| CSN2 |
- |
|
|
Important role in determination of the surface properties of the casein micelles.
|
View
|
| ATP6V1B2 |
- |
|
|
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase …
|
View
|
| IGHG1 |
- |
|
|
-
|
View
|
| TIMM9 |
- |
|
|
TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. …
|
View
|
| ZNF302 |
- |
|
|
May function as a transcription factor.
|
View
|
| SLC17A1 |
- |
|
|
Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) …
|
View
|
| ANKRD24 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GANAB |
- |
|
|
Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins.
|
View
|
| CTDSP2 |
- |
|
|
May contribute to the development of sarcomas.
|
View
|
| PTP4A2 |
- |
|
|
The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are …
|
View
|
| MYO9A |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| KIAA0368 |
- |
|
|
May couple proteasomes to secretory compartments engaged in the endoplasmic reticulum-associated degradation (ERAD) pathway and to other sites of enhanced …
|
View
|
| SPO11 |
- |
|
|
Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, …
|
View
|
| SCGB1C1 |
- |
|
|
-
|
View
|
| HIBADH |
- |
|
|
3-hydroxyisobutyrate dehydrogenase (3-hydroxy-2-methylpropanoate:NAD(+) oxidoreductase, EC 1.1.1.31) is a dimeric mitochondrial enzyme that catalyzes the NAD(+)-dependent, reversible oxidation of 3-hydroxyisobutyrate, an …
|
View
|
| PAPD4 |
- |
|
|
-
|
View
|
| OR10A3 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| ABP1 |
- |
|
|
This gene encodes a membrane glycoprotein that binds amiloride, a diuretic that acts by closing epithelial sodium ion channels. Experimental …
|
View
|
| ANKRD40 |
- |
|
|
-
|
View
|
| TYR |
- |
|
|
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes …
|
View
|
| FGF5 |
- |
|
|
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess …
|
View
|
| PDZK1IP1 |
- |
|
|
May play an important role in tumor biology.
|
View
|
| - |
- |
|
|
-
|
View
|
| C20orf125 |
- |
|
|
-
|
View
|
| CHCHD2 |
- |
|
|
-
|
View
|
| CCS |
- |
|
|
Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct …
|
View
|
| IFITM1 |
- |
|
|
Implicated in the control of cell growth. Component of a multimeric complex involved in the transduction of antiproliferative and homotypic …
|
View
|
| RNASEH1 |
- |
|
|
This enzyme is an endonuclease that degrades the RNA of RNA-DNA hybrids specifically.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GALNT1 |
- |
|
|
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the …
|
View
|
| - |
- |
|
|
General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. Binds …
|
View
|
| - |
- |
|
|
-
|
View
|
| GP5 |
- |
|
|
Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for …
|
View
|
| ZNF440 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| FCHO1 |
- |
|
|
-
|
View
|
| SLC16A11 |
- |
|
|
-
|
View
|
| RBM3 |
- |
|
|
This gene is a member of the glycine-rich RNA-binding protein family and encodes a protein with one RNA recognition motif …
|
View
|
| USHBP1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PCDH1 |
- |
|
|
This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at …
|
View
|
| - |
- |
|
|
-
|
View
|
| ALS2CR2 |
- |
|
|
-
|
View
|
| RBMY3AP |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PUNC |
- |
|
|
-
|
View
|
| CDK5R1 |
- |
|
|
The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| IL2RA |
- |
|
|
The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZC3HDC1 |
- |
|
|
-
|
View
|
| MAP2K1IP1 |
- |
|
|
The protein encoded by this gene was identified as an interacting protein that binds specifically to MAP kinase kinase MAP2K1/MEK1 …
|
View
|
| HNRPA0 |
- |
|
|
This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins …
|
View
|
| SUMO3 |
- |
|
|
SUMO proteins, such as SUMO3, and ubiquitin (see MIM 191339) posttranslationally modify numerous cellular proteins and affect their metabolism and …
|
View
|
| PRKAG1 |
- |
|
|
The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer …
|
View
|
| - |
- |
|
|
Nucleases are components of DNA and RNA metabolism that carry out functions in DNA repair, replication, and recombination and in …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
Essential for gene silencing: has a role in the structure of silenced chromatin. Plays a role in the developing brain …
|
View
|
| DUX5 |
- |
|
|
-
|
View
|
| - |
- |
|
|
Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes …
|
View
|
| MUC1 |
- |
|
|
This gene is a member of the mucin family and encodes a membrane bound, glycosylated phosphoprotein. This protein is anchored …
|
View
|
| EIF4G1 |
- |
|
|
The protein encoded by this gene is a component of the protein complex EIF4F, which is involved in the recognition …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF285 |
- |
|
|
May function as a transcription factor.
|
View
|
| - |
- |
|
|
-
|
View
|
| CPVL |
- |
|
|
The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a …
|
View
|
| CACNA1C |
- |
|
|
This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into …
|
View
|
| - |
- |
|
|
-
|
View
|
| NTN4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PGBD5 |
- |
|
|
The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon …
|
View
|
| MARK1 |
- |
|
|
May play a role in cytoskeletal stability (By similarity).
|
View
|
| PTPN18 |
- |
|
|
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to …
|
View
|
| HADHA |
- |
|
|
The HADHA and HADHB (MIM 143450) genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The …
|
View
|
| ING4 |
- |
|
|
The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit …
|
View
|
| HOOK3 |
- |
|
|
Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, …
|
View
|
| TBC1D20 |
- |
|
|
May act as a GTPase activating protein for Rab family protein(s).
|
View
|
| LIN7B |
- |
|
|
Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized …
|
View
|
| RNASE11 |
- |
|
|
-
|
View
|
| - |
- |
|
|
TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other transmembrane domain, called fusion peptide, …
|
View
|
| - |
- |
|
|
-
|
View
|
| SCNM1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| FOXJ1 |
- |
|
|
FOXJ1 is a member of the forkhead gene family, which was originally identified in Drosophila. The forkhead family is composed …
|
View
|
| C9orf91 |
- |
|
|
-
|
View
|
| SLC35B3 |
- |
|
|
-
|
View
|
| GLRX |
- |
|
|
Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins.
|
View
|
| MOGAT2 |
- |
|
|
-
|
View
|
| RPS4L |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
The protein encoded by this gene is a member of the acyl coenzyme family. It hydrolyzes the CoA thioester of …
|
View
|
| - |
- |
|
|
-
|
View
|
| ANKRD22 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| EPAS1 |
- |
|
|
Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response …
|
View
|
| UROC1 |
- |
|
|
-
|
View
|
| MGAT5B |
- |
|
|
-
|
View
|
| - |
- |
|
|
Functions as a bridging factor between STAT6 and the basal transcription factor. Plays a role in PIM1 regulation of MYB …
|
View
|
| IL1A |
- |
|
|
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic …
|
View
|
| DHRSX |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| KIAA0367 |
- |
|
|
-
|
View
|
| CCL26 |
- |
|
|
This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are …
|
View
|
| FKBP7 |
- |
|
|
The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ANKRD18B |
- |
|
|
-
|
View
|
| C14orf103 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RBBP5 |
- |
|
|
The protein encoded by this gene is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of …
|
View
|
| - |
- |
|
|
-
|
View
|
| PRH1 |
- |
|
|
PRP's act as highly potent inhibitors of crystal growth of calcium phosphates. They provide a protective and reparative environment for …
|
View
|
| FCHSD2 |
- |
|
|
-
|
View
|
| C20orf67 |
- |
|
|
May play a role in transcription elongation or in coupling transcription to pre-mRNA processing through its association with the phosphorylated …
|
View
|
| GPR22 |
- |
|
|
-
|
View
|
| HUWE1 |
- |
|
|
Probable E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of target proteins. May inhibit p53/TP53 transactivation, possibly by …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| BAX |
- |
|
|
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and …
|
View
|
| - |
- |
|
|
-
|
View
|
| C20orf79 |
- |
|
|
-
|
View
|
| NAP1L4 |
- |
|
|
This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker …
|
View
|
| ME2 |
- |
|
|
This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZFP36L2 |
- |
|
|
This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists …
|
View
|
| MED12L |
- |
|
|
-
|
View
|
| EIF4B |
- |
|
|
-
|
View
|
| RAB6B |
- |
|
|
Seems to have a role in retrograde membrane traffic at the level of the Golgi complex.
|
View
|
| GNB1L |
- |
|
|
This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are …
|
View
|
| CD276 |
- |
|
|
Costimulatory B7 molecules (e.g., B7-1, or CD80; MIM 112203) signal through CD28 (MIM 186760) family molecules such as CD28, CTLA4 …
|
View
|
| WDR68 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ATP6V0E2L |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PCDH17 |
- |
|
|
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which …
|
View
|
| S100Z |
- |
|
|
-
|
View
|
| C18orf57 |
- |
|
|
-
|
View
|
| HSPCB |
- |
|
|
Molecular chaperone. Has ATPase activity (By similarity).
|
View
|
| FBP2 |
- |
|
|
This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate.
|
View
|
| C20orf158 |
- |
|
|
-
|
View
|
| POLR2D |
- |
|
|
This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. …
|
View
|
| MEF2D |
- |
|
|
Transcription factor which binds specifically to the MEF2 element present in the regulatory regions of many muscle- specific genes. Activates …
|
View
|
| NFIX |
- |
|
|
Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication …
|
View
|
| WDR49 |
- |
|
|
-
|
View
|
| DERL2 |
- |
|
|
May be involved in the degradation process of specific misfolded endoplasmic reticulum (ER) luminal proteins. Its precise role is however …
|
View
|
| AXL |
- |
|
|
The protein encoded by this gene is a member of the receptor tyrosine kinase subfamily. Although it is similar to …
|
View
|
| KIAA0470 |
- |
|
|
-
|
View
|
| C9orf16 |
- |
|
|
-
|
View
|
| METTL2 |
- |
|
|
METTL2 belongs to a conserved family that shares homology with, but is distinct from, a C. elegans family of methyltransferases …
|
View
|
| SEMA4B |
- |
|
|
Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF445 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| TRA1 |
- |
|
|
Molecular chaperone that functions in the processing and transport of secreted proteins.
|
View
|
| L3MBTL |
- |
|
|
This gene encodes the homolog of a protein identified in Drosophila as a suppressor of malignant transformation of neuroblasts and …
|
View
|
| RP1 |
- |
|
|
Initially named for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NSFL1C |
- |
|
|
N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and …
|
View
|
| C14orf54 |
- |
|
|
This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to …
|
View
|
| NSUN5 |
- |
|
|
This gene encodes a protein with similarity to p120 (NOL1), a 120-kDa proliferation-associated nucleolar antigen that is a member of …
|
View
|
| PLA2G2D |
- |
|
|
PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. L-alpha-1-palmitoyl-2- linoleoyl phosphatidylethanolamine is more efficiently hydrolyzed than …
|
View
|
| LYL1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| WNT8B |
- |
|
|
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in …
|
View
|
| GDF11 |
- |
|
|
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. …
|
View
|
| MARVELD3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GALNTL1 |
- |
|
|
May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or …
|
View
|
| XCL1 |
- |
|
|
Chemotactic activity for lymphocytes but not for monocytes or neutrophils.
|
View
|
| - |
- |
|
|
-
|
View
|
| STARD7 |
- |
|
|
Although the function of this gene is not known, its existence is supported by mRNA and EST data. The predicted …
|
View
|
| - |
- |
|
|
-
|
View
|
| NDOR1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| OR2C1 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TMEFF1 |
- |
|
|
-
|
View
|
| GOLT1A |
- |
|
|
-
|
View
|
| NRTN |
- |
|
|
Neurturin is a member of the TGF-beta subfamily, TRN. This gene signals through RET and a GPI-linked coreceptor, and promotes …
|
View
|
| - |
- |
|
|
-
|
View
|
| UBE3A |
- |
|
|
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed …
|
View
|
| - |
- |
|
|
-
|
View
|
| DHX37 |
- |
|
|
This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA …
|
View
|
| C2orf13 |
- |
|
|
-
|
View
|
| SPATA1 |
- |
|
|
-
|
View
|
| TNPO3 |
- |
|
|
Seems to function in nuclear protein import as nuclear transport receptor. In vitro, mediates the nuclear import of splicing factor …
|
View
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| VTCN1 |
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B7H4 belongs to the B7 family (see CD80; MIM 112203) of costimulatory proteins. These proteins are expressed on the surface …
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| USP1 |
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This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with …
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| FIGN |
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Delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin, this prevents …
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