| ADD2 |
- |
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Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are …
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| XYLT2 |
- |
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The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme …
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| - |
- |
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-
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| MSH4 |
- |
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-
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| PXK |
- |
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-
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| - |
- |
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-
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| SNX10 |
- |
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This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which …
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| STK40 |
- |
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-
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| - |
- |
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-
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| CPNE1 |
- |
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Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a …
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| GAPDH |
- |
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Glyceraldehyde-3-phosphate dehydrogenase catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of …
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| OLFM3 |
- |
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-
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| CDH2 |
- |
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This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein …
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| MRPL3 |
- |
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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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| NUPL1 |
- |
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This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein …
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| PRPS1L1 |
- |
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This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two …
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| SIGLEC8 |
- |
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Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha2,3- linked sialic acid. Also binds to …
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| IGHG3 |
- |
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-
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| - |
- |
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-
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| ZNF403 |
- |
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-
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| C20orf175 |
- |
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-
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| C7orf10 |
- |
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-
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| RPL28 |
- |
|
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Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
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| LYZL2 |
- |
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-
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| ZNF263 |
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The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. …
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| C2orf3 |
- |
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The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts …
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| DEDD |
- |
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This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by …
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| AAMP |
- |
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The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly …
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| USP38 |
- |
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-
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| GALR1 |
- |
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The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins …
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| ZDHHC1 |
- |
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-
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| CPSF4 |
- |
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Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. …
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| C14orf2 |
- |
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-
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| ZNF385 |
- |
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Zinc finger proteins, such as ZNF385, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or …
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| FMO3 |
- |
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-
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| IER3IP1 |
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-
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| KCNQ3 |
- |
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The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of …
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| MRO |
- |
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-
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View
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| MAPKAPK3 |
- |
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This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP …
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| EFHC2 |
- |
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-
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View
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| TMEM46 |
- |
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-
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| - |
- |
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-
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| MTX1 |
- |
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-
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| ARRDC4 |
- |
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-
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| SRA1 |
- |
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-
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| PFKM |
- |
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-
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| STUB1 |
- |
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-
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| IL1R1 |
- |
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The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein …
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| C22orf1 |
- |
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-
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| NFAM1 |
- |
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The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the …
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| DSTN |
- |
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The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing …
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| NTF5 |
- |
|
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This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. …
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| C18orf58 |
- |
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-
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View
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| PDE6G |
- |
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Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in …
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View
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| - |
- |
|
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RNA-binding protein with binding specificity for poly(C). May play an important role in neural development.
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View
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| BBC3 |
- |
|
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Essential mediator of p53-dependent and p53-independent apoptosis.
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| HDAC1 |
- |
|
|
Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The …
|
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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| PHOSPHO2 |
- |
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-
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View
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| C6orf50 |
- |
|
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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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| ZNF70 |
- |
|
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May be involved in transcriptional regulation.
|
View
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| C14orf171 |
- |
|
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-
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View
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| SNAI3 |
- |
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-
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| FBXW12 |
- |
|
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Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, …
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| RAI1 |
- |
|
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This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart …
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| COX6C |
- |
|
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Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c …
|
View
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| - |
- |
|
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-
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View
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| FLRT3 |
- |
|
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FLRT1, FLRT2 and FLRT3 are members of the fibronectin leucine rich transmembrane protein (FLRT) family. They may function in cell …
|
View
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| - |
- |
|
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-
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View
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| USF1 |
- |
|
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This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. …
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| - |
- |
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-
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View
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| GTF2I |
- |
|
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This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a …
|
View
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| WFDC5 |
- |
|
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This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC …
|
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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| MRP63 |
- |
|
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Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| GP1BB |
- |
|
|
Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD …
|
View
|
| HIST2H2BE |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules …
|
View
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| NPM1 |
- |
|
|
Associated with nucleolar ribonucleoprotein structures and bind single-stranded nucleic acids. It may function in the assembly and/or transport of ribosome.
|
View
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| RPL7L1 |
- |
|
|
-
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View
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| C21orf81 |
- |
|
|
-
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View
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| GPR6 |
- |
|
|
Orphan receptor.
|
View
|
| ISL1 |
- |
|
|
ISL1 encodes islet 1, a transcription factor containing two amino-terminal LIM domains and one carboxy-terminal homeodomain. ISL1 plays an important …
|
View
|
| ALG5 |
- |
|
|
This gene encodes the enzyme dolichyl phosphate glucosyltransferase. This enzyme participates in the glucosylation of the oligomannose core. The addition …
|
View
|
| NAALAD2 |
- |
|
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This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family …
|
View
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| MPP7 |
- |
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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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| IDH3B |
- |
|
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Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which …
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| SCN3B |
- |
|
|
Voltage-sensitive sodium channel beta subunits, such as SCN3B, are auxiliary components that regulate the ion-conducting alpha subunits.[supplied by OMIM]
|
View
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| PCYT1A |
- |
|
|
Controls phosphatidylcholine synthesis.
|
View
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| - |
- |
|
|
-
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View
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| PSMA3 |
- |
|
|
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed …
|
View
|
| IBTK |
- |
|
|
The protein encoded by this gene binds to Bruton's tyrosine kinase (BTK) and downregulates BTK's kinase activity. In addition, the …
|
View
|
| RYR1 |
- |
|
|
The RYR1 gene encodes the skeletal muscle ryanodine receptor, which serves as a calcium release channel of the sarcoplasmic reticulum …
|
View
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| - |
- |
|
|
DISCONTINUED: LocusId 79976 was defined by AK023121.1, which contains SINE/Alu repeat sequences and does not appear to represent a protein …
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View
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| KRT1B |
- |
|
|
-
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View
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| - |
- |
|
|
-
|
View
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| AKR1C3 |
- |
|
|
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. …
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View
|
| FUT4 |
- |
|
|
FUT4 catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). It has been detected in human embryos (5-10 weeks) …
|
View
|
| CD74 |
- |
|
|
Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex …
|
View
|
| - |
- |
|
|
-
|
View
|
| GPR84 |
- |
|
|
Orphan receptor.
|
View
|
| COMMD1 |
- |
|
|
May function to facilitate biliary copper excretion within hepatocytes.
|
View
|
| - |
- |
|
|
-
|
View
|
| C21orf113 |
- |
|
|
-
|
View
|
| IL11RA |
- |
|
|
Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the …
|
View
|
| KCNJ2 |
- |
|
|
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein …
|
View
|
| ESRRG |
- |
|
|
-
|
View
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| MBNL3 |
- |
|
|
Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction.
|
View
|
| GRID1 |
- |
|
|
L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are …
|
View
|
| TRAF3IP2 |
- |
|
|
This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These …
|
View
|
| MEN1 |
- |
|
|
This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In …
|
View
|
| ZNF662 |
- |
|
|
-
|
View
|
| ZNF407 |
- |
|
|
May function as a transcription factor.
|
View
|
| PPP2R2D |
- |
|
|
-
|
View
|
| TSPAN5 |
- |
|
|
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
|
View
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| PBOV1 |
- |
|
|
-
|
View
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| ARMC7 |
- |
|
|
-
|
View
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| KRTAP3-1 |
- |
|
|
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate …
|
View
|
| ZNF354C |
- |
|
|
-
|
View
|
| FAM35A |
- |
|
|
-
|
View
|
| ADPRH |
- |
|
|
The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike …
|
View
|
| C6orf25 |
- |
|
|
This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class …
|
View
|
| FBXO5 |
- |
|
|
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, …
|
View
|
| BRD7 |
- |
|
|
-
|
View
|
| UTS2 |
- |
|
|
This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active …
|
View
|
| CENPC1 |
- |
|
|
Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required …
|
View
|
| ATP8B2 |
- |
|
|
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of …
|
View
|
| C9orf105 |
- |
|
|
Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, …
|
View
|
| WDR59 |
- |
|
|
-
|
View
|
| AMBN |
- |
|
|
Ameloblastin is thought to represent an unique ameloblast-specific gene product that may be important in enamel matrix formation and mineralization. …
|
View
|
| C1orf86 |
- |
|
|
-
|
View
|
| C10orf73 |
- |
|
|
-
|
View
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| RAB43 |
- |
|
|
-
|
View
|
| C20orf173 |
- |
|
|
-
|
View
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| GBF1 |
- |
|
|
Promotes guanine-nucleotide exchange on ARF5. Promotes the activation of ARF5 through replacement of GDP with GTP (By similarity).
|
View
|
| SLITRK6 |
- |
|
|
Suppresses neurite outgrowth (By similarity).
|
View
|
| BRSK1 |
- |
|
|
May be involved in the regulation of G2/M arrest in response to UV- or methyl methane sulfonate (MMS)-induced, but not …
|
View
|
| LDHC |
- |
|
|
Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic …
|
View
|
| C19orf24 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF142 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| LOXL1 |
- |
|
|
-
|
View
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| ORMDL1 |
- |
|
|
-
|
View
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| ABI1 |
- |
|
|
The protein encoded by this gene has been found to form a complex with EPS8 and SOS1, and is thought …
|
View
|
| OLFML2B |
- |
|
|
-
|
View
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| GALNTL5 |
- |
|
|
Potential glycopeptide transferase involved in O-linked oligosaccharide biosynthesis (By similarity).
|
View
|
| VBP1 |
- |
|
|
The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. Because it functions …
|
View
|
| - |
- |
|
|
Selenoproteins, such as SELO, contain the rare twenty-first amino acid, selenocysteine (sec). These proteins lack common amino acid sequence motifs, …
|
View
|
| NAT8 |
- |
|
|
This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The …
|
View
|
| PSMB7 |
- |
|
|
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed …
|
View
|
| TPD52 |
- |
|
|
-
|
View
|
| RBP3 |
- |
|
|
Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the …
|
View
|
| RPS11 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| FREM3 |
- |
|
|
-
|
View
|
| PDE4A |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZFP62 |
- |
|
|
May play a role in differentiating skeletal muscle (By similarity).
|
View
|
| HMG20B |
- |
|
|
Required for correct progression through G2 phase of the cell cycle and entry into mitosis. Required for RCOR1/CoREST mediated repression …
|
View
|
| CD38 |
- |
|
|
CD38 is a novel multifunctional ectoenzyme widely expressed in cells and tissues especially in leukocytes. CD38 also functions in cell …
|
View
|
| SSX5 |
- |
|
|
The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins …
|
View
|
| NGFR |
- |
|
|
Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions …
|
View
|
| - |
- |
|
|
-
|
View
|
| G1P2 |
- |
|
|
Acts as ubiquitin by conjugation to intracellular target proteins, through an enzyme pathway distinct from that of ubiquitin, differing in …
|
View
|
| RAI14 |
- |
|
|
-
|
View
|
| MC2R |
- |
|
|
MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PHF12 |
- |
|
|
Acts as a transcriptional repressor. Involved in recruitment of functional SIN3A complexes to DNA. Represses transcription at least in part …
|
View
|
| FGF21 |
- |
|
|
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess …
|
View
|
| ZMYND10 |
- |
|
|
-
|
View
|
| CLIC3 |
- |
|
|
Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TXNL5 |
- |
|
|
-
|
View
|
| CLTC |
- |
|
|
Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TNRC9 |
- |
|
|
-
|
View
|
| SCN1A |
- |
|
|
The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in …
|
View
|
| RPS15 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| TRGC2 |
- |
|
|
In some non-lymphoid tissues, the unrearranged T cell receptor gamma (TRG@) locus is expressed. The resulting transcript contains a subset …
|
View
|
| LRRFIP2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
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| ELA1 |
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Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes …
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| - |
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| - |
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| ZNF140 |
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May be involved in transcriptional regulation as a repressor.
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| - |
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| ZNF312 |
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-
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| CD244 |
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Modulate other receptor-ligand interactions to enhance leukocyte activation.
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