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: | BLM |
| Gene Name: | BLM |
| Protein Full Name: | Bloom syndrome protein |
| Alias: | Bloom Syndrome; Bloom syndrome, RecQ helicase-like; Bloom's syndrome protein; BS; DNA helicase, RecQ-like, type 2; RecQ protein-like 3; RECQ2; RECQL3 |
| Mass (Da): | 159000 |
| Number AA: | 1417 |
| UniProt ID: | P54132 |
| Locus ID: | 641 |
| COSMIC ID: | BLM |
| Gene location on chromosome: | 15q26.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20444 |
| Percent of cancer specimens with mutations: | 0.99 |
| Mutations observed as inherited: | Bloom syndrome. |
| Normal role description: | BLM participates in DNA replication and repair. It is a part of the BRCA1-associated genome surveillance complex (BASC), and exhibits a MG2+-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Defects in the gene are the cause of Bloom syndrome; a disease characterized by chromosome instability and cancer proneness. |