BRAF
entrez
673
canonical
uniprot
P15056
canonical
ensembl
ENSG00000157764
resolver
ensp
ENSP00000288602
resolver
ensp
ENSP00000419060
resolver
ensp
ENSP00000493543
resolver
ensp
ENSP00000494784
resolver
ensp
ENSP00000496776
resolver
ensp
ENSP00000582660
resolver
ensp
ENSP00000614304
resolver
ensp
ENSP00000665526
resolver
enst
ENST00000288602
resolver
enst
ENST00000496384
resolver
enst
ENST00000644969
resolver
enst
ENST00000646891
resolver
genesymbol
BRAF
resolver
genesymbol_syn
BRAF1
resolver
genesymbol_syn
RAFB1
resolver
hgnc
HGNC:1097
resolver
uniprot
A0A2R8Y8E0
resolver
uniprot
A0A2U3TZI2
resolver
uniprot
A4D1T4
resolver
uniprot
B6HY61
resolver
uniprot
B6HY62
resolver
uniprot
B6HY63
resolver
uniprot
B6HY64
resolver
uniprot
B6HY65
resolver
uniprot
B6HY66
resolver
uniprot
H7C560
resolver
uniprot
Q13878
resolver
uniprot
Q3MIN6
resolver
uniprot
Q9UDP8
resolver
uniprot
Q9Y6T3
resolver
uniprot_entry
A0A2R8Y8E0_HUMAN
resolver
uniprot_entry
A0A2U3TZI2_HUMAN
resolver
uniprot_entry
BRAF_HUMAN
resolver
uniprot_entry
H7C560_HUMAN
resolver
uniprot_sec
A4D1T4
resolver
uniprot_sec
B6HY61
resolver
uniprot_sec
B6HY62
resolver
uniprot_sec
B6HY63
resolver
uniprot_sec
B6HY64
resolver
uniprot_sec
B6HY65
resolver
uniprot_sec
B6HY66
resolver
uniprot_sec
Q13878
resolver
uniprot_sec
Q3MIN6
resolver
uniprot_sec
Q9UDP8
resolver
uniprot_sec
Q9Y6T3
resolver
activity_regulation
ACTIVITY REGULATION: In quiescent cells, maintained in an inactive state via an intramolecular interaction between the protein kinase and N-terminal domains. Following mitogen-mediated cell activation, binds via its RGB domain to active HRAS (GTP-bound) which releases the inhibitory intramolecular interaction between the two domains. This allows the MAP2K1-mediated dimerization of KSR1 or KSR2, and BRAF which activates BRAF. {ECO:0000269|PubMed:29433126}.
uniprot
proteins
amino_acid_sequence
MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEHIEALLDKFGGEHNPPSIYLEAYEEYTSKLDALQQREQQLLESLGNGTDFSVSSSASMDTVTSSSSSSLSVLPSSLSVFQNPTDVARSNPKSPQKPIVRVFLPNKQRTVVPARCGVTVRDSLKKALMMRGLIPECCAVYRIQDGEKKPIGWDTDISWLTGEELHVEVLENVPLTTHNFVRKTFFTLAFCDFCRKLLFQGFRCQTCGYKFHQRCSTEVPLMCVNYDQLDLLFVSKFFEHHPIPQEEASLAETALTSGSSPSAPASDSIGPQILTSPSPSKSIPIPQPFRPADEDHRNQFGQRDRSSSAPNVHINTIEPVNIDDLIRDQGFRGDGGSTTGLSATPPASLPGSLTNVKALQKSPGPQRERKSSSSSEDRNRMKTLGRRDSSDDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVTAPTPQQLQAFKNEVGVLRKTRHVNILLFMGYSTKPQLAIVTQWCEGSSLYHHLHIIETKFEMIKLIDIARQTAQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATVKSRWSGSHQFEQLSGSILWMAPEVIRMQDKNPYSFQSDVYAFGIVLYELMTGQLPYSNINNRDQIIFMVGRGYLSPDLSKVRSNCPKAMKRLMAECLKKKRDERPLFPQILASIELLARSLPKIHRSASEPSLNRAGFQTEDFSLYACASPKTPIQAGGYGAFPVH
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in BRAF are found in a wide range of cancers. {ECO:0000269|PubMed:18974108}.; DISEASE: Colorectal cancer (CRC) [MIM:114500]: 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. {ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:21917714, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Lung cancer (LNCR) [MIM:211980]: 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. {ECO:0000269|PubMed:12460919}. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Familial non-Hodgkin lymphoma (NHL) [MIM:605027]: 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. {ECO:0000269|PubMed:14612909}. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]: 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. {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Noonan syndrome 7 (NS7) [MIM:613706]: 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. {ECO:0000269|PubMed:19206169}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: LEOPARD syndrome 3 (LPRD3) [MIM:613707]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:19206169}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=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. {ECO:0000269|PubMed:18974108}.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
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). {ECO:0000269|PubMed:1508179, ECO:0000269|PubMed:21441910, ECO:0000269|PubMed:29433126, ECO:0000269|PubMed:36402789, ECO:0000305}.
uniprot
proteins
mass_dalton
84437
uniprot
proteins
mutagenesis
MUTAGEN 53; /note="M->D: Reduces interaction with KSR1 and MAP2K1 and thus phosphorylation of MAP2K1."; /evidence="ECO:0000269|PubMed:29433126"; MUTAGEN 88; /note="K->E: Reduces interaction with KSR1 and MAP2K1 and thus phosphorylation of MAP2K1."; /evidence="ECO:0000269|PubMed:29433126"; MUTAGEN 483; /note="K->S: Reduces kinase activity with MAP2K1."; /evidence="ECO:0000269|PubMed:21441910"; MUTAGEN 509; /note="R->H: Loss of MAP2K1-mediated-BRAF-KSR1 dimerization."; /evidence="ECO:0000269|PubMed:29433126"; MUTAGEN 578; /note="K->R: Blocks EGF-induced ubiquitination and ERK activation."; /evidence="ECO:0000269|PubMed:23907581"; MUTAGEN 666; /note="I->R: No effect on MAP2K1-mediated-BRAF-KSR1 dimerization, however loss of BRAF-mediated phosphorylation of MAP2K1."; /evidence="ECO:0000269|PubMed:29433126"; MUTAGEN 671; /note="R->K: Increased kinase activity and stability in response to EGF treatment."; /evidence="ECO:0000269|PubMed:21917714
uniprot
proteins
post_translational_modification
PTM: 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). {ECO:0000269|PubMed:11410590, ECO:0000269|PubMed:19710016, ECO:0000269|PubMed:35768504, ECO:0000269|PubMed:35830882, ECO:0000269|Ref.8}.; PTM: Methylation at Arg-671 decreases stability and kinase activity. {ECO:0000269|PubMed:21917714}.; PTM: Ubiquitinated by RNF149; which leads to proteasomal degradation. Polyubiquitinated at Lys-578 in response to EGF. {ECO:0000269|PubMed:22628551, ECO:0000269|PubMed:23907581}.
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
RAF subfamily
uniprot
proteins
protein_family
TKL Ser/Thr protein kinase family
uniprot
proteins
pubmed
11410590
uniprot
proteins
pubmed
12068308
uniprot
proteins
pubmed
12198537
uniprot
proteins
pubmed
12460919
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14500344
uniprot
proteins
pubmed
14612909
uniprot
proteins
pubmed
1508179
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1630826
uniprot
proteins
pubmed
16439621
uniprot
proteins
pubmed
16474404
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18042262
uniprot
proteins
pubmed
18287029
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
18974108
uniprot
proteins
pubmed
19206169
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19710016
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21102438
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21441910
uniprot
proteins
pubmed
21917714
uniprot
proteins
pubmed
22628551
uniprot
proteins
pubmed
2284096
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23263490
uniprot
proteins
pubmed
23907581
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24455489
uniprot
proteins
pubmed
27353360
uniprot
proteins
pubmed
29433126
uniprot
proteins
pubmed
3043188
uniprot
proteins
pubmed
31024343
uniprot
proteins
pubmed
35768504
uniprot
proteins
pubmed
35830882
uniprot
proteins
pubmed
36402789
uniprot
proteins
sequence_length
766
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:19710016}. Cell membrane {ECO:0000269|PubMed:19710016}. Note=Colocalizes with RGS14 and RAF1 in both the cytoplasm and membranes. {ECO:0000250}.
uniprot
proteins