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: | ATRX |
| Alias: | Alpha thalassemia/mental retardation syndrome X-linked; RAD54; RAD54L; Transcriptional regulator ATRX; XH2; X-linked helicase II; X-linked nuclear protein; XNP; Znf-HX |
| Mass (Da): | 282590 |
| UniProt ID: | P46100 |
| Locus ID: | 546 |
| Gene location on chromosome: | Xq21.1 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 21959 |
| Percent of cancer specimens with mutations: | 3.07 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, insertions and deletions over entire protein length. |
| Normal role description: | ATRX belongs to the SWI/SNF family of chromatin remodelling proteins. It is a regulatory protein believed to be involved in brain development, facial morphogenesis, and in chromosomal segregation in mitosis. It gets its name from the fact that mutations in the gene often lead to Alpha-thalassemia mental retardation syndrome X-linked (ATRX), a disease comprising of severe mental retardation, facial- and urogenital abnormalities and alpha-thalassemia. Defects in the gene are also the cause of Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1), with features such as mental retardation and facial abnormailities. Somatic loss of function mutations in the gene have been identified in a rare form of pre-leukemic myelodysplasia, but not with cancer per se. |
| Commentary on involvement of protein in cancer: | Mutations are found in 67% (14/21) of myelodysplasia; 2 frameshift deletion, 1 frameshift insertion, 1 non-sense, 8 mis-sense, and 2 other mutations (data from Sanger COSMIC). Also, 1 % (1/101) of kidney samples was mutated (mis-sense). |