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BRAF B-Raf proto-oncogene, serine/threonine kinase [ Homo sapiens (human) ]

Gene ID: 673, updated on 29-Mar-2020

Summary

Official Symbol
BRAFprovided by HGNC
Official Full Name
B-Raf proto-oncogene, serine/threonine kinaseprovided by HGNC
Primary source
HGNC:HGNC:1097
See related
Ensembl:ENSG00000157764 MIM:164757
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NS7; B-raf; BRAF1; RAFB1; B-RAF1
Summary
This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
Expression
Ubiquitous expression in testis (RPKM 6.6), brain (RPKM 5.3) and 25 other tissues See more
Orthologs

Genomic context

See BRAF in Genome Data Viewer
Location:
7q34
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (140713328..140924929, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (140415749..140624564, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NDUFB2 antisense RNA 1 Neighboring gene aarF domain containing kinase 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit B2 Neighboring gene RNA, U6 small nuclear 85, pseudogene Neighboring gene uncharacterized LOC105375536 Neighboring gene uncharacterized LOC107986720 Neighboring gene chaperonin containing TCP1 subunit 4 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cardiofaciocutaneous syndrome 1
MedGen: CN029449 OMIM: 115150 GeneReviews: Cardiofaciocutaneous Syndrome
Compare labs
Dabrafenib response
MedGen: CN239586 GeneReviews: Not available
not available
LEOPARD syndrome 3 Compare labs
Lung cancer
MedGen: C0684249 OMIM: 211980 GeneReviews: Not available
Compare labs
Noonan syndrome 1
MedGen: C4551602 OMIM: 163950 GeneReviews: Noonan Syndrome
Compare labs
Noonan syndrome 7
MedGen: C3150970 OMIM: 613706 GeneReviews: Noonan Syndrome
Compare labs
Vemurafenib response
MedGen: CN239577 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2014-08-04)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2014-08-04)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ95109, MGC126806, MGC138284

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
serine/threonine-protein kinase B-raf
Names
94 kDa B-raf protein
B-Raf proto-oncogene serine/threonine-protein kinase (p94)
B-Raf serine/threonine-protein
murine sarcoma viral (v-raf) oncogene homolog B1
proto-oncogene B-Raf
v-raf murine sarcoma viral oncogene homolog B
v-raf murine sarcoma viral oncogene homolog B1
NP_001341538.1
NP_001361173.1
NP_001361187.1
NP_001365396.1
NP_001365397.1
NP_001365398.1
NP_001365399.1
NP_001365400.1
NP_001365401.1
NP_001365402.1
NP_001365403.1
NP_001365404.1
NP_004324.2
XP_016868048.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007873.3 RefSeqGene

    Range
    5001..195753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_299

mRNA and Protein(s)

  1. NM_001354609.2NP_001341538.1  serine/threonine-protein kinase B-raf isoform 2

    Status: REVIEWED

    Source sequence(s)
    AA975673, AC006006, AC006344, AC006347
    Consensus CDS
    CCDS87555.1
    Related
    ENSP00000419060.2, ENST00000496384.7
    Conserved Domains (3) summary
    cd01816
    Location:156227
    Raf_RBD; Ubiquitin domain of Raf serine/threonine kinases
    cd14062
    Location:463715
    STKc_Raf; Catalytic domain of the Serine/Threonine Kinases, Raf (Rapidly Accelerated Fibrosarcoma) kinases
    pfam00130
    Location:235280
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
  2. NM_001374244.1NP_001361173.1  serine/threonine-protein kinase B-raf isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
    Related
    ENSP00000288602.7, ENST00000288602.11
  3. NM_001374258.1NP_001361187.1  serine/threonine-protein kinase B-raf isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
    Related
    ENSP00000496776.1, ENST00000644969.1
  4. NM_001378467.1NP_001365396.1  serine/threonine-protein kinase B-raf isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
  5. NM_001378468.1NP_001365397.1  serine/threonine-protein kinase B-raf isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
  6. NM_001378469.1NP_001365398.1  serine/threonine-protein kinase B-raf isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
  7. NM_001378470.1NP_001365399.1  serine/threonine-protein kinase B-raf isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
  8. NM_001378471.1NP_001365400.1  serine/threonine-protein kinase B-raf isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
  9. NM_001378472.1NP_001365401.1  serine/threonine-protein kinase B-raf isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
  10. NM_001378473.1NP_001365402.1  serine/threonine-protein kinase B-raf isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
  11. NM_001378474.1NP_001365403.1  serine/threonine-protein kinase B-raf isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
  12. NM_001378475.1NP_001365404.1  serine/threonine-protein kinase B-raf isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AC006347
  13. NM_004333.6NP_004324.2  serine/threonine-protein kinase B-raf isoform 1

    See identical proteins and their annotated locations for NP_004324.2

    Status: REVIEWED

    Source sequence(s)
    AC006006, AC006344, AW971583, BC101757, DB454480, M95712
    Consensus CDS
    CCDS5863.1
    UniProtKB/Swiss-Prot
    P15056
    Related
    ENSP00000493543.1, ENST00000646891.1
    Conserved Domains (3) summary
    cd01816
    Location:156227
    Raf_RBD; Ubiquitin domain of Raf serine/threonine kinases
    cd14062
    Location:463715
    STKc_Raf; Catalytic domain of the Serine/Threonine Kinases, Raf (Rapidly Accelerated Fibrosarcoma) kinases
    pfam00130
    Location:235280
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    140713328..140924929 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012559.1XP_016868048.1  serine/threonine-protein kinase B-raf isoform X2

RNA

  1. XR_001744858.1 RNA Sequence

  2. XR_001744857.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_148928.2: Suppressed sequence

    Description
    NR_148928.2: This RefSeq was removed because currently there is insufficient support for the transcript.
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