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: | FOXA1 |
| Gene Name: | FOXA1 |
| Protein Full Name: | Hepatocyte nuclear factor 3-alpha |
| Alias: | Forkhead box A1; Forkhead box protein A1; Hepatocyte nuclear factor 3, alpha; HNF3A; HNF-3A; TCF3A |
| Mass (Da): | 49321 |
| Number AA: | 473 |
| UniProt ID: | P55317 |
| Locus ID: | 3169 |
| COSMIC ID: | FOXA1 |
| Gene location on chromosome: | 14q21.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19885 |
| Percent of cancer specimens with mutations: | 0.61 |
| Found in amplified chromosomal regions in human cancers: | Estrogen receptor and Progestrone receptor positive (ER+/PR+) breast cancer |
| Normal role description: | FOXA1 is a hepatocyte nuclear factor that functions as a transcriptional activator for liver-specific transcripts such as albumin and transthyretin. It also binds to chromatinized DNA and opens the chromatin to allow other transcription factors to bind to the DNA. The gene is required for normal bile duct development and plays a role in ESR1-mediated transcription; absence of the gene in mammary gland results in impaired ductal morphogenesis and a reduction in the number of ER-positive cells. |
| Commentary on involvement of protein in cancer: | Esophageal squamous cell carcinoma that has metastasized to lymphnodes express higher levels of FOXA1; loss of FOXA1 expression correlates with epithelial-to-mesenchymal transition in pancreatic cancer; |