NP_004324.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
Molecular Weight
84,437 Da
NCBI Official Full Name
serine/threonine-protein kinase B-raf
UniProt Protein Name
Serine/threonine-protein kinase B-raf
UniProt Synonym Protein Names
Proto-oncogene B-Raf; p94; v-Raf murine sarcoma viral oncogene homolog B1
UniProt Synonym Gene Names
UniProt Entry Name
BRAF_HUMAN
NCBI Summary for BRAF
This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for BRAF
BRAF: a tyrosine kinase-like kinase of the RAF family. Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Frequently mutated in thyroid cancers, skin melanomas and at lower frequency in a wide range of human cancers. An activating mutation, mimicking phosphorylation of the activation loop, is seen in 60% of malignant melanoma samples. Raf mutations are generally exclusive to Ras activating mutations. Activating mutations are also seen in ~10% of colorectal cancers, in lung cancers and gliomas, and at a lower rate in several other tumors. Inactivating mutations are also seen and may result in activation of c-Raf and Erk. Mutations in B-Raf, MEK1 and MEK2 also associated with cardiofaciocutaneous syndrome, displaying morphological, cardiac and mental defects. Approved Inhibitor: Nexavar/Sorafenib.
Protein type: Kinase, protein; Protein kinase, Ser/Thr (non-receptor); Protein kinase, TKL; EC 2.7.11.1; Oncoprotein; TKL group; RAF family
Chromosomal Location of Human Ortholog: 7q34
Cellular Component: neuron projection; mitochondrion; plasma membrane; cytosol; nucleus
Molecular Function: small GTPase binding; protein serine/threonine kinase activity; identical protein binding; protein binding; MAP kinase kinase kinase activity; mitogen-activated protein kinase kinase binding; protein heterodimerization activity; calcium ion binding; ATP binding; protein kinase activity
Biological Process: response to peptide hormone stimulus; positive T cell selection; fibroblast growth factor receptor signaling pathway; response to cAMP; activation of MAPKK activity; nerve growth factor receptor signaling pathway; CD4-positive, alpha beta T cell differentiation; protein heterooligomerization; somatic stem cell maintenance; MAPKKK cascade; protein amino acid phosphorylation; positive regulation of peptidyl-serine phosphorylation; regulation of cell proliferation; synaptic transmission; organ morphogenesis; myeloid progenitor cell differentiation; small GTPase mediated signal transduction; positive regulation of stress fiber formation; visual learning; negative regulation of neuron apoptosis; negative regulation of apoptosis
Disease: Noonan Syndrome 1; Lung Cancer; Noonan Syndrome 7; Cardiofaciocutaneous Syndrome 1; Leopard Syndrome 3
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