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: | EXT1 |
| Gene Name: | EXT1 |
| Protein Full Name: | Exostosin-1 |
| Alias: | EC 2.4.1.224; EC 2.4.1.225; Exostoses (multiple) 1; EXT; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; LGCR; LGS; Multiple exostoses protein 1; Multiple exostoses type 1 gene; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; Ttv |
| Mass (Da): | 86255 |
| Number AA: | 746 |
| UniProt ID: | Q16394 |
| Locus ID: | 2131 |
| COSMIC ID: | EXT1 |
| Gene location on chromosome: | 8q24.11-q24.13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20296 |
| Percent of cancer specimens with mutations: | 0.85 |
| Mutations observed as inherited: | Hereditary multiple exostoses type 1 (--> increased risk of chondrosarcoma) |
| Normal role description: | EXT1 encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Defects in the gene are implicated in hereditary multiple exostoses type 1 (EXT1); a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19. The disease is characterized by formation of numerous cartilage-capped, benign bone tumours, often together with skeletal abnormalities and a short stature. Loss of functional copies of the gene is the cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2), with clinical features such as dysmorphic facial features and mental retardation. Furthermore, defects of the gene are also implicated in chondrosarcoma. |
| Commentary on involvement of protein in cancer: | 2/145 lung cancer samples were also mutated (Sanger COSMIC) |