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: | FANCF |
| Gene Name: | FANCF |
| Protein Full Name: | Fanconi anemia group F protein |
| Mass (Da): | 42254 |
| Number AA: | 374 |
| UniProt ID: | Q9NPI8 |
| Locus ID: | 2188 |
| COSMIC ID: | FANCF |
| Gene location on chromosome: | 11p15 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20442 |
| Percent of cancer specimens with mutations: | 0.2 |
| Mutations observed as inherited: | Fanconi anaemia. Autosomal recessive 2.5/10000 new borns. 2-3% are mutatios in FANCF |
| Normal role description: | FANCF is a component of the nuclear localized FA complex involved in maintaining genome integrity. The FA complex is composed of cytoplasmic FANCA, FANCG FANCC and the nuclear localized FANCE and FANCF, and all components are required for complex integrity. The FA complex is involved in monoubiquitination of FANCD2 in the nucleus which will colocalize with BRCA1 to mediate DNA damage repair. FANCF is implicated in 2-3% Fanconi anemia cases. Fanconi anemia is a heterogenous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Due to FA complex important role in maintaining DNA stability Fanconi anemia patients have higher susceptibility to developing myelodysplasia, acute nonlyphocytic leukaemia, hepatocarcinoma and squamous cell carcinoma. |