| BCL7A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | BCL7A , BCL7, B-cell CLL/lymphoma 7A, BCL tumor suppressor 7A, BAF complex component, BAF chromatin remodeling complex subunit SMARCJ1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601406; MGI: 1924295; HomoloGene: 10869; GeneCards: BCL7A; OMA:BCL7A - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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B-cell CLL/lymphoma 7 protein family member A is a protein that in humans is encoded by the BCL7A gene located in the chromosome 12 (Cytogenetic band: 12q24.31). [5]
This gene codifies for a protein that belongs to the SWI/SNF chromatin remodelling complex, a complex that is able to modify the interations between DNA and histones using the energy of the ATP hydrolysis. It has found recurrently mutated in lymphomas [6] and silenced by promoter hypermetylation in haematological malignancies. [7] [8]
CD30, also known as TNFRSF8, is a cell membrane protein of the tumor necrosis factor receptor family and a tumor marker.
Mannan-binding lectin serine protease 2 also known as mannose-binding protein-associated serine protease 2 (MASP-2) is an enzyme that in humans is encoded by the MASP2 gene.
p16, is a protein that slows cell division by slowing the progression of the cell cycle from the G1 phase to the S phase, thereby acting as a tumor suppressor. It is encoded by the CDKN2A gene. A deletion in this gene can result in insufficient or non-functional p16, accelerating the cell cycle and resulting in many types of cancer.
C-X-C motif chemokine 11 (CXCL11) is a protein that in humans is encoded by the CXCL11 gene.
Ras association domain-containing protein 1 is a protein that in humans is encoded by the RASSF1 gene.
The CYLD lysine 63 deubiquitinase gene, also termed the CYLD gene, CYLD is an evolutionary ancient gene found to be present as far back on the evolutionary scale as in sponges. In humans, this gene is located in band 12.1 on the long arm of chromosome 16 and is known to code multiple proteins through the process of alternative splicing.
Hypermethylated in cancer 1 protein is a protein that in humans is encoded by the HIC1 gene.
Dickkopf-related protein 3 is a protein in the Dickkopf family that in humans is encoded by the DKK3 gene.
Large tumor suppressor kinase 1 (LATS1) is an enzyme that in humans is encoded by the LATS1 gene.
Inhibitor of growth protein 2 is a protein that in humans is encoded by the ING2 gene.
CDKN2A, also known as cyclin-dependent kinase inhibitor 2A, is a gene which in humans is located at chromosome 9, band p21.3. It is ubiquitously expressed in many tissues and cell types. The gene codes for two proteins, including the INK4 family member p16 and p14arf. Both act as tumor suppressors by regulating the cell cycle. p16 inhibits cyclin dependent kinases 4 and 6 and thereby activates the retinoblastoma (Rb) family of proteins, which block traversal from G1 to S-phase. p14ARF activates the p53 tumor suppressor. Somatic mutations of CDKN2A are common in the majority of human cancers, with estimates that CDKN2A is the second most commonly inactivated gene in cancer after p53. Germline mutations of CDKN2A are associated with familial melanoma, glioblastoma and pancreatic cancer. The CDKN2A gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.
Large tumor suppressor kinase 2 (LATS2) is an enzyme that in humans is encoded by the LATS2 gene.
Receptor-type tyrosine-protein phosphatase gamma is an enzyme that in humans is encoded by the PTPRG gene.
Thrombospondin-4 is a protein that in humans is encoded by the THBS4 gene.
10-formyltetrahydrofolate dehydrogenase is an enzyme that in humans is encoded by the ALDH1L1 gene.
Haptocorrin (HC) also known as transcobalamin-1 (TC-1) or cobalophilin is a transcobalamin protein that in humans is encoded by the TCN1 gene. One essential function of haptocorrin is protection of the acid-sensitive vitamin B12 while it moves through the stomach. A second function is serum HC binding of the great majority of circulating vitamin B12, rendering it unavailable for take-up by cells. This is conjectured to be a circulating storage function.
Yippee-like 3 (Drosophila) is a protein that in humans is encoded by the YPEL3 gene. YPEL3 has growth inhibitory effects in normal and tumor cell lines. One of five family members (YPEL1-5), YPEL3 was named in reference to its Drosophila melanogaster orthologue. Initially discovered in a gene expression profiling assay of p53 activated MCF7 cells, induction of YPEL3 has been shown to trigger permanent growth arrest or cellular senescence in certain human normal and tumor cell types. DNA methylation of a CpG island near the YPEL3 promoter as well as histone acetylation may represent possible epigenetic mechanisms leading to decreased gene expression in human tumors.
Cancer epigenetics is the study of epigenetic modifications to the DNA of cancer cells that do not involve a change in the nucleotide sequence, but instead involve a change in the way the genetic code is expressed. Epigenetic mechanisms are necessary to maintain normal sequences of tissue specific gene expression and are crucial for normal development. They may be just as important, if not even more important, than genetic mutations in a cell's transformation to cancer. The disturbance of epigenetic processes in cancers, can lead to a loss of expression of genes that occurs about 10 times more frequently by transcription silencing than by mutations. As Vogelstein et al. points out, in a colorectal cancer there are usually about 3 to 6 driver mutations and 33 to 66 hitchhiker or passenger mutations. However, in colon tumors compared to adjacent normal-appearing colonic mucosa, there are about 600 to 800 heavily methylated CpG islands in the promoters of genes in the tumors while these CpG islands are not methylated in the adjacent mucosa. Manipulation of epigenetic alterations holds great promise for cancer prevention, detection, and therapy. In different types of cancer, a variety of epigenetic mechanisms can be perturbed, such as the silencing of tumor suppressor genes and activation of oncogenes by altered CpG island methylation patterns, histone modifications, and dysregulation of DNA binding proteins. There are several medications which have epigenetic impact, that are now used in a number of these diseases.
Autophagy related 9B is a protein that in humans is encoded by the ATG9B gene.
Augurin is a protein that in humans is encoded by the C2orf40 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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