A common polymorphism in the HOXA1 gene is associated with a susceptibility to autism spectrum disorder, with individuals possessing these gene variant have an approximately doubled risk of developing the disorder. Studies on knockout mice have indicated that the gene can alter embryological development of the brain stem (specifically the facial and superior olivary nuclei), as well as induce several other physical changes such as in ear shape. Both of these sets of changes can also be seen in patients with autism.
Other HOXA1 mutations are associated with Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan bra |
https://en.wikipedia.org/wiki/HSD17B4 | D-bifunctional protein (DBP), also known as peroxisomal multifunctional enzyme type 2 (MFP-2), as well as 17β-hydroxysteroid dehydrogenase type IV (17β-HSD type IV) is a protein that in humans is encoded by the HSD17B4 gene. It's an alcohol oxidoreductase, specifically 17β-Hydroxysteroid dehydrogenase. It is involved in fatty acid β-oxidation and steroid metabolism (cf. steroidogenesis).
Function
The HSD17B4 gene encodes an enzyme involved in peroxisomal fatty acid beta-oxidation. It was first identified as a 17-beta-estradiol dehydrogenase (Leenders et al., 1996; van Grunsven et al., 1998). Peroxisomal beta-oxidation of fatty acids, originally described by Lazarow and de Duve (1976), is catalyzed by 3 enzymes: acyl-CoA oxidase (see, e.g., ACOX1, MIM 609751); the 'D-bifunctional enzyme,' with enoyl-CoA hydratase and D-3-hydroxyacyl-CoA dehydrogenase activity, and 3-ketoacyl-CoA thiolase (MIM 604054).
See also the L-bifunctional peroxisomal protein (EHHADH; MIM 607037). The D- and L-bifunctional proteins have different substrate specificities. The D-bifunctional protein catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids and also acts in shortening cholesterol for bile acid formation. In contrast, the L-specific bifunctional protein does not have the latter 2 activities (Jiang et al., 1997).[supplied by OMIM]
See also
D-bifunctional protein deficiency
Perrault syndrome
References
Further reading |
https://en.wikipedia.org/wiki/IGFBP7 | Insulin-like growth factor-binding protein 7 is a protein that in humans is encoded by the IGFBP7 gene. The major function of the protein is the regulation of availability of insulin-like growth factors (IGFs) in tissue as well as in modulating IGF binding to its receptors. IGFBP7 binds to IGF with low affinity compared to IGFBPs 1-6. It also stimulates cell adhesion. The protein is implicated in some cancers.
Interactions
IGFBP7 has been shown to interact with Insulin-like growth factor 1, VPS24, and the IGF-1 receptor (IGF1R).
RNA Editing
The pre-mRNA of this protein is subject to RNA editing.
The two editing sites were previously recorded as single nucleotide polymorphisms in dbSNP.
Editing type
A to I RNA editing is catalyzed by a family of adenosine deaminases acting on RNA (ADARs) that specifically recognize adenosines within double-stranded regions of pre-mRNAs and deaminate them to inosine. Inosines are recognised as guanosine by the cell's translational machinery. There are three members of the ADAR family ADARs 1-3 with ADAR 1 and ADAR 2 being the only enzymatically active members. ADAR3 is thought to have a regulatory role in the brain. ADAR1 and ADAR 2 are widely expressed in tissues while ADAR 3 is restricted to the brain. The double stranded regions of RNA are formed by base-pairing between residues in the close to region of the editing site with residues usually in a neighboring intron but can be an exonic sequence. The region that base pairs with the e |
https://en.wikipedia.org/wiki/Interleukin%205%20receptor%20alpha%20subunit | Interleukin 5 receptor, alpha (IL5RA) also known as CD125 (Cluster of Differentiation 125) is a subunit of the Interleukin-5 receptor. IL5RA also denotes its human gene.
Function
The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is composed of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Six alternatively spliced transcript variants encoding three distinct isoforms have been reported.
Interactions
Interleukin 5 receptor alpha subunit has been shown to interact with:
Interleukin 5,
Janus kinase 2,
Protein unc-119 homolog, and
SDCBP
See also
Cluster of differentiation
Benralizumab
Mepolizumab
Reslizumab
References
Further reading
External links
Clusters of differentiation |
https://en.wikipedia.org/wiki/KCNA4 | Potassium voltage-gated channel subfamily A member 4 also known as Kv1.4 is a protein that in humans is encoded by the KCNA4 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.
Description
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1 in humans.
KCNA4 (Kv1.4) contains a tandem inactivation domain at the N terminus. It is composed of two subdomains. Inactivation domain 1 (ID1, residue |
https://en.wikipedia.org/wiki/KCNN4 | Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4, also known as KCNN4, is a human gene encoding the KCa3.1 protein.
Function
The KCa3.1 protein is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily.
History
The channel activity was first described in 1958 by György Gárdos in human erythrocytes. The channel is also named Gardos channel because of its discoverer.
See also
SK channel
Voltage-gated potassium channel
Senicapoc
References
Further reading
Ion channels |
https://en.wikipedia.org/wiki/KIR2DL4 | Killer cell immunoglobulin-like receptor 2DL4 is a protein that in humans is encoded by the KIR2DL4 gene.
Function
Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of CD8+ T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR2DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternative splicing results in multiple transcript variants.
The only so far reported ligand of KIR2DL4 is the non-classical HLA class 1 gene HLA-G, leading to the inhibi |
https://en.wikipedia.org/wiki/MAP1B | Microtubule-associated protein 1B is a protein that in humans is encoded by the MAP1B gene.
Function
This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. Two alternatively spliced transcript variants have been described.
Interactions
MAP1B has been shown to interact with Acidic leucine-rich nuclear phosphoprotein 32 family member A and RASSF1.
References
Further reading |
https://en.wikipedia.org/wiki/MEIS1 | Homeobox protein Meis1 is a protein that in humans is encoded by the MEIS1 gene.
Function
Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins.
Interactions
MEIS1 has been shown to interact with PBX1 and HOXA9.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/MID1 | MID1 is a protein that belongs to the Tripartite motif family (TRIM) and is also known as TRIM18. The MID1 gene is located on the short arm of the X chromosome and loss-of-function mutations in this gene are causative of the X-linked form of a rare developmental disease, Opitz G/BBB Syndrome.
The MID1 gene and its product
The human MID1 gene is located on the short arm of the X chromosome (Xp22.2) and includes 9 coding exons, spanning approximately 400 kb of the genome. Upstream to the first coding exon, the MID1 gene employs alternative 5’ untranslated exons and at least five alternative promoters that drive the transcription of the gene, resulting in several MID1 transcript isoforms. The MID1 gene encodes a 667 amino acid protein that belongs to the TRIM family. MID1 protein consists of a conserved N-terminal tripartite module composed of a RING domain, 2 B-Box domains (B-box 1 and B-box 2) and a coiled-coil region. Within the TRIM family, MID1 belongs to the C-I subgroup characterised by the presence, downstream to the tripartite motif, of a COS domain, a Fibronectin type III (FN3) repeat and a PRY-SPRY domain.
MID1 main cellular functions
MID1 as an E3 ubiquitin ligase
MID1 is a microtubular protein that acts as an ubiquitin E3 ligase in vitro and in cells. Ubiquitination is a type of post-translational modification in which the transfer of one or several ubiquitin peptide molecules to substrates determines their stability and/or activity. The MID1 E3 ubiquitin ligas |
https://en.wikipedia.org/wiki/NPHP1 | Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene.
Function
This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.
Interactions
NPHP1 has been shown to interact with BCAR1, PTK2B, Filamin and INVS.
References
Further reading |
https://en.wikipedia.org/wiki/ORC2 | Origin recognition complex subunit 2 is a protein that is encoded by the ORC2 (ORC2L) gene in humans.
Function
The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, ORC4, and ORC5. It also interacts with CDC45L and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication.
Interactions
ORC2 has been shown to interact with:
CDC6,
DBF4,
MCM10,
MCM2
MCM4,
MCM5,
MCM6,
MCM7,
ORC1,
ORC3,
ORC4,
ORC5,
ORC6, and
Replication protein A1.
References
Further reading
External links
PDBe-KB provides an overview of all the structure information available in the PDB for Human Origin recognition complex subunit 2 (ORC2) |
https://en.wikipedia.org/wiki/PCSK5 | Proprotein convertase subtilisin/kexin type 5 is an enzyme that in humans is encoded by the PCSK5 gene, found in chromosome 9q21.3 Two alternatively spliced transcripts are described for this gene but only one has its full length nature known.
Function
The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein mediates posttranslational endoproteolytic processing for several integrin alpha subunits. It is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160.
Clinical significance
Mutations in this gene have been associated with Currarino syndrome-like malformations.
References
Further reading |
https://en.wikipedia.org/wiki/PLCB2 | 1-Phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-2 is an enzyme that in humans is encoded by the PLCB2 gene.
Function
The gene codes for the enzyme phospholipase C β2. The enzyme catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11, as well as G-beta gamma subunits.
Interactions
PLCB2 has been shown to interact with MAP2K3 and TRPM7.
References
Further reading
EC 3.1.4 |
https://en.wikipedia.org/wiki/Sirtuin%202 | NAD-dependent deacetylase sirtuin 2 is an enzyme that in humans is encoded by the SIRT2 gene. SIRT2 is an NAD+ (nicotinamide adenine dinucleotide)-dependent deacetylase. Studies of this protein have often been divergent, highlighting the dependence of pleiotropic effects of SIRT2 on cellular context. The natural polyphenol resveratrol is known to exert opposite actions on neural cells according to their normal or cancerous status. Similar to other sirtuin family members, SIRT2 displays a ubiquitous distribution. SIRT2 is expressed in a wide range of tissues and organs and has been detected particularly in metabolically relevant tissues, including the brain, muscle, liver, testes, pancreas, kidney, and adipose tissue of mice. Of note, SIRT2 expression is much higher in the brain than all other organs studied, particularly in the cortex, striatum, hippocampus, and spinal cord.
Function
Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. Cytosolic functions of SIRT2 include the regulation of microtubule acetylation, control of myelination in the central and peripheral nervous system and gluconeogenesis. There is growing evidence for additional functions of SIRT2 in the nucleus. During the G2/M transition, nuclear SIRT2 is responsible for global deacetylation of H4K16, facilitating H4K20 methylation and subsequent chromatin compaction. In response to DNA damage, SIRT2 was also found to deacetylate |
https://en.wikipedia.org/wiki/PSME4 | Proteasome activator complex subunit 4 is a protein that in humans is encoded by the PSME4 gene.
References
Further reading |
https://en.wikipedia.org/wiki/PRKD3 | Serine/threonine-protein kinase D3 (PKD3) or PKC-nu is an enzyme that in humans is encoded by the PRKD3 gene.
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. This kinase can be activated rapidly by the agonists of G protein-coupled receptors. It resides in both cytoplasm and nucleus, and its nuclear accumulation is found to be dramatically enhanced in response to its activation. This kinase can also be activated after B-cell antigen receptor (BCR) engagement, which requires intact phospholipase C gamma and the involvement of other PKC family members.
References
Further reading
EC 2.7.11 |
https://en.wikipedia.org/wiki/Atlastin-1 | Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.
References
External links
GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A
Further reading
Genes on human chromosome 14 |
https://en.wikipedia.org/wiki/BCKDHA | A 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial is an enzyme that in humans is encoded by the BCKDHA gene.
BCKDHA is a coding gene that is part of the BCKD complex (branched-chain alpha-keto acid dehydrogenase).
Discovery
BCKDHA was discovered by John Menkes in 1954. After he had seen a family with four children die only a few months after birth, he found that their urine smelled sweet like maple syrup. While he was not the one to discover the specific gene, he did discover the maple syrup urine disease(MSUD). The BCKD complex is made up of three different catalytic pieces. It was in 1960 when Dancis discovered the gene itself, but this was from Menkes discovering of the disease leading to further investigation of its origin. He found that looking at the branched-chain amino acids and their corresponding alpha-keto acids in turn aided in the realization that they were pathogenetic compounds. Dancis was the one to specifically track down the enzymatic defect in (MSUD) by finding what gene in the pool of human chromosomes was defecting the urine. He found the gene on the level of the decarboxylation of the branched-chain amino acids.
Gene location
The cytogenetic location of BCKDHA is on the human chromosome 19, specifically on the cytogenetic band at 19q13.2. This the long arm (q) of the chromosome 19 at 13.2. Looking at the molecular location, the base pairs 41,397,789 to 41,425,005 are on chromosome 19. The cellular localization of this gene is within the |
https://en.wikipedia.org/wiki/PPP1R8 | Nuclear inhibitor of protein phosphatase 1 is an enzyme that in humans is encoded by the PPP1R8 gene.
This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA.
Interactions
PPP1R8 has been shown to interact with PPP1CA, Histone deacetylase 2, SF3B1 EED and the EZH2 domain of PRC2.
References
Further reading |
https://en.wikipedia.org/wiki/PRKACB | cAMP-dependent protein kinase catalytic subunit beta is an enzyme that in humans is encoded by the PRKACB gene.
cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the protein kinase A (PKA), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of PKA is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of PKA have been identified in humans. The protein encoded by this gene is a member of the serine/threonine protein kinase family and is a catalytic subunit of PKA. Three alternatively spliced transcript variants encoding distinct isoforms have been observed.
Interactions
PRKACB has been shown to interact with Ryanodine receptor 2 and Low affinity nerve growth factor receptor.
References
Further reading
EC 2.7.11 |
https://en.wikipedia.org/wiki/PROP1 | Homeobox protein prophet of PIT-1 is a protein that in humans is encoded by the PROP1 gene.
PROP1 has both DNA-binding and transcriptional activation ability. Its expression leads to ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes, and caudomedial thyrotropes. Inactivating mutations in PROP1 result in deficiencies of luteinizing hormone (LH; MIM 152780), follicle-stimulating hormone (FSH; MIM 136530), growth hormone (GH; MIM 139250), prolactin (PRL; MIM 176760), and thyroid-stimulating hormone (TSH; MIM 188540). See combined pituitary hormone deficiency (CPHD; MIM 262600).[supplied by OMIM]
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on PROP1- Related Combined Pituitary Hormone Deficiency (CPHD)
Transcription factors |
https://en.wikipedia.org/wiki/KLK10 | Kallikrein-10 is a protein that in humans is encoded by the KLK10 gene.
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein.
References
Further reading
External links
The MEROPS online database for peptidases and their inhibitors: S01.246 |
https://en.wikipedia.org/wiki/RAD51L1 | DNA repair protein RAD51 homolog 2 is a protein that in humans is encoded by the RAD51L1 gene.
Function
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed.
Interactions
RAD51L1 has been shown to interact with RAD51C.
References
Further reading |
https://en.wikipedia.org/wiki/RALGDS | Ral guanine nucleotide dissociation stimulator is a protein that is encoded by the RALGDS gene in humans.
Interactions
RALGDS has been shown to interact with:
Arrestin beta 1,
Arrestin beta 2,
HRAS,
KRAS,
MRAS,
RAP1A,
RAP2A,
RAPGEF2, and
RRAS.
References
Further reading |
https://en.wikipedia.org/wiki/RPE65 | Retinal pigment epithelium-specific 65 kDa protein, also known as retinoid isomerohydrolase, is an enzyme of the vertebrate visual cycle that is encoded in humans by the RPE65 gene. RPE65 is expressed in the retinal pigment epithelium (RPE, a layer of epithelial cells that nourish the photoreceptor cells) and is responsible for the conversion of all-trans-retinyl esters to 11-cis-retinol during phototransduction. 11-cis-retinol is then used in visual pigment regeneration in photoreceptor cells. RPE65 belongs to the carotenoid oxygenase family of enzymes.
Function
RPE65 is a critical enzyme in the vertebrate visual cycle found in the retinal pigmented epithelium. It is also found in rods and cones. The photoisomerization of 11-cis-retinal to all-trans-retinal initiates the phototransduction pathway through which the brain detects light. All-trans-retinol is not photoactive and therefore must be reconverted to 11-cis-retinal before it can recombine with opsin to form an active visual pigment. RPE65 reverses the photoisomerization by converting an all-trans-retinyl ester to 11-cis-retinol. Most commonly, the ester substrate is retinyl palmitate. The other enzymes of the visual cycle complete the reactions necessary to oxidize and esterify all-trans-retinol to a retinyl ester (RPE65's substrate) and to oxidize 11-cis-retinol to 11-cis-retinal (the required photoactive visual pigment component).
RPE65 is also referred to as retinol isomerase or retinoid isomerase, owing to p |
https://en.wikipedia.org/wiki/60S%20ribosomal%20protein%20L10 | 60S ribosomal protein L10 is a protein that in humans is encoded by the RPL10 gene.
Function
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L10E family of ribosomal proteins. It is located in the cytoplasm. In vitro studies have shown that the chicken protein can bind to c-Jun and can repress c-Jun-mediated transcriptional activation, but these activities have not been demonstrated in vivo. This gene was initially identified as a candidate for a Wilms tumor suppressor gene, but later studies determined that this gene is not involved in the suppression of Wilms tumor. This gene has been referred to as 'laminin receptor homolog' because a chimeric transcript consisting of sequence from this gene and sequence from the laminin receptor gene was isolated; however, it is not believed that this gene encodes a laminin receptor. Transcript variants utilizing alternative polyA signals exist. The variant with the longest 3' UTR overlaps the deoxyribonuclease I-like 1 gene on the opposite strand. This gene is co-transcribed with the small nucleolar RNA gene U70, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispe |
https://en.wikipedia.org/wiki/40S%20ribosomal%20protein%20S27a | 40S ribosomal protein S27a is a protein that in humans is encoded by the RPS27A gene.
Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi.
References
Further reading
Ribosomal proteins |
https://en.wikipedia.org/wiki/CLIP1 | CAP-GLY domain containing linker protein 1, also known as CLIP1, is a protein which in humans is encoded by the CLIP1 gene.
Interactions
CLIP1 has been shown to interact with IQGAP1, Mammalian target of rapamycin and PAFAH1B1.
References
External links
Further reading |
https://en.wikipedia.org/wiki/SLC22A4 | Solute carrier family 22, member 4, also known as SLC22A4, is a human gene; the encoded protein is known as the ergothioneine transporter.
Function
The encoded protein is an integral protein of the plasma membrane containing 12 transmembrane segments. The first functional designation of this protein was OCTN1 ("organic cation transporter, novel, type 1"), but efficiency of transport for organic cations (e.g., tetraethylammonium) is very low. The transport efficiency for carnitine is also negligible. Instead, the protein is responsible for the cotransport of sodium ions and ergothioneine, which is an antioxidant, into cells. Thus, a more appropriate functional designation is ETT ("ergothioneine transporter").
Interactions
SLC22A4 has been shown to interact with PDZK1.
See also
Solute carrier family
References
Further reading
Solute carrier family |
https://en.wikipedia.org/wiki/SMARCC1 | SWI/SNF complex subunit SMARCC1 is a protein that in humans is encoded by the SMARCC1 gene.
Function
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SWI/SNF and contains a predicted leucine zipper motif typical of many transcription factors.
Interactions
SMARCC1 has been shown to interact with:
BAZ1B,
ING1,
SIN3A,
SMARCA2,
SMARCA4, and
SMARCB1.
References
Further reading
External links |
https://en.wikipedia.org/wiki/SNRPD3 | Small nuclear ribonucleoprotein Sm D3 is a protein that in humans is encoded by the SNRPD3 gene.
Function
The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis.
Interactions
SNRPD3 has been shown to interact with:
CDC5L,
CLNS1A,
DDX20, and
Protein arginine methyltransferase 5.
References
Further reading |
https://en.wikipedia.org/wiki/SRPK1 | Serine/arginine-Rich Splicing Factor (SRSF) protein kinase-1 SRPK1 is an enzyme that in humans is encoded by the SRPK1 gene.
Function
This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. A second alternatively spliced transcript variant for this gene has been described, but its full length nature has not been determined.
SRPK1 enables angiogenesis, which is regulated by VEGF, which either initiates or inhibits vessel formation depending on alternative splicing.
Medical applications
Some cancers are vascular endothelial growth factor (VEGF) dependant (for angiogenesis). SRPK1 activates (phosphorylates) VEGF splicing factor. SRPK1 inhibitors (e.g. 'SPHINX compounds' ) are under investigation as treatments for prostate cancer, acute myeloid leukemia and neovascular eye disease.
Interactions
SRPK1 has been shown to interact with:
ASF/SF2 and
SNRP70.
C6orf201
References
Further reading |
https://en.wikipedia.org/wiki/TAF4 | Transcription initiation factor TFIID subunit 4 is a protein that in humans is encoded by the TAF4 gene.
Function
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases.
Interactions
TAF4 has been shown to interact with:
CBX5m
T |
https://en.wikipedia.org/wiki/ZEB1 | Zinc finger E-box-binding homeobox 1 is a protein that in humans is encoded by the ZEB1 gene.
ZEB1 (previously known as TCF8) encodes a zinc finger and homeodomain transcription factor that represses T-lymphocyte-specific IL2 gene expression by binding to a negative regulatory domain 100 nucleotides 5-prime of the IL2 transcription start site. ZEB1 and its mammalian paralog ZEB2 belongs to the Zeb family within the ZF (zinc finger) class of homeodomain transcription factors. ZEB1 protein has 7 zinc fingers and 1 homeodomain. The structure of the homeodomain is shown on the right.
Clinical significance
Mutations of the gene are linked to posterior polymorphous corneal dystrophy 3. ZEB1 downregulates E-cadherin and induces epithelial to mesenchymal transition in breast and other carcinomas A recent study suggested its contributing role in lung cancer invasiveness and metastasis development. Overexpression of ZEB1 has been identified as a potential risk factor for recurrence and poor prognosis in several types of cancers.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/Teratocarcinoma-derived%20growth%20factor%201 | Teratocarcinoma-derived growth factor 1 is a protein that in humans is encoded by the TDGF1 gene. The protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants.
References
Further reading
See also
Cripto |
https://en.wikipedia.org/wiki/CLDN5 | Claudin-5 is a protein that in humans is encoded by the CLDN5 gene. It belongs to the group of claudins.
Function
This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome.
Interactions
CLDN5 has been shown to interact with CLDN1 and CLDN3.
References
External links
Further reading |
https://en.wikipedia.org/wiki/TNNI1 | Troponin I, slow skeletal muscle is a protein that in humans is encoded by the TNNI1 gene. It is a tissue-specific subtype of troponin I, which in turn is a part of the troponin complex.
Gene TNNI1, troponin I type 1 (skeletal muscle, slow), also known as TNN1 and SSTNI, is located at 1q31.3 in the human chromosomal genome, encoding the slow twitch skeletal muscle isoform of troponin I (ssTnI), the inhibitory subunit of the troponin complex in striated muscle myofilaments. Human TNNI1 spans 12.5 kilobases in the genomic DNA and contains 9 exons and 8 introns. Exon 2 to exon 8 contain the coding sequences, encoding a protein of 21.7 kDa consisting of 187 amino acids including the first methionine with an isoelectric point (pI) of 9.59.
Gene evolution
Three homologous genes have evolved in vertebrates, encoding three muscle type-specific isoforms of TnI. In mammals, the amino acid sequence of ssTnI is highly conserved. Mouse and bovine ssTnI each differs from human ssTnI in only four amino acids, and rhesus monkey ssTnI is identical to human in the amino acid sequences. In lower vertebrates, the divergence of ssTnI between species is larger than that in the higher vertebrates (Fig1).
Tissue distribution
Comparing with the fast twitch skeletal muscle and cardiac TnI isoform genes (TNNT2 and TNNT3), TNNI1 has a broader range of expression in avian and mammalian striated muscles. It is the predominant TnI isoform expressed in both slow skeletal muscle and cardiac muscle in |
https://en.wikipedia.org/wiki/Alpha-tubulin%203C | Tubulin alpha-3C/D chain is a protein that in humans is encoded by the TUBA3C gene.
Function
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. Alternative splicing has been observed for this gene and two variants have been identified.
Interactions
Alpha-tubulin 3C has been shown to interact with FYN and NMI.
References
External links
Further reading |
https://en.wikipedia.org/wiki/ENAH%20%28gene%29 | Protein enabled homolog is a protein that in humans is encoded by the ENAH gene.
Interactions
ENAH has been shown to interact with ABI1, ZYX, and PCARE.
References
Further reading
EVH1 domain |
https://en.wikipedia.org/wiki/ANKH | Progressive ankylosis protein homolog (ANK ilosis H omolog) is a protein that in humans is encoded by the ANKH gene.
This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Mutation at the mouse 'progressive ankylosis' (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. The human homolog is virtually identical to the mouse protein and ANKH-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.
References
External links
GeneReviews/NCBI/NIH/UW entry on Craniometaphyseal Dysplasia
Further reading |
https://en.wikipedia.org/wiki/PARD3 | Partitioning defective 3 homolog is a protein that in humans is encoded by the PARD3 gene.
Function
PARD proteins, which were first identified in C. elegans, are essential for asymmetric cell division and polarized growth, whereas CDC42 (MIM 116952) mediates the establishment of cell polarity. The CDC42 GTPase, which is controlled by nucleotide exchange factors (GEFs; see MIM 606057) and GTPase-activating proteins (GAPs; see MIM 604980), interacts with a large set of effector proteins that typically contain a CDC42/RAC (MIM 602048)-interactive binding (CRIB) domain.[supplied by OMIM]
Interactions
PARD3 has been shown to interact with:
JAM2,
JAM3,
PRKCI, and
PVRL3.
References
Further reading |
https://en.wikipedia.org/wiki/Mucin%205B | Mucin-5B (MUC-5B) is a protein that in humans is encoded by the MUC5B gene
and by Muc5b gene in mouse. It is one of the five gel-forming mucins. MUC-5B can be found in whole saliva, normal lung mucus, and cervical mucus. In some diseases such as COPD, chronic rhinosinusitis (CRS), and H. pylori-associated gastric disease.
Synthesis
All mucins are synthesized in secretory cells known, dependent on the tissue they are located in, as goblet cells or mucous cells. Their creation, while still not completely understood, begins in the endoplasmic reticulum. From there, the Golgi apparatus build the O-linked glycans found in mucins. Finally, they are packaged into secretory granules.
References
05B |
https://en.wikipedia.org/wiki/AP1B1 | AP-1 complex subunit beta-1 is a protein that in humans is encoded by the AP1B1 gene.
Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Two transcript variants encoding different isoforms have been found for this gene, and variants utilizing alternative polyadenylation signals exist.
Interactions
AP1B1 has been shown to interact with KIF13A and AP1G1.
References
Further reading
External links |
https://en.wikipedia.org/wiki/AP2B1 | AP-2 complex subunit beta is a protein that in humans is encoded by the AP2B1 gene.
Function
The protein encoded by this gene is one of two large chain components of the AP2 adaptor complex, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene.
Interactions
AP2B1 has been shown to interact with:
AP1M2,
Arrestin beta 2,
BUB1B,
LDLRAP1 and
TGF beta receptor 2.
References
Further reading
External links |
https://en.wikipedia.org/wiki/CDC2L1 | PITSLRE serine/threonine-protein kinase CDC2L1 is an enzyme that in humans is encoded by the CDC2L1 gene.
This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L2, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L2, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L2 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Several alternatively spliced variants of this gene have been reported.
Interactions
CDC2L1 has been shown to interact with Cyclin D3.
References
External links
Further reading
EC 2.7.11 |
https://en.wikipedia.org/wiki/CHRNB4 | Neuronal acetylcholine receptor subunit beta-4 is a protein that in humans is encoded by the CHRNB4 gene.
Interactive pathway map
See also
Nicotinic acetylcholine receptor
References
Further reading
External links
Ion channels
Nicotinic acetylcholine receptors |
https://en.wikipedia.org/wiki/PLK3 | Polo-like kinase 3 (Drosophila), also known as PLK3, is an enzyme which in humans is encoded by the PLK3 gene.
Function
Cytokine-inducible kinase is a putative serine/threonine kinase. CNK contains both a catalytic domain and a putative regulatory domain. It may play a role in regulation of cell cycle progression and tumorigenesis.
Interactions
PLK3 has been shown to interact with:
CDC25C,
CHEK2, and
P53.
References
Further reading
EC 2.7.11 |
https://en.wikipedia.org/wiki/CLDN3 | Claudin 3, also known as CLDN3, is a protein which in humans is encoded by the CLDN3 gene. It is a member of the claudin protein family.
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are composed of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intron-less gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares amino acid sequence similarity with a putative apoptosis-related protein found in rat.
Interactions
CLDN3 has been shown to interact with CLDN1 and CLDN5.
References
External links
Further reading |
https://en.wikipedia.org/wiki/DBT%20%28gene%29 | Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.
The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
References
Further reading
Mitochondrial proteins |
https://en.wikipedia.org/wiki/Ubiquitin%20A-52%20residue%20ribosomal%20protein%20fusion%20product%201 | 60S ribosomal protein L40 (RPL40) is a protein that in humans is encoded by the UBA52 gene.
Function
Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N-terminus and ribosomal protein L40 at the C-terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome.
References
Further reading |
https://en.wikipedia.org/wiki/CUL5 | Cullin-5 is a protein that in humans is encoded by the CUL5 gene.
Discovery
The mammalian gene product was originally discovered by expression cloning, due to the protein's ability to mobilize intracellular calcium in response to the peptide hormone arginine vasopressin. It was first titled VACM-1, for vasopressin-activated, calcium-mobilizing receptor. Since then, VACM-1 has been shown to be homologous to the Cullin family of proteins, and was subsequently dubbed cul5.
Tissue distribution
Studies have shown that the cul5 protein is expressed at its highest levels in heart and skeletal tissue, and is specifically expressed in vascular endothelium and renal collecting tubules.
Function
Cul5 inhibits cellular proliferation, potentially through its involvement in the SOCS/ BC-box/ eloBC/ cul5/ RING E3 ligase complex, which functions as part of the ubiquitin system for protein degradation.
One study have shown that Cul5 plays a role in Reelin signaling cascade, participating in the DAB1 degradation and thus ensuring the negative feedback mechanism of Reelin signaling during corticogenesis.
Interactions
CUL5 has been shown to interact with RBX1.
References
External links
Further reading |
https://en.wikipedia.org/wiki/FXR1 | Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene.
The protein encoded by this gene is an RNA binding protein that interacts with the functionally similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene.
Interactions
FXR1 has been shown to interact with FXR2, FMR1 and CYFIP2.
References
Further reading |
https://en.wikipedia.org/wiki/USP9Y | Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila), also known as USP9Y, is an enzyme which in humans is encoded by the USP9Y gene. It is required for sperm production. This enzyme is a member of the peptidase C19 family and is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins.
Clinical significance
Mutations in this gene have been associated with Sertoli cell-only syndrome (SCO) and male infertility.
The USP9Y gene is found on the azoospermia factor (AZF) region on the Y chromosome. Men who have impaired or no sperm production often have a deletion in the AZF region, especially in the USP9Y gene, and it was thought that USP9Y was necessary for sperm production. However, a man and his father with a USP9Y deletion who could produce sperm were recently reported. The corresponding gene is present but inactive in chimpanzees and bonobos.
References
Further reading |
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