BRAF
GeneName
BRAF
Summary
BRAF, also known as B Raf or p94, is a 84 kDa protein that functions as a serine/threonine kinase and is a critical component of the MAPK signalling pathway. It is expressed in various tissues, including the brain and immune cells, and is involved in processes such as cell growth, differentiation, and apoptosis. BRAF localises to multiple cellular components, including the cytoplasm, nucleus, and plasma membrane, and plays a significant role in the regulation of ERK1 and ERK2 cascade, which is essential for transmitting signals from growth factors. Additionally, BRAF is implicated in neuronal functions such as long-term synaptic potentiation and axon regeneration.
Importance
BRAF is relevant to: - Cancer research due to its frequent mutations in various malignancies, particularly melanoma, making it a target for specific inhibitors. - Immune response modulation, as it influences T cell differentiation and activation. - Neurobiology, given its role in synaptic transmission and plasticity, which are vital for learning and memory. - Developmental biology, as it is involved in organ morphogenesis and various developmental processes in tissues such as the thymus and thyroid gland.
Top Products
For researchers investigating BRAF, we highly recommend the top-selling recombinant antibody, Anti-BRAF antibody [EP152Y] (ab33899). This well-cited antibody has garnered 39 citations, reflecting its reliability and trust within the research community. It has been validated in knockout models and is suitable for a variety of applications, including Western blotting (WB), immunohistochemistry (IHC), and immunoprecipitation (IP). This versatility makes it an excellent choice for those seeking consistent and effective detection of BRAF in their studies.
Abcam Product Citation Summary
The data indicates that the BRAF antibody ab33899 was employed in a study focusing on the regulation of the RAF-MAPK signalling pathway, specifically in human TE1 cells. This suggests a research context that may be relevant for understanding cancer biology and therapeutic targets.
Abcam Product Citation Table
Function
Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosphorylates PFKFB2 (PubMed:36402789). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179).
Involvement in disease
Defects in BRAF are found in a wide range of cancers.
Colorectal cancer
CRC
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
None
The disease may be caused by variants affecting the gene represented in this entry.
Lung cancer
LNCR
A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.
None
The gene represented in this entry is involved in disease pathogenesis.
Familial non-Hodgkin lymphoma
NHL
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.
None
The gene represented in this entry is involved in disease pathogenesis.
Cardiofaciocutaneous syndrome 1
CFC1
A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Noonan syndrome 7
NS7
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.
None
The disease is caused by variants affecting the gene represented in this entry.
LEOPARD syndrome 3
LPRD3
A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
Post-translational modifications
Phosphorylation at Ser-365 by SGK1 inhibits its activity (Ref.8, PubMed:11410590). Phosphorylation at Thr-753 by MAPK1 (PubMed:19710016). Dephosphorylation of Ser-365 by the SHOC2-MRAS-PP1c (SMP) complex consisting of SHOC2, GTP-bound M-Ras/MRAS and the catalytic subunit of protein phosphatase 1 (PPP1CA, PPP1CB or PPP1CC); this relieves inactivation and stimulates kinase activity (PubMed:35768504, PubMed:35830882).
Methylation at Arg-671 decreases stability and kinase activity.
Ubiquitinated by RNF149; which leads to proteasomal degradation. Polyubiquitinated at Lys-578 in response to EGF.
Sequence Similarities
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily.
Tissue Specificity
Brain and testis.
Cellular localization
- Nucleus
- Cytoplasm
- Cell membrane
- Colocalizes with RGS14 and RAF1 in both the cytoplasm and membranes.
Alternative names
BRAF1, RAFB1, BRAF, Serine/threonine-protein kinase B-raf, Proto-oncogene B-Raf, p94, v-Raf murine sarcoma viral oncogene homolog B1
Database links
swissprot:P15056 omim:164757 omim:613344 swissprot:O43295 swissprot:Q9HCM3 entrezGene:673 entrezGene:57670
Other research areas
- Immuno-oncology