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: | MCPH1 |
| Gene Name: | MCPH1 |
| Protein Full Name: | Microcephalin |
| Alias: | BRCT-repeat inhibitor of TERT expression 1; BRIT1; MCT; Microcephaly, primary autosomal recessive 1 |
| Mass (Da): | 92772 |
| Number AA: | 835 |
| UniProt ID: | Q8NEM0 |
| Locus ID: | 79648 |
| COSMIC ID: | MCPH1 |
| Gene location on chromosome: | 8p23.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19536 |
| Percent of cancer specimens with mutations: | 0.66 |
| Normal role description: | MCPH1 is a DNA-damage response protein; it plays a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1 (CDK1). Downregulation of this gene has been found in breast and ovarian tumors. |