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: | CRTC1 |
| Gene Name: | CRTC1 |
| Protein Full Name: | CREB-regulated transcription coactivator 1 |
| Alias: | CREB regulated transcription coactivator 1; CRTC1; FLJ14027; KIAA0616; Mucoepidermoid carcinoma translocated protein 1; TORC1; Transducer of CREB protein 1 |
| Mass (Da): | 67300 |
| Number AA: | 634 |
| UniProt ID: | Q6UUV9 |
| Locus ID: | 23373 |
| COSMIC ID: | CRTC1 |
| Gene location on chromosome: | 19p13.11 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20937 |
| Percent of cancer specimens with mutations: | 0.56 |
| Deregulated in translocations: | Mucoepidermoid carcinoma; benign Warthin's tumor; clear cell hidradenoma of the skin. Fusion partner is MAML2 |
| Normal role description: | CRTC1 is a transcriptional co-activator which binds cAMP responsive element binding protein 1 (CREB1) to stimulate transcription of target genes by activating CRE promoter regions. CREB signalling is in response to growth or stress signals and is mediated by secondary messengers cAMP or Ca2+. CRTC1 binds CREB1 as a homotetramer and appears to activate transcription by enhancing the interaction of CREB1 with the TAF4 transcription initiation factor. CRTC1 is regulated by the activity of Brk non-receptor tyrosine kinases which function to inhibit CRTC1 binding of CREB. Chromosomal abnormalities leading to CRTC1 fusion with MAML2 has been implicated in malignant salivary gland carcinomas. The CRTC1-MAML2 fusion protein was found to bind and activate CREB signalling as well as activate Notch responsive genes independent of a Notch and CSL signal. Constitutive activation of these pathways by the CRTC1-MAML2 fusion appear to cause the cancer phenotype. |
| Commentary on involvement of protein in cancer: | All mutations in sanger database occurred in less then 3% of samples. |