Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | ARID1A |
| Gene Name: | ARID1A |
| Protein Full Name: | AT-rich interactive domain-containing protein 1A |
| Alias: | ARI1A; AT rich interactive domain 1A; B120; BAF250; BAF250a; BRG1-associated factor 250; BRG1-associated factor 250a; C10rf4; C1orf4; HELD; Osa homolog 1; P270; SMARCF1; SMF1; SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1; SWI-like; SWI-like protein; SWI-SNF complex protein p270 |
| Mass (Da): | 242045 |
| Number AA: | 2285 |
| UniProt ID: | O14497 |
| Locus ID: | 8289 |
| COSMIC ID: | ARID1A |
| Gene location on chromosome: | 1p35.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 22211 |
| Percent of cancer specimens with mutations: | 5.05 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad range with many point mutations, insertions and deletions. |
| Normal role description: | ARID1A encodes a member of the SWI/SNF family, and is thought to regulate transcription of certain genes by chromatin remodelling. It belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex), which is important for the self-renewal/proliferative capacity of the multipotent neural stem cells; and the neuron-specific chromatin remodeling complex (nBAF complex), which is involved in the regulation of dendrite growth. It is also involved in Vitamin D-coupled transcription regulation and may play a role in lipid metabolism, with overexpression of the gene leading to lipid deposition in a number of tissues . |
| Commentary on involvement of protein in cancer: | Also 1 glioma (2%) and 1 medulloblastoma (2%) samples out of a total of 45 unique CNS samples were mutated (mis-sense and frameshift deletion, respectively); 1 laryngeal sample/4 total UAT samples (non-sense), and 2/4 (50%) of endometrial samples from ovary (mis-sense, non-sense and frameshift insertion) were mutated (Sanger COSMIC). |