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serine/threonine protein kinase B-raf; proto-oncogene B-Raf; p94; v-Raf murine sarcoma viral oncogene homolog B1 (BRAF BRAF1 RAFB1)

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: cytoplasm 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: - serine/threonine protein kinase B-raf in tissue

Related

B-raf1 proto-oncogene or B-raf proto-oncogene

General

raf proto-oncogene protein or mil proto-oncogene protein zinc finger protein

Properties

SIZE: entity length = 766 aa MW = 84 kD COMPARTMENT: cytoplasm MOTIF: acetylation site SITE: N-TERMINUS EFFECTOR-BOUND: acetyl glycine-rich region {6-11} serine-rich region {122-129} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S151} RBD {155-227} Zinc finger NAME: Zinc finger SITE: 234-280 EFFECTOR-BOUND: Zn+2 MOTIF: Zn+2-binding site SITE: 235-235 Zn+2-binding site SITE: 248-248 Zn+2-binding site SITE: 251-251 Zn+2-binding site SITE: 261-261 Zn+2-binding site SITE: 264-264 Zn+2-binding site SITE: 269-269 Zn+2-binding site SITE: 272-272 Zn+2-binding site SITE: 280-280 Ser phosphorylation site {S365} Thr phosphorylation site {T373} Thr phosphorylation site {T396} Ser phosphorylation site {S399} Thr phosphorylation site {T401} Ser phosphorylation site {S419} serine-rich region {428-432} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S446} Ser phosphorylation site {S447} kinase domain SITE: 457-717 MOTIF: ATP-binding site NAME: ATP-binding site SITE: 463-471 Ser phosphorylation site {S465} ATP-binding site NAME: ATP-binding site SITE: 483-483 aspartate residue {D576} Ser phosphorylation site {S614} Ser phosphorylation site {S729} Ser phosphorylation site {S750} STATE: active state

Database Correlations

OMIM correlations MORBIDMAP 164757 UniProt P15056 PFAM correlations Entrez Gene 673 Kegg hsa:673 ENZYME 2.7.11.1

References

  1. UniProt :accession P15056
  2. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/BRAFID828.html
  3. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/BRAF
  4. 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: 1508179
  5. 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: 8334704
  6. Journal Watch 22(16):128, 2002 Davies H et al Mutations of the BRAF gene in human cancer. Nature 417:949, 2002 PMID: 12068308 - Pollock PM, Meltzer PS. Lucky draw in the gene raffle. Nature. 2002 Jun 27;417(6892):906-7. PMID: 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: 12873977 - Pollock PM & Meltzer PS, A genome-based strategy uncovers frequent BRAF mutations in melanoma. Cancer Cell. 2002 Jul;2(1):5-7. PMID: 12150818