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: | TWIST1 |
| Gene Name: | TWIST1 |
| Protein Full Name: | Twist-related protein 1 |
| Alias: | Acrocephalosyndactyly 3; ACS3; B-HLH DNA binding protein; Blepharophimosis, epicanthus inversus and ptosis 3; Blepharophimosis, epicanthus inversus, and ptosis 2; BPES2; BPES3; H-twist; Saethre-Chotzen syndrome); SCS; TWIST; Twist homolog 1 (acrocephalosyndactyly 3; TWST1 |
| Mass (Da): | 20954 |
| Number AA: | 202 |
| UniProt ID: | Q15672 |
| Locus ID: | 7291 |
| COSMIC ID: | TWIST1 |
| Gene location on chromosome: | 7p21.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20149 |
| Percent of cancer specimens with mutations: | 0.19 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | TWIST1 is a transcriptional regulator that can repress pro-inflammatory cytokine expression such as TNFalpha and IL1B via interaction with Rela. It appears to be essential for mammary carcinoma metastasis, as suppression of a highly invasive cell line inhibited its metastatic ability to the lung. Ectopic expression led to the loss of E-cadherin-mediated cell-cell adhesion and induction of cell motility by promoting epithelial-mesenchymal transition. TWIST1 can also suppress p53 activity by altering its phosphorylation and affecting cell cycle progression. It can also prevent apoptosis by inhibiting Myc. Overexpression has been noted in multiple cancers. |