B-Raf (Ser-446) (BRAF) Antibody – Rabbit Polyclonal

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]

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.

Catalytic activity: ATP + a protein = ADP + a phosphoprotein.

Cofactor: Binds 2 zinc ions per subunit

Subunit structure: Found in a complex with at least BRAF, HRAS1, MAP2K1, MAPK3 and RGS14. Interacts with RIT1. Interacts (via N-terminus) with RGS14 (via RBD domains); the interaction mediates the formation of a ternary complex with RAF1, a ternary complex inhibited by GNAI1

Subcellular location: Nucleus

By similarity. Cytoplasm. Cell membrane

By similarity. Note: Colocalizes with RGS14 and RAF1 in both the cytoplasm and membranes

Tissue specificity: Brain and testis.

Involvement in disease: Note=Defects in BRAF are found in a wide range of cancers. Ref.10Defects in BRAF may be a cause of colorectal cancer (CRC) [

MIM:114500]. Ref.10Defects in BRAF are involved in lung cancer (LNCR) [

MIM:211980]. Ref.10 Ref.23Defects 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. Ref.10 Ref.26Defects 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. Ref.10Defects in BRAF are the cause of Noonan syndrome type 7 (NS7) [

MIM:613706]. Noonan syndrome is a disorder characterized by facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears. Other features can include short stature, a short neck with webbing or redundancy of skin, cardiac anomalies, deafness, motor delay and variable intellectual deficits. Ref.10 Ref.33Defects in BRAF are the cause of LEOPARD syndrome type 3 (LEOPARD3) [

MIM:613707]. LEOPARD3 is a disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. Ref.10 Ref.33Note=A chromosomal aberration involving BRAF is found in pilocytic astrocytomas. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation. Ref.10

Sequence similarities: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily.Contains 1 phorbol-ester/DAG-type zinc finger.Contains 1 protein kinase domain.Contains 1 RBD (Ras-binding) domain.

Sequence caution: The sequence AAD43193.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAQ43111.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence CAQ43112.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence CAQ43113.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence CAQ43114.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence CAQ43115.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence CAQ43116.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.