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: | C11orf30 |
| Gene Name: | C11orf30 |
| Protein Full Name: | Chromosome 11 open reading frame 30 |
| Alias: | Protein EMSY |
| Mass (Da): | 141567 |
| Number AA: | 1323 |
| UniProt ID: | Q7Z589 |
| Locus ID: | 56946 |
| COSMIC ID: | C11orf30 |
| Gene location on chromosome: | 11q13.5 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19718 |
| Percent of cancer specimens with mutations: | 0.9 |
| Found in amplified chromosomal regions in human cancers: | Sporadic Breast Cancers (7%); High Grade Ovarian Cancer (17%) |
| Normal role description: | C11orf30 is a nuclear localized protein with a known role in transcriptional repression. It may do so through recruitment of chromatin remodeling complexes. It has also been known to colocalize with markers of DNA damage suggesting it may participate in DNA damage repair. C11orf30 has been shown to interact with BRCA2 and may act as a regulator of its activity. Overexpression of C11orf30 has been implicated in breast and ovarian cancers. |
| Commentary on involvement of protein in cancer: | Sanger did not state what skin subtype the mutation was in. |