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    BLK BLK proto-oncogene, Src family tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 640, updated on 5-Jul-2015
    Official Symbol
    BLKprovided by HGNC
    Official Full Name
    BLK proto-oncogene, Src family tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:1057
    See related
    Ensembl:ENSG00000136573; HPRD:01866; MIM:191305; Vega:OTTHUMG00000090729
    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
    MODY11
    Summary
    This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
    Orthologs
    Location:
    8p23-p22
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (11493991..11564599)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11351521..11422108)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene FAM167A antisense RNA 1 Neighboring gene L-threonine dehydrogenase (pseudogene) Neighboring gene family with sequence similarity 167, member A Neighboring gene uncharacterized LOC105379241 Neighboring gene long intergenic non-protein coding RNA 208 Neighboring gene uncharacterized LOC105379242

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Maturity-onset diabetes of the young, type 11
    MedGen: C3150618 OMIM: 613375 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies three new risk loci for Kawasaki disease.
    NHGRI GWA Catalog
    A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    NHGRI GWA Catalog
    Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
    NHGRI GWA Catalog
    Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
    NHGRI GWA Catalog
    Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
    NHGRI GWA Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    NHGRI GWA Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog
    Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
    NHGRI GWA Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog
    Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.
    NHGRI GWA Catalog
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    NHGRI GWA Catalog
    REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
    NHGRI GWA Catalog
    Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of B lymphoid tyrosine kinase (BLK) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC10442

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    non-membrane spanning protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    B cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    T cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular response to peptide hormone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    peptidyl-tyrosine autophosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    extrinsic component of cytoplasmic side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    tyrosine-protein kinase Blk
    Names
    B lymphoid tyrosine kinase
    BLK nonreceptor tyrosine kinase
    b lymphocyte kinase
    p55-Blk
    NP_001706.2

    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_023543.1 RefSeqGene

      Range
      5001..75588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001715.2NP_001706.2  tyrosine-protein kinase Blk

      See identical proteins and their annotated locations for NP_001706.2

      Status: REVIEWED

      Source sequence(s)
      BC007371, BC018703, BC032413, BQ057058
      Consensus CDS
      CCDS5982.1
      UniProtKB/Swiss-Prot
      P51451
      UniProtKB/TrEMBL
      Q05D26
      Related
      ENSP00000259089, OTTHUMP00000115909, ENST00000259089, OTTHUMT00000207460
      Conserved Domains (4) summary
      cd10371
      Location:120219
      SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
      cd12009
      Location:62115
      SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
      pfam07714
      Location:241490
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:233496
      PKc_like; Protein Kinases, catalytic domain

    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_000008.11 Reference GRCh38.p2 Primary Assembly

      Range
      11493991..11564599
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543824.1XP_011542126.1  

      See identical proteins and their annotated locations for XP_011542126.1

      Conserved Domains (4) summary
      cd10371
      Location:120219
      SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
      cd12009
      Location:62115
      SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
      pfam07714
      Location:241516
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:233522
      PKc_like; Protein Kinases, catalytic domain
    2. XM_011543827.1XP_011542129.1  

      Conserved Domains (4) summary
      cd10371
      Location:49148
      SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
      pfam07714
      Location:170445
      Pkinase_Tyr; Protein tyrosine kinase
      cl17036
      Location:144
      SH3; Src Homology 3 domain superfamily
      cl21453
      Location:162451
      PKc_like; Protein Kinases, catalytic domain
    3. XM_011543828.1XP_011542130.1  

      Conserved Domains (3) summary
      cd10371
      Location:120219
      SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
      cd12009
      Location:62115
      SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
      cl21453
      Location:232256
      PKc_like; Protein Kinases, catalytic domain
    4. XM_011543829.1XP_011542131.1  

      Conserved Domains (3) summary
      cd10371
      Location:120219
      SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
      cd12009
      Location:62115
      SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
      cl21453
      Location:232256
      PKc_like; Protein Kinases, catalytic domain
    5. XM_011543826.1XP_011542128.1  

      See identical proteins and their annotated locations for XP_011542128.1

      Conserved Domains (4) summary
      cd10371
      Location:120219
      SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
      cd12009
      Location:62115
      SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
      pfam07714
      Location:241516
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:233522
      PKc_like; Protein Kinases, catalytic domain
    6. XM_011543825.1XP_011542127.1  

      See identical proteins and their annotated locations for XP_011542127.1

      Conserved Domains (4) summary
      cd10371
      Location:120219
      SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
      cd12009
      Location:62115
      SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
      pfam07714
      Location:241516
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:233522
      PKc_like; Protein Kinases, catalytic domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      11416813..11487683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)