serine/threonine protein kinase B-raf; proto-oncogene B-Raf; p94; v-Raf murine sarcoma viral oncogene homolog B1 (BRAF BRAF1 RAFB1)
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Function
- role in the transduction of mitogenic signals from the cell membrane to the nucleus
- may play a role in the postsynaptic responses of hippocampal neurons
- interacts with RIT1 (putative)
Cofactor: binds two Zn+2 per subunit (putative)
Structure
- belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family, RAF subfamily
- contains 1 phorbol-ester/DAG-type Zn+2 finger
- contains 1 protein kinase domain
- contains 1 RBD (Ras-binding) domain
Compartment
Expression
brain & testis
Pathology
- defects in BRAF are a cause of cardiofaciocutaneous syndrome
- defects in BRAF are found in Noonan syndrome & LEOPARD syndrome that have overlapping features with cardiofaciocutaneous syndrome
- defects in BRAF are found in a wide range of cancers
- defects in BRAF are involved in lung cancer
- defects in BRAF may be a cause of colorectal cancer
- defects in BRAF are involved in non-Hodgkin's lymphoma
- point mutations in B-raf gene occur in 66% of patients with melanoma[6]
Laboratory
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P15056.html
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/BRAFID828.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/BRAF
- ↑ Stephens RM, Sithanandam G, Copeland TD, Kaplan DR, Rapp UR, Morrison DK. 95-kilodalton B-Raf serine/threonine kinase: identification of the protein and its major autophosphorylation site. Mol Cell Biol. 1992 Sep;12(9):3733-42. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1508179
- ↑ Vojtek AB, Hollenberg SM, Cooper JA. Mammalian Ras interacts directly with the serine/threonine kinase Raf. Cell. 1993 Jul 16;74(1):205-14. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8334704
- ↑ 6.0 6.1 Journal Watch 22(16):128, 2002 Davies H et al Mutations of the BRAF gene in human cancer. Nature 417:949, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/12068308
Pollock PM, Meltzer PS. Lucky draw in the gene raffle. Nature. 2002 Jun 27;417(6892):906-7. PMID: https://www.ncbi.nlm.nih.gov/pubmed/12087387
Dong J, et al BRAF oncogenic mutations correlate with progression rather than initiation of human melanoma. Cancer Res. 2003 Jul 15;63(14):3883-5. PMID: https://www.ncbi.nlm.nih.gov/pubmed/12873977
Pollock PM & Meltzer PS, A genome-based strategy uncovers frequent BRAF mutations in melanoma. Cancer Cell. 2002 Jul;2(1):5-7. PMID: https://www.ncbi.nlm.nih.gov/pubmed/12150818
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=673
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:673
- OMIM: https://mirror.omim.org/entry/114500
- OMIM: https://mirror.omim.org/entry/115150
- OMIM: https://mirror.omim.org/entry/164757
- OMIM: https://mirror.omim.org/entry/211980
- OMIM: https://mirror.omim.org/entry/605027
- UniProt: http://www.uniprot.org/uniprot/P15056.html