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Description:
NFE2L1 activates erythroid-specific, globin gene expression. This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for 'nuclear respiratory factor 1' which has an official symbol of NRF1. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Description:
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. RPL30 is a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene encoding RPL30 is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron.Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
Description:
Tumor necrosis factor receptor superfamily member 10A (TNFRSF10A) is also known as TNF-related apoptosis-inducing ligand receptor 1 (TRAIL-R1), Death receptor 4 (DR4), CD261 and APO2, which belongs to TNF superfamily. TRAILR1 / TNFRSF10A contains 1 death domain and 3 TNFR-Cys repeats. TNFRSF10A / DR4 is widely expressed and high levels are found in spleen, peripheral blood leukocytes, small intestine and thymus, but also in K-562 erythroleukemia cells, MCF-7 breast carcinoma cells and activated T-cells. APO2 / TNFRSF10A is receptor for the cytotoxic ligand TNFSF10 / TRAIL. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. TRAILR-1 / DR4 / CD261 promotes the activation of NF-kappa-B.
Description:
PMSA (FOLH1) is a type II transmembrane glycoprotein belonging to the M28 peptidase family. Three functionally distinct proteins are encoded, including poly-gamma-glutamate carboxypeptidase in the intestine, N-acetylated alpha-linked acidic dipeptidase 1 in the brain, and prostate- specific membrane antigen in the prostate. A mutation in the intestinal form may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. The form expressed in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. The prostate form is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region.
Description:
T-cell immunoreceptor with Ig and ITIM domains (TIGIT) is also known as V-set and immunoglobulin domain-containing protein 9 (VSIG9), V-set and transmembrane domain-containing protein 3 (VSTM3),which belongs to single-pass type I membrane protein containing an immunoglobulin variable domain, a transmembrane domain and an immunoreceptor tyrosine-based inhibitory motif (ITIM).
Description:
Tumor necrosis factor receptor superfamily member 10A (TNFRSF10A) is also known as TNF-related apoptosis-inducing ligand receptor 1 (TRAIL-R1), Death receptor 4 (DR4), CD261 and APO2, which belongs to TNF superfamily. TRAILR1 / TNFRSF10A contains 1 death domain and 3 TNFR-Cys repeats. TNFRSF10A / DR4 is widely expressed and high levels are found in spleen, peripheral blood leukocytes, small intestine and thymus, but also in K-562 erythroleukemia cells, MCF-7 breast carcinoma cells and activated T-cells. APO2 / TNFRSF10A is receptor for the cytotoxic ligand TNFSF10 / TRAIL.The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. TRAILR-1 / DR4 / CD261 promotes the activation of NF-kappa-B.
Description:
TGF-beta receptor type-2 (TGFBR2 or TGFR-2) is also known as TGF-beta type II receptor, Transforming growth factor-beta receptor type II, TbetaR-II, TGFβR2, which is a homodimer or heterohexamer, belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family and TGFB receptor subfamily. TGFR2 / TGFBR2 binds TGF-β1 / TGFB1 and TGF-β3 / TGFB3 with high affinity and TGF-β2 / TGFB2 with a much lower affinity. This type I I receptor forms a heterodimeric complex with type I receptor and is essential for signal transduction. Upon ligand binding, the TGFR2 autophosphorylates its cytoplasmic domain and subsequently phosphorylates the downstream molecules which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation.
Description:
Thrombospondin type-1 domain-containing protein 1 (THSD1) is also known as Transmembrane molecule with thrombospondin module (TMTSP), which is a single-pass type I membrane protein and contains a type 1 thrombospondin domain that is found in thrombospondin, a number of proteins involved in the complement pathway, as well as extracellular matrix proteins. In addition, THSD1 is widely expressed on endothelial cells, with highest expression in the lung. THSD1's ligand and function are unknown, but it is postulated that THSD1 may be involved in the regulation of vasculogenesis and/or angiogenesis through its interaction with its specific ligand.
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