| VPS54 |
- |
|
|
This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for …
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| FEV |
- |
|
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This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain …
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View
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| ABLIM3 |
- |
|
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May act as scaffold protein.
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View
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| CRSP9 |
- |
|
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The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in …
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View
|
| ADAM33 |
- |
|
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This gene encodes a disintegrin and metalloprotease (ADAM) domain 33, which is a member of the ADAM protein family. Members …
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View
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| - |
- |
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-
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View
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| AGTRL1 |
- |
|
|
There are at least two distinct receptor subtypes of angiotensin II: angiotensin II receptor, type 1 (AGTR1) and angiotensin II …
|
View
|
| FKBP10 |
- |
|
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The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase family. It is located in endoplasmic reticulum …
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View
|
| HIST1H3F |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure …
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View
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| RPL5 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
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| - |
- |
|
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-
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View
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| APBB2 |
- |
|
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The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta …
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View
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| SLC30A6 |
- |
|
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-
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View
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| CACNG5 |
- |
|
|
L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, …
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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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View
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| - |
- |
|
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-
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View
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| CABP7 |
- |
|
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-
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View
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| BCL7C |
- |
|
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This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein …
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View
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| ARRDC1 |
- |
|
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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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| KRTAP9-4 |
- |
|
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This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate …
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View
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| BOK |
- |
|
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The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and …
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View
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| NUMB |
- |
|
|
The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, …
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View
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| FUBP1 |
- |
|
|
This gene encodes a ssDNA binding protein that activates the far upstream element (FUSE) of c-myc and stimulates expression of …
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View
|
| KCNV1 |
- |
|
|
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their …
|
View
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| LMTK3 |
- |
|
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-
|
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| SYT7 |
- |
|
|
Synaptotagmins, such as SYT7, are brain-specific calcium-dependent phospholipid-binding proteins that play a role in synaptic exocytosis and neurotransmitter release. See …
|
View
|
| KRTHA3B |
- |
|
|
The protein encoded by this gene is a member of the keratin gene family. It is one of the type …
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|
| ZIC2 |
- |
|
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This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional …
|
View
|
| OAS1 |
- |
|
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This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and …
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View
|
| CSH1 |
- |
|
|
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role …
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View
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| FLNA |
- |
|
|
Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates …
|
View
|
| PIGO |
- |
|
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This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three …
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| ULK4 |
- |
|
|
-
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| NEK11 |
- |
|
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-
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| KIAA1086 |
- |
|
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-
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View
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| RALA |
- |
|
|
The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane …
|
View
|
| SLC10A2 |
- |
|
|
Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine.
|
View
|
| OR1J2 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| AEBP2 |
- |
|
|
-
|
View
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| SLC15A3 |
- |
|
|
-
|
View
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| RPP38 |
- |
|
|
Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'ends. RPP38 may associate transiently …
|
View
|
| NFE2L1 |
- |
|
|
Activates erythroid-specific, globin gene expression.
|
View
|
| POU4F1 |
- |
|
|
Probable transcription factor which may play a role in the regulation of specific gene expression within a subset of neuronal …
|
View
|
| ARFRP1 |
- |
|
|
The protein encoded by this gene is a membrane-associated GTP-ase and localizes to the plasma membrane. It is related to …
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View
|
| FCMD |
- |
|
|
The protein encoded by this gene regulates the migration and assembly of neurons during cortical histogenesis. Fukuyama congenital muscular dystrophy …
|
View
|
| SDC4 |
- |
|
|
The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in …
|
View
|
| PLS3 |
- |
|
|
Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher …
|
View
|
| INPP5E |
- |
|
|
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium …
|
View
|
| SUOX |
- |
|
|
Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and …
|
View
|
| SFTPC |
- |
|
|
-
|
View
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| SSTR4 |
- |
|
|
Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of …
|
View
|
| TGM2 |
- |
|
|
Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of …
|
View
|
| TEAD2 |
- |
|
|
Putative transcription factor that binds to the SPH and GT-IIC enhansons (5'-GTGGAATGT-3'). May be involved in the gene regulation of …
|
View
|
| - |
- |
|
|
-
|
View
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| MTCP1 |
- |
|
|
This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. The gene has two ORFs …
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View
|
| TACC3 |
- |
|
|
The function of this gene has not yet been determined; however, it is speculated that it may be involved in …
|
View
|
| - |
- |
|
|
-
|
View
|
| OR9A1P |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| RBM8A |
- |
|
|
This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it …
|
View
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| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
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| RUFY1 |
- |
|
|
-
|
View
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| SLC9A3R2 |
- |
|
|
NHE3 (SLC9A3; MIM 182307) is a sodium/hydrogen exchanger in the brush border membrane of the proximal tubule, small intestine, and …
|
View
|
| HRB2 |
- |
|
|
-
|
View
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| CBS |
- |
|
|
The protein encoded by this gene is involved in the transsulfuration pathway. The first step of this pathway, from homocysteine …
|
View
|
| WDR45L |
- |
|
|
WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting …
|
View
|
| THAP5 |
- |
|
|
-
|
View
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| SPN |
- |
|
|
Sialophorin (leukosialin) is a major sialoglycoprotein on the surface of human T lymphocytes, monocytes, granulocytes, and some B lymphocytes, which …
|
View
|
| CDKN3 |
- |
|
|
The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent …
|
View
|
| LU |
- |
|
|
Lutheran blood group glycoprotein is a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. …
|
View
|
| GLI2 |
- |
|
|
This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of …
|
View
|
| KIAA1462 |
- |
|
|
-
|
View
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| ATN1 |
- |
|
|
Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is …
|
View
|
| TRIM16 |
- |
|
|
This gene was identified as an estrogen and anti-estrogen regulated gene in epithelial cells stably expressing estrogen receptor. The protein …
|
View
|
| C1orf24 |
- |
|
|
-
|
View
|
| CYLC2 |
- |
|
|
Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin …
|
View
|
| SMCY |
- |
|
|
This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility …
|
View
|
| NID |
- |
|
|
Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It …
|
View
|
| TACC1 |
- |
|
|
The function of this gene has not yet been determined; however, it is speculated that it may represent a breast …
|
View
|
| C20orf58 |
- |
|
|
-
|
View
|
| LDHA |
- |
|
|
Lactate dehydrogenase A catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic …
|
View
|
| - |
- |
|
|
-
|
View
|
| RNF133 |
- |
|
|
The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct …
|
View
|
| - |
- |
|
|
-
|
View
|
| CLEC14A |
- |
|
|
-
|
View
|
| NSD1 |
- |
|
|
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain …
|
View
|
| JPH4 |
- |
|
|
-
|
View
|
| C21orf87 |
- |
|
|
-
|
View
|
| FBXO44 |
- |
|
|
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, …
|
View
|
| UGT1A8 |
- |
|
|
This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, …
|
View
|
| TMED8 |
- |
|
|
-
|
View
|
| PVRL4 |
- |
|
|
-
|
View
|
| OBP2B |
- |
|
|
Probably binds and transports small hydrophobic volatile molecules.
|
View
|
| TWIST2 |
- |
|
|
Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene …
|
View
|
| MFN1 |
- |
|
|
The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of …
|
View
|
| METTL4 |
- |
|
|
-
|
View
|
| PRIMA1 |
- |
|
|
Required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses …
|
View
|
| SAMD9L |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| XRRA1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GNG4 |
- |
|
|
-
|
View
|
| DIRAS3 |
- |
|
|
This gene is a member of the ras superfamily, and is expressed in normal ovarian and breast epithelial cells but …
|
View
|
| - |
- |
|
|
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function.
|
View
|
| - |
- |
|
|
This gene encodes a protein with protease activity. Its specific function has not been determined. The protein may be useful …
|
View
|
| - |
- |
|
|
-
|
View
|
| AIPL1 |
- |
|
|
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited …
|
View
|
| - |
- |
|
|
-
|
View
|
| GTF2A2 |
- |
|
|
TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. …
|
View
|
| TRIM7 |
- |
|
|
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three …
|
View
|
| GPR172B |
- |
|
|
GPCR41 (MIM 607882) and GPCR42 act as receptors for porcine endogenous retrovirus subgroup A (PERV-A).[supplied by OMIM]
|
View
|
| SPATA8 |
- |
|
|
-
|
View
|
| ENPP5 |
- |
|
|
May play a role in neuronal cell communication. Lacks nucleotide pyrophosphatase and lysopholipase D activity (By similarity).
|
View
|
| MRGPRX4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| LRRC39 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MMP14 |
- |
|
|
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such …
|
View
|
| RGS6 |
- |
|
|
Members of the RGS (regulator of G protein signaling) family have been shown to modulate the functioning of G proteins …
|
View
|
| MGLL |
- |
|
|
Converts monoacylglycerides to free fatty acids and glycerol. Hydrolyzes 2-arachidonoylglycerol, a putative endocannabinoid (By similarity).
|
View
|
| SPI1 |
- |
|
|
Binds to the PU-box, a purine-rich DNA sequence (5'- GAGGAA-3') that can act as a lymphoid-specific enhancer. This protein is …
|
View
|
| MYT1 |
- |
|
|
The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The …
|
View
|
| ARL5 |
- |
|
|
The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and …
|
View
|
| DDX1 |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| MLL2 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| APOBEC3D |
- |
|
|
This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes …
|
View
|
| CRI1 |
- |
|
|
-
|
View
|
| AGPS |
- |
|
|
Alkylglycerone phosphate synthase (AGPS) belongs to a group of peroxisomal enzymes that catalyze the first step in ether phospholipid biosynthesis …
|
View
|
| TRAM1L1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HTATIP2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| KPNA1 |
- |
|
|
Recombination activating proteins RAG1 and RAG2 regulate and mediate V(D)J recombination, the process by which genes for immunoglobulins and T-cell …
|
View
|
| ETS2 |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| GPR145 |
- |
|
|
Receptor for melanin-concentrating hormone, coupled to G proteins that activate phosphoinositide hydrolysis.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
Bidirectional lipid cholinephosphotransferases capable of converting phosphatidylcholine (PC) and ceramide to sphingomyelin (SM) and diacylglycerol (DAG) and vice versa. Direction …
|
View
|
| LAPTM4B |
- |
|
|
-
|
View
|
| RBBP6 |
- |
|
|
The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and …
|
View
|
| WDR63 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| EP300 |
- |
|
|
EP300 encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. p300 is related by sequence to CBP (CREB-binding protein [CREB: …
|
View
|
| - |
- |
|
|
-
|
View
|
| STIP1 |
- |
|
|
Mediates the association of the molecular chaperones HSC70 and HSP90 (HSPCA and HSPCB).
|
View
|
| ABCB6 |
- |
|
|
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins …
|
View
|
| - |
- |
|
|
-
|
View
|
| GRINA |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CSPG5 |
- |
|
|
-
|
View
|
| MAFG |
- |
|
|
Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, …
|
View
|
| - |
- |
|
|
-
|
View
|
| NPHP3 |
- |
|
|
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat …
|
View
|
| LALBA |
- |
|
|
This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer …
|
View
|
| - |
- |
|
|
-
|
View
|
| MTL5 |
- |
|
|
Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have …
|
View
|
| KCTD17 |
- |
|
|
-
|
View
|
| SLC6A17 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| FAM21C |
- |
|
|
-
|
View
|
| PARN |
- |
|
|
Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. The amino acid …
|
View
|
| - |
- |
|
|
This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone …
|
View
|
| - |
- |
|
|
-
|
View
|
| RAC2 |
- |
|
|
The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members …
|
View
|
| TAS2R4 |
- |
|
|
This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor …
|
View
|
| TTLL1 |
- |
|
|
Not known; could have a tyrosine ligase activity.
|
View
|
| NSUN4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| KIAA1715 |
- |
|
|
-
|
View
|
| C14orf135 |
- |
|
|
-
|
View
|
| TSGA10 |
- |
|
|
-
|
View
|
| STX17 |
- |
|
|
Implicated in vesicle trafficking to lysosomes. Could be involved in processes related to cell division (By similarity).
|
View
|
| HIP1 |
- |
|
|
The product of this gene is a membrane-associated protein that colocalizes with huntingtin. This protein has similarities to cytoskeleton proteins …
|
View
|
| MRPL16 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| DMRTA1 |
- |
|
|
-
|
View
|
| FTSJ3 |
- |
|
|
Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST …
|
View
|
| SPINK2 |
- |
|
|
Strong inhibitor of acrosin in male and/or female genital tract. Also inhibits trypsin.
|
View
|
| SAA1 |
- |
|
|
Major acute phase reactant. Apolipoprotein of the HDL complex.
|
View
|
| SIRT4 |
- |
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This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the …
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| BNC2 |
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| AP4B1 |
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The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 …
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| OR51I2 |
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Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
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| MANEA |
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| APOM |
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The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated …
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| OGT |
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O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT) catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. …
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| TMOD2 |
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Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation …
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| KLHDC5 |
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| C1orf79 |
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| MRPL1 |
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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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| PSENEN |
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This gene encodes a protein expressed in the eye.
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