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: | HIF1A |
| Gene Name: | HIF1A |
| Protein Full Name: | Hypoxia-inducible factor 1-alpha |
| Alias: | ARNT-interacting protein;Basic-helix-loop-helix-PAS protein MOP1;Class E basic helix-loop-helix protein 78;Member of PAS protein 1;PAS domain-containing protein 8 |
| Mass (Da): | 92670 |
| Number AA: | 826 |
| UniProt ID: | Q16665 |
| Locus ID: | 3091 |
| COSMIC ID: | HIF1A |
| Gene location on chromosome: | 14q23.2 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20303 |
| Percent of cancer specimens with mutations: | 0.77 |
| Commonly recorded point mutations: | K213Q (27); D238N (11) |
| Normal role description: | Transcriptional activator of more than 40 genes involved in the adaptive reponse to hypoxia. Bind to a specific DNA sequence (5'-[AG]CGTG-3') within the HRE (hypoxia response elements) in promotor regions. CREBPB and EP300 are required as coactivators. Essential role in embryonic vascularization and tumour angiogenesis. |