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

Gene ID: 640, updated on 17-Jun-2019

Summary

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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 MIM:191305
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]
Expression
Biased expression in lymph node (RPKM 18.9), spleen (RPKM 13.7) and 4 other tissues See more
Orthologs
mouse all

Genomic context

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See BLK in Genome Data Viewer
Location:
8p23.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 RNA, U6 small nuclear 1084, 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 Sharpr-MPRA regulatory region 10445

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A novel BLK-induced tumor model. Petersen DL, et al. Tumour Biol, 2017 Jul. PMID 28670978
  2. BLK pathway-associated rs13277113 GA genotype is more frequent in SLE patients and associated with low gene expression and increased flares. Pamuk ON, et al. Clin Rheumatol, 2017 Jan. PMID 27864698
  3. Association between BLK polymorphisms and susceptibility to SLE : A meta-analysis. Song GG, et al. Z Rheumatol, 2017 Mar. PMID 27067206
  4. Autoimmune disease-associated haplotypes of BLK exhibit lowered thresholds for B cell activation and expansion of Ig class-switched B cells. Simpfendorfer KR, et al. Arthritis Rheumatol, 2015 Nov. PMID 26246128
  5. Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help. Compeer EB, et al. Oncotarget, 2015 May 10. PMID 25926555, Free PMC Article

See all (98) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. Study demonstrates the functional consequences of rare and low frequency missense variants in the interacting proteins BLK and BANK1, which are present alone, or in combination, in a substantial proportion of lupus patients. The rare variants found in patients, but not those found exclusively in controls, impair suppression of IRF5 and type-I IFN in human B cell lines.
    Title: Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
  2. our results indicated that the BLK rs13277113 polymorphism was involved in the genetic background of RA in Chinese population and the association of BANK1 rs3733197 polymorphism with RA was dependent on the genotype of BLK rs13277113 polymorphism, highlighting B-cell response implicated in the pathogenesis of RA.
    Title: Interaction analysis between BLK rs13277113 polymorphism and BANK1 rs3733197 polymorphism, MMEL1/TNFRSF14 rs3890745 polymorphism in determining susceptibility to rheumatoid arthritis.
  3. present study suggests a novel association between specific TNFSF4 and BLK gene polymorphisms and allergic rhinitis risk.
    Title: Association between TNFSF4 and BLK gene polymorphisms and susceptibility to allergic rhinitis.
  4. This meta-analysis confirms that polymorphisms in the BLK alleles rs13277113 A/G, rs2736340 T/C, and rs2248932 T/C are associated with susceptibility to SLE in Caucasian and Asian populations.
    Title: Association between BLK polymorphisms and susceptibility to SLE : A meta-analysis.
  5. Confirm the association of rs548234/ATG5, rs2736340/BLK and rs10516487/BANK1 with systemic lupus erythematosus in Chinese Han and reinforced our hypothesis of their epistasis effect in regulating B-cell signaling in SLE.
    Title: Gene-gene interaction of ATG5, ATG7, BLK and BANK1 in systemic lupus erythematosus.
  6. ur study provides evidence that human BLK is a true proto-oncogene capable of inducing tumors, and we demonstrate a novel BLK activity-dependent tumor model suitable for studies of BLK-driven lymphomagenesis and screening of novel BLK inhibitors in vivo.
    Title: A novel BLK-induced tumor model.
  7. rs13277113 GA genotype of BLK is more frequent in Systemic Lupus Erythematosus patients and may have a role in low gene expression and increased flares
    Title: BLK pathway-associated rs13277113 GA genotype is more frequent in SLE patients and associated with low gene expression and increased flares.
  8. current meta-analysis suggested that FAM167A-BLK rs2736340 polymorphism is associated with several autoimmune diseases
    Title: Association of FAM167A-BLK rs2736340 Polymorphism with Susceptibility to Autoimmune Diseases: A Meta-Analysis.
  9. the SNPs in TNFSF4 and FAM167A-BLK may be involved in asthma and allergic rhinitis gene risk in the Han Chinese cohort.
    Title: Genetic risk of TNFSF4 and FAM167A-BLK polymorphisms in children with asthma and allergic rhinitis in a Han Chinese population.
  10. The systemic lupus erythematosus variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.
    Title: The SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.
Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

Pathways from BioSystems

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
B cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
intracellular signal transduction TAS
Traceable Author Statement
more info
 PubMed 
peptidyl-tyrosine autophosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of B cell receptor signaling pathway TAS
Traceable Author Statement
more info
  
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
  
extrinsic component of cytoplasmic side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
tyrosine-protein kinase Blk
Names
B lymphoid tyrosine kinase
BLK nonreceptor tyrosine kinase
b lymphocyte kinase
p55-Blk
NP_001317394.1
NP_001706.2
XP_011542126.1
XP_011542127.1
XP_011542129.1
XP_011542130.1
XP_011542131.1

NCBI Reference Sequences (RefSeq)

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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_023543.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001330465.2 → NP_001317394.1  tyrosine-protein kinase Blk isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC022239, AF131216
    Consensus CDS
    CCDS83251.1
    UniProtKB/TrEMBL
    E9PJX5
    Related
    ENSP00000433663.1, ENST00000529894.1

  2. NM_001715.3 → NP_001706.2  tyrosine-protein kinase Blk isoform 1

    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
    ENSP00000259089.4, ENST00000259089.9
    Conserved Domains (3) summary
    cd10371
    Location:120 → 219
    SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
    cd12009
    Location:62 → 115
    SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
    cl21453
    Location:233 → 496
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens 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_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011543824.1 → XP_011542126.1  tyrosine-protein kinase Blk isoform X1

    See identical proteins and their annotated locations for XP_011542126.1

    Conserved Domains (4) summary
    cd10371
    Location:120 → 219
    SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
    cd12009
    Location:62 → 115
    SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
    pfam07714
    Location:241 → 516
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:233 → 522
    PKc_like; Protein Kinases, catalytic domain

  2. XM_011543827.1 → XP_011542129.1  tyrosine-protein kinase Blk isoform X2

    Conserved Domains (4) summary
    cd10371
    Location:49 → 148
    SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
    pfam07714
    Location:170 → 445
    Pkinase_Tyr; Protein tyrosine kinase
    cl17036
    Location:1 → 44
    SH3; Src Homology 3 domain superfamily
    cl21453
    Location:162 → 451
    PKc_like; Protein Kinases, catalytic domain

  3. XM_011543828.3 → XP_011542130.1  tyrosine-protein kinase Blk isoform X3

    Conserved Domains (3) summary
    cd10371
    Location:120 → 219
    SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
    cd12009
    Location:62 → 115
    SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
    cl21453
    Location:232 → 256
    PKc_like; Protein Kinases, catalytic domain

  4. XM_011543829.3 → XP_011542131.1  tyrosine-protein kinase Blk isoform X4

    Conserved Domains (3) summary
    cd10371
    Location:120 → 219
    SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
    cd12009
    Location:62 → 115
    SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
    cl21453
    Location:232 → 256
    PKc_like; Protein Kinases, catalytic domain

  5. XM_011543825.3 → XP_011542127.1  tyrosine-protein kinase Blk isoform X1

    See identical proteins and their annotated locations for XP_011542127.1

    Conserved Domains (4) summary
    cd10371
    Location:120 → 219
    SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)
    cd12009
    Location:62 → 115
    SH3_Blk; Src homology 3 domain of Blk Protein Tyrosine Kinase
    pfam07714
    Location:241 → 516
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:233 → 522
    PKc_like; Protein Kinases, catalytic domain

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

    Range
    1783517..1853694 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51451.3 GenPept UniProtKB/Swiss-Prot:P51451

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