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: | ASXL1 |
| Gene Name: | ASXL1 |
| Protein Full Name: | Putative Polycomb group protein ASXL1 |
| Alias: | Additional sex combs like 1; Additional sex combs-like 1; Additional sex combs-like protein 1; KIAA0978; Polycomb group protein ASXL1 |
| Mass (Da): | 165432 |
| Number AA: | 1541 |
| UniProt ID: | Q5JWS8 |
| Locus ID: | 171023 |
| COSMIC ID: | ASXL1 |
| Gene location on chromosome: | 20q11.21 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 28433 |
| Percent of cancer specimens with mutations: | 5.63 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, insertions and deletions over 55% of the protein on the C-terminal side (particularly between AA 577-866). |
| Commonly recorded point mutations: | G646fs*12 (387); E635fs*15 (105); |
| Deregulated in translocations: | B-cell precursor acute lymphoblastic leukemias, fusion partner PAX5. |
| Normal role description: | ASXL1 is a regulatory protein containing nuclear receptor binding motifs and homeodomain DNA binding motifs. This protein act a co-regulator of nuclear receptors to either promote or inhibit expression of target genes. ASXL1 has been found to interact with retinoic acid receptors (RA), Peroxisome proliferator-activated receptor (PPAR) and heterochromatin protein 1 (HPA). Mutations of ASXL1 has been frequently implicated in the development of cancers. Typically mutations lead to truncated or inactive ASXL1, which would suggest a tumour suppressor role for ASXL1. Furthermore the ASXL1 gene locus can undergo a translocation event to result in a fusion protein with PAX5 implicated in lymphoblastic leukemias. |