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: | MafA |
Gene Name: | MAFA |
Protein Full Name: | Transcription factor MafA |
Alias: | Maf-A; Pancreatic beta-cell specific transcriptional activator; Pancreatic beta-cell-specific transcriptional activator; RIPE3b1; Transcription factor mammalian MafA; Transcription factor RIPE3b1; V-maf musculoaponeurotic fibrosarcoma oncogene A; V-maf musculoaponeurotic fibrosarcoma oncogene homolog A |
Mass (Da): | 36845 |
Number AA: | 352 |
UniProt ID: | Q8NHW3; D4Q8H3 |
Locus ID: | 389692 |
COSMIC ID: | MAFA |
Gene location on chromosome: | 8q24.3 |
Cancer protein type: | UNCLEAR |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | UNCLEAR |
Number of cancer specimens: | 19933 |
Percent of cancer specimens with mutations: | 0.2 |
Deregulated in translocations: | MAFA translocations to the immunoglobulin heavy-chain (IgH) locus are present in less than 1% of multiple myelomas. |
Normal role description: | The transcription factor, MAFA, binds RIPE3b -- a conserved enhancer element that regulates insulin expression in pancreatic beta-cells. MAFA's role in oncogenesis is unclear, as it might, depending on cellular context, serve as both oncogene and tumour suppressor. |