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: | PRKAR1A |
| Gene Name: | PRKAR1A |
| Protein Full Name: | cAMP-dependent protein kinase type I-alpha regulat |
| Alias: | CAMP-dependent protein kinase type I-alpha regulatory chain; KAP0; PKA R1-alpha; PKR1; PRKAR1; PRKAR1A; Protein kinase, cAMP-dependent, regulatory, type I, alpha; Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1); Tissue specific extinguisher 1; Tissue-specific extinguisher-1; TSE1 |
| Mass (Da): | 42982 |
| Number AA: | 381 |
| UniProt ID: | P10644 |
| Locus ID: | 5573 |
| COSMIC ID: | PRKAR1A |
| Gene location on chromosome: | 17.q22-24 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 22112 |
| Percent of cancer specimens with mutations: | 0.38 |
| Mutations observed as inherited: | multiple endocrine neoplasia. Carney complex syndrome, type I |
| Deregulated in translocations: | Reciprocal translocation between chromosomes 10 and 17 - RET/PTC2. The fusion of the RET tyrosine kinase domain with a portion of the RIA gene leads to the expression of RET in the thyroid cells, where it is normally transcriptionally silent. |
| Normal role description: | PRKAR1A is a protein-serine/threonine kinase - regulatory subunit. cAMP binds to the regulatory subunit of PKA releasing PKA catalytic subunit resulting in activation of the PKA signalling pathway. Mutations causing loss of function lead to constituent activation of PKA and disregulation of the PKA signalling pathway. No mutations leading to decreased PKA activity have been described. |