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: | XAF1 |
| Gene Name: | XAF1 |
| Protein Full Name: | XIAP-associated factor 1 |
| Alias: | BIRC4 binding protein; BIRC4BP; HSXIAPAF1; XIAP; XIAP associated factor 1; XIAP associated factor-1; XIAPAF1 |
| Mass (Da): | 36915 |
| Number AA: | 301 |
| UniProt ID: | Q6GPH4 |
| Locus ID: | 54739 |
| COSMIC ID: | XAF1 |
| Gene location on chromosome: | 17p13.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19626 |
| Percent of cancer specimens with mutations: | 0.2 |
| Gene undergoes hypermethylation: | Aberrant promoter hypermethylation in the 5' proximal region (from +3nt to -234 nt) in a variety of gastric, colon, bladder, kidney and prostate cancer cell lines and tumors |
| Normal role description: | XAF1 is a member of the inhibitor of apoptosis family of proteins (IAP). XAF1 exerts a proapoptotic effect by directly interacting with BIRC4/XIAP and antagonizing its anticaspase activity. XAF1 enhances XIAP E3 ligase activity towards BIRC5/Survivin through a complex and mediates Survivin down-regulation. LOH via mutation or promoter hypermethylation demonstrated in many different cancers supporting role as TSP. |