| SPANXB1 |
- |
|
|
Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes …
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| CTSL |
- |
|
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The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. …
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| - |
- |
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-
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| GADD45A |
- |
|
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This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions …
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View
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| ELMO1 |
- |
|
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The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell …
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View
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| - |
- |
|
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-
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View
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| RAP2C |
- |
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-
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View
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| - |
- |
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-
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View
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| - |
- |
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-
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| PCDHB6 |
- |
|
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This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on …
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View
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| SCNN1D |
- |
|
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Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which …
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View
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| DUSP19 |
- |
|
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-
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View
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| - |
- |
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-
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View
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| PSMD6 |
- |
|
|
Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins.
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View
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| - |
- |
|
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-
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View
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| NUP54 |
- |
|
|
The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by …
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| AP3D1 |
- |
|
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AP3D1 is a subunit of the AP3 adaptor-like complex, which is not associated with clathrin. The AP3D1 subunit is implicated …
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| SBF1 |
- |
|
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Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket …
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View
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| - |
- |
|
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-
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View
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| KCNT1 |
- |
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-
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View
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| EPB42 |
- |
|
|
Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It …
|
View
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| CDADC1 |
- |
|
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-
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View
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| MRPS22 |
- |
|
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Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
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View
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| - |
- |
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-
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| IL23R |
- |
|
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The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor …
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| ASRGL1 |
- |
|
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-
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| LRRC51 |
- |
|
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-
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| RRBP1 |
- |
|
|
Analysis of cDNA clones indicates that ribosome binding protein 1 may exist in different forms due to removal of tandem …
|
View
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| DUS2L |
- |
|
|
-
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View
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| TM4SF20 |
- |
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-
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| MYO5A |
- |
|
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Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome …
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|
| ZNF557 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| EVA1 |
- |
|
|
Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like …
|
View
|
| C9orf85 |
- |
|
|
-
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View
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| - |
- |
|
|
-
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View
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| - |
- |
|
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-
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View
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| FANCE |
- |
|
|
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and …
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View
|
| KRTAP4-10 |
- |
|
|
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate …
|
View
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| - |
- |
|
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-
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View
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| C16orf48 |
- |
|
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-
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View
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| TFCP2 |
- |
|
|
-
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View
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| PDHX |
- |
|
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The PDHX gene encodes component X of the pyruvate dehydrogenase (PDH) complex. For a detailed description of the pyruvate dehydrogenase …
|
View
|
| ANPEP |
- |
|
|
Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small …
|
View
|
| TCIRG1 |
- |
|
|
Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded …
|
View
|
| RAET1E |
- |
|
|
Members of the RAET1 family, such as RAET1E, are major histocompatibility complex (MHC) class I-related genes located within a 180-kb …
|
View
|
| MUC5AC |
- |
|
|
Major airway glycoprotein.
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View
|
| ZNF24 |
- |
|
|
May function as a transcription factor. Seems to repress transcription.
|
View
|
| FABP6 |
- |
|
|
FABP6 encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic …
|
View
|
| TNFRSF13C |
- |
|
|
B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of …
|
View
|
| VPREB3 |
- |
|
|
The VPREB3 gene product is the human homologue of the mouse VpreB3 (8HS20) protein, and is specifically expressed in cell …
|
View
|
| C20orf166 |
- |
|
|
-
|
View
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| C21orf116 |
- |
|
|
-
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View
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| ESCO2 |
- |
|
|
This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid …
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View
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| PNMA3 |
- |
|
|
-
|
View
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| HIST3H3 |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist …
|
View
|
| ZNF287 |
- |
|
|
This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. …
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View
|
| TNKS |
- |
|
|
May regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles. Has PARP activity and can modify TERF1, and thereby …
|
View
|
| - |
- |
|
|
-
|
View
|
| CD79B |
- |
|
|
The B lymphocyte antigen receptor is a multimeric complex which includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently …
|
View
|
| SPA17 |
- |
|
|
This gene encodes a protein present at the cell surface. Studies in rabbit suggest that in sperm the protein is …
|
View
|
| TRPV4 |
- |
|
|
This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) …
|
View
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| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
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| BICD1 |
- |
|
|
This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from …
|
View
|
| PRKCI |
- |
|
|
The protein encoded by this gene belongs to the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC …
|
View
|
| SNED1 |
- |
|
|
-
|
View
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| CTRB1 |
- |
|
|
Alpha-chymotrypsin (EC 3.4.21.1) is one of a family of serine proteases secreted into the gastrointestinal tract as the inactive precursor …
|
View
|
| RPS24 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| S100A7 |
- |
|
|
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. …
|
View
|
| NXPH4 |
- |
|
|
May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors (Potential).
|
View
|
| GPR77 |
- |
|
|
Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a, C4a and C3a and their des arginated derivatives. Couples weakly to …
|
View
|
| ADCYAP1R1 |
- |
|
|
This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with …
|
View
|
| CEBPD |
- |
|
|
The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain …
|
View
|
| PLIN |
- |
|
|
The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken …
|
View
|
| ZNF629 |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| NNT |
- |
|
|
NNT is a pyridine nucleotide transhydrogenase (EC 1.6.1.1). These integral inner mitochondrial membrane proteins are part of the energy-transfer system …
|
View
|
| NEDD9 |
- |
|
|
Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May function in transmitting growth …
|
View
|
| ETV5 |
- |
|
|
Binds to DNA sequences containing the consensus nucleotide core sequence GGAA.
|
View
|
| ZNF41 |
- |
|
|
This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as …
|
View
|
| PGLYRP4 |
- |
|
|
Peptidoglycan recognition proteins, such as PGRPI-beta, are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of …
|
View
|
| ADRA1B |
- |
|
|
Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation …
|
View
|
| PFKL |
- |
|
|
Phosphofructokinase (PFK) is a tetrameric enzyme that catalyzes a key step in glycolysis, namely the conversion of D-fructose 6-phosphate to …
|
View
|
| XCL2 |
- |
|
|
Chemotactic activity for lymphocytes but not for monocytes or neutrophils (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| TNFSF4 |
- |
|
|
The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This …
|
View
|
| NRGN |
- |
|
|
Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate …
|
View
|
| - |
- |
|
|
-
|
View
|
| MTMR9 |
- |
|
|
This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it …
|
View
|
| ALOX15B |
- |
|
|
This enzyme is involved in arachidonic acid metabolism in some epithelial tissues. The protein is similar to human 5S-, 12S-, …
|
View
|
| COX6B1 |
- |
|
|
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c …
|
View
|
| - |
- |
|
|
-
|
View
|
| PPIL1 |
- |
|
|
This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous …
|
View
|
| MMP3 |
- |
|
|
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such …
|
View
|
| ZNF443 |
- |
|
|
Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and …
|
View
|
| OR2F1 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| CDK5RAP3 |
- |
|
|
Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and …
|
View
|
| MAN2A2 |
- |
|
|
Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; …
|
View
|
| IL4R |
- |
|
|
This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 …
|
View
|
| - |
- |
|
|
-
|
View
|
| ATP6V1E1 |
- |
|
|
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase …
|
View
|
| IL1RAP |
- |
|
|
Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex …
|
View
|
| ASXL1 |
- |
|
|
In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in …
|
View
|
| LRBA |
- |
|
|
Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) suffer from a systemic immunodeficiency involving defects in polarized trafficking of vesicles in …
|
View
|
| ATXN7L1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SUMF2 |
- |
|
|
May convert newly synthesized inactive sulfatases to their active form by modifying an active site cysteine residue to 3-oxoalanine.
|
View
|
| - |
- |
|
|
-
|
View
|
| PRPSAP1 |
- |
|
|
Seems to play a negative regulatory role in PRPP synthesis.
|
View
|
| C20orf85 |
- |
|
|
-
|
View
|
| CYB561D1 |
- |
|
|
-
|
View
|
| COLEC11 |
- |
|
|
-
|
View
|
| KLK15 |
- |
|
|
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in …
|
View
|
| MRPL19 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| TRIM68 |
- |
|
|
The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HLA-DQB1 |
- |
|
|
HLA-DQB1 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an …
|
View
|
| ASH2L |
- |
|
|
Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates Lys-4 of histone H3, but not if …
|
View
|
| FRAT1 |
- |
|
|
The protein encoded by this gene belongs to the GSK-3-binding protein family. It may function in tumor progression and in …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF336 |
- |
|
|
May function as a transcription factor.
|
View
|
| ANKRD10 |
- |
|
|
-
|
View
|
| MPP5 |
- |
|
|
Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes …
|
View
|
| PLAC1 |
- |
|
|
-
|
View
|
| TAF6 |
- |
|
|
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these …
|
View
|
| - |
- |
|
|
-
|
View
|
| DDB1 |
- |
|
|
This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer composed of a large and a …
|
View
|
| SUV39H1 |
- |
|
|
SUV39H1, a human homolog of the Drosophila position effect variegation modifier Su(var)3-9 and of the S. pombe silencing factor clr4, …
|
View
|
| - |
- |
|
|
-
|
View
|
| OR2B2 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| - |
- |
|
|
The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to …
|
View
|
| PTPN21 |
- |
|
|
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to …
|
View
|
| - |
- |
|
|
In mammary carcinoma, potential mediator of lung metastasis (By similarity).
|
View
|
| ATP6AP1 |
- |
|
|
This gene encodes a component of a multisubunit enzyme (1 mDa MW) that mediates acidification of eukaryotic intracellular organelles. Vacuolar …
|
View
|
| SNRPF |
- |
|
|
Associated with snRNP U1, U2, U4/U6 and U5.
|
View
|
| B3GALT7 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SOS1 |
- |
|
|
RAS genes (e.g., MIM 190020) encode membrane-bound guanine nucleotide-binding proteins that function in the transduction of signals that control cell …
|
View
|
| ZC3HDC11A |
- |
|
|
-
|
View
|
| ATOH7 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MIA2 |
- |
|
|
May play a role in the pathophysiology of liver disease and may serve as a marker of liver damage.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RYK |
- |
|
|
The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, …
|
View
|
| UBBP2 |
- |
|
|
-
|
View
|
| CCNK |
- |
|
|
The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through …
|
View
|
| HTR1A |
- |
|
|
This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, …
|
View
|
| DNAJC8 |
- |
|
|
-
|
View
|
| FAM5B |
- |
|
|
-
|
View
|
| IL1R2 |
- |
|
|
The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein …
|
View
|
| MAGEC3 |
- |
|
|
This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal …
|
View
|
| - |
- |
|
|
-
|
View
|
| NAV3 |
- |
|
|
-
|
View
|
| TMC7 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MCRS1 |
- |
|
|
Modulates the transcription repressor activity of DAXX by recruiting it to the nucleolus.
|
View
|
| - |
- |
|
|
-
|
View
|
| EDAR |
- |
|
|
Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote …
|
View
|
| ALDH1A2 |
- |
|
|
This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes …
|
View
|
| WDR47 |
- |
|
|
-
|
View
|
| C14orf102 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| FAM47B |
- |
|
|
-
|
View
|
| NDFIP2 |
- |
|
|
-
|
View
|
| OR1A2 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| EFNB1 |
- |
|
|
This gene encodes a member of the ephrin family. The encoded protein is a type I membrane protein and a …
|
View
|
| - |
- |
|
|
-
|
View
|
| COX7A2 |
- |
|
|
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c …
|
View
|
| ABL1 |
- |
|
|
The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, …
|
View
|
| ZNF90 |
- |
|
|
-
|
View
|
| CAMK2D |
- |
|
|
The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium …
|
View
|
| FETUB |
- |
|
|
The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine …
|
View
|
| C9orf59 |
- |
|
|
-
|
View
|
| KCNJ10 |
- |
|
|
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| EXOSC5 |
- |
|
|
Component of the nuclear exosome 3'->5' exoribonuclease complex. Required for the 3'processing of the 7S pre-RNA to the mature 5.8S …
|
View
|
| LGR8 |
- |
|
|
The receptors for glycoprotein hormones such as follicle-stimulating hormone (FSH; see MIM 136530) and thyroid-stimulating hormone (TSH; see MIM 188540) …
|
View
|
| - |
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| CMPK |
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Catalyzes specific phosphoryl transfer from ATP to UMP and CMP.
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| SAP30 |
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Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by …
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| SLC22A1 |
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Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small …
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| GP9 |
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Platelet glycoprotein IX (GP9) is a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 …
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| KIF1C |
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Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end- directed motility.
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| C6orf209 |
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| PGEA1 |
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Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene …
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| HTR1F |
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This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, …
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| HSD3B7 |
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The 3beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is …
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| PYGL |
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Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in …
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| ATP8B3 |
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The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of …
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| CSPG3 |
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Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM]
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