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

    Gene ID: 673, updated on 30-Jun-2015
    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; HPRD:01264; MIM:164757; Vega:OTTHUMG00000157457
    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; BRAF1; RAFB1; B-RAF1
    Summary
    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, Jul 2008]
    Orthologs
    See BRAF in Epigenomics, MapViewer
    Location:
    7q34
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (140715951..140924764, 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 dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa Neighboring gene uncharacterized LOC105375536 Neighboring gene chaperonin containing TCP1, subunit 4 (delta) pseudogene 1 Neighboring gene mitochondrial ribosomal protein S33

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Cardio-facio-cutaneous syndrome
    MedGen: C1275081 OMIM: 115150 GeneReviews: Cardiofaciocutaneous Syndrome
    Compare labs
    LEOPARD syndrome 3
    MedGen: C3150971 OMIM: 613707 GeneReviews: Not available
    Compare labs
    Lung cancer
    MedGen: C0684249 OMIM: 211980 GeneReviews: Not available
    Compare labs
    Noonan syndrome 1
    MedGen: C0041409 OMIM: 163950 GeneReviews: Noonan Syndrome
    Compare labs
    Noonan syndrome 7
    MedGen: C3150970 OMIM: 613706 GeneReviews: Noonan Syndrome
    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
    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    MAP kinase kinase kinase activity 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 
    mitogen-activated protein kinase kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    CD4-positive, alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    activation of MAPKK activity TAS
    Traceable Author Statement
    more info
     
    cellular response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of protein localization to membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    glucose transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    head morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    myeloid progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endothelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of fibroblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of synaptic vesicle exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    neurotrophin TRK receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    positive T cell selection IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of stress fiber assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of substrate adhesion-dependent cell spreading IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    somatic stem cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell body IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    serine/threonine-protein kinase B-raf
    Names
    94 kDa B-raf protein
    B-Raf proto-oncogene serine/threonine-protein kinase (p94)
    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_004324.2

    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_004333.4NP_004324.2  serine/threonine-protein kinase B-raf

      See identical proteins and their annotated locations for NP_004324.2

      Status: REVIEWED

      Source sequence(s)
      AA252358, AW971583, BC101757, DB454480, M95712
      Consensus CDS
      CCDS5863.1
      UniProtKB/Swiss-Prot
      P15056
      Related
      ENSP00000288602, OTTHUMP00000212184, ENST00000288602, OTTHUMT00000348886
      Conserved Domains (4) summary
      cd01816
      Location:156227
      Raf_RBD; Ubiquitin domain of Raf serine/threonine kinases
      cd00029
      Location:235280
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam00069
      Location:457713
      Pkinase; Protein kinase domain
      cd14062
      Location:463715
      STKc_Raf; Catalytic domain of the Serine/Threonine Kinases, Raf (Rapidly Accelerated Fibrosarcoma) kinases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

      Range
      140715951..140924764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516529.1XP_011514831.1  

      Conserved Domains (4) summary
      cd01816
      Location:156227
      Raf_RBD; Ubiquitin domain of Raf serine/threonine kinases
      cd00029
      Location:235280
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam00069
      Location:457710
      Pkinase; Protein kinase domain
      cd14062
      Location:463710
      STKc_Raf; Catalytic domain of the Serine/Threonine Kinases, Raf (Rapidly Accelerated Fibrosarcoma) kinases
    2. XM_005250046.1XP_005250103.1  

      See identical proteins and their annotated locations for XP_005250103.1

      Conserved Domains (4) summary
      cd01816
      Location:156227
      Raf_RBD; Ubiquitin domain of Raf serine/threonine kinases
      cd00029
      Location:235280
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam00069
      Location:457709
      Pkinase; Protein kinase domain
      cd14062
      Location:463709
      STKc_Raf; Catalytic domain of the Serine/Threonine Kinases, Raf (Rapidly Accelerated Fibrosarcoma) kinases
    3. XM_005250045.1XP_005250102.1  

      See identical proteins and their annotated locations for XP_005250102.1

      Conserved Domains (4) summary
      cd01816
      Location:156227
      Raf_RBD; Ubiquitin domain of Raf serine/threonine kinases
      cd00029
      Location:235280
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam00069
      Location:457713
      Pkinase; Protein kinase domain
      cd14062
      Location:463715
      STKc_Raf; Catalytic domain of the Serine/Threonine Kinases, Raf (Rapidly Accelerated Fibrosarcoma) kinases
    4. XM_011516530.1XP_011514832.1  

      Conserved Domains (3) summary
      cd01816
      Location:156227
      Raf_RBD; Ubiquitin domain of Raf serine/threonine kinases
      cd00029
      Location:235280
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cl21453
      Location:448569
      PKc_like; Protein Kinases, catalytic domain

    RNA

    1. XR_927522.1 RNA Sequence

    2. XR_927523.1 RNA Sequence

    3. XR_242190.1 RNA Sequence

    4. XR_927520.1 RNA Sequence

    5. XR_927521.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      140368045..140559148
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)