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: | ATP8B1 |
| Gene Name: | ATP8B1 |
| Protein Full Name: | Probable phospholipid-transporting ATPase IC |
| Alias: | AT8B1; ATPase class I type 8B member 1; ATPase, class I, type 8B, member 1; ATPIC; Benign recurrent intrahepatic cholestasis; BRIC; E1-E2 ATPase; EC 3.6.3.1; Familial intrahepatic cholestasis type 1; FIC1; PFIC; PFIC1; Phospholipid-transporting ATPase IC; Progressive familial intrahepatic cholestasis 1, Byler disease |
| Mass (Da): | 143695 |
| Number AA: | 1251 |
| UniProt ID: | O43520 |
| Locus ID: | 5205 |
| COSMIC ID: | ATP8B1 |
| Gene location on chromosome: | 18q21.31 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20309 |
| Percent of cancer specimens with mutations: | 0.97 |
| Mutations observed as inherited: | progressive familial intrahepatic cholestasis type 1 (PFIC1) AR |