BRAF

BRAF ;
BRAF1 ;
RAFB1 ;
Serine/threonine-protein kinase B-raf ;
Proto-oncogene B-Raf ;
p94 ;
v-Raf murine sarcoma viral oncogene homolog B1

catalytic activity:ATP + a protein = ADP + a phosphoprotein. ,cofactor:Binds 2 zinc ions per subunit. ,disease:Defects in BRAF are a cause of cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]; also known as cardio-facio-cutaneous syndrome. CFC syndrome is characterized by a distinctive facial appearance , heart defects and mental retardation. Heart defects include pulmonic stenosis , atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse , friable hair , hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction , hypoplastic supraorbital ridges , downslanting palpebral fissures , a depressed nasal bridge , and posteriorly angulated ears with prominent helices. The inheritance of CFC syndrome is autosomal dominant. ,disease:Defects in BRAF are involved in a wide range of cancers. ,disease:Defects in BRAF are involved in lung cancer [MIM:211980]. ,disease:Defects in BRAF are involved in non-Hodgkin lymphoma (NHL) [MIM:605027]. NHL is a cancer that starts in cells of the lymph system , which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes , fever and weight loss. ,disease:Defects in BRAF may be a cause of colorectal cancer (CRC) [MIM:114500]. ,function: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. ,similarity:Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily. ,similarity:Contains 1 phorbol-ester/DAG-type zinc finger. ,similarity:Contains 1 protein kinase domain. ,similarity:Contains 1 RBD (Ras-binding) domain. ,subunit:Interacts with RIT1. ,tissue specificity:Brain and testis. ,

MAPKKK cascade , protein complex assembly , protein amino acid phosphorylation , phosphorus metabolic process ,phosphate metabolic process , anti-apoptosis , intracellular signaling cascade , protein kinase cascade , small GTPase mediated signal transduction , regulation of cell death , phosphorylation , regulation of apoptosis , negative regulation of apoptosis , regulation of programmed cell death , negative regulation of programmed cell death , macromolecular complex subunit organization , protein oligomerization , protein heterooligomerization , negative regulation of cell death , macromolecular complex assembly , protein complex biogenesis ,

Nucleus . Cytoplasm . Cell membrane . Colocalizes with RGS14 and RAF1 in both the cytoplasm and membranes. .