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

Gene ID: 640, updated on 14-Nov-2024

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; AllianceGenome:HGNC:1057
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
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Genomic context

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See BLK in Genome Data Viewer
Location:
8p23.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11494387..11564599)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (8175675..8245838, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11351896..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 H3K4me1 hESC enhancer GRCh37_chr8:11265249-11265768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11264728-11265248 Neighboring gene Sharpr-MPRA regulatory region 7548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11273999-11274500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11274501-11275000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11282034-11282577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11282578-11283120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11293411-11293930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11293931-11294450 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:11295726-11295929 Neighboring gene family with sequence similarity 167 member A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11300354-11300945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11309217-11309792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11309793-11310368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11310369-11310944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11325425-11326194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27015 Neighboring gene CRISPRi-FlowFISH-validated BLK regulatory element GRCh37_chr8:11349255-11350515 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11351829-11353028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27025 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:11395673-11395837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27028 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11407118-11408317 Neighboring gene uncharacterized LOC105379241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18935 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:11424419-11425618 Neighboring gene long intergenic non-protein coding RNA 208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11456947-11457783 Neighboring gene MPRA-validated peak6905 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11478375-11478875 Neighboring gene Sharpr-MPRA regulatory region 10445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11487938-11488828 Neighboring gene uncharacterized LOC105379242

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 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates pancreatic tumorigenesis through interacting with beta-catenin.
    Title: B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates pancreatic tumorigenesis through interacting with β-catenin.
  2. Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
    Title: Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
  3. BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder.
    Title: BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder.
  4. BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjogren's syndrome and with some clinical features.
    Title: BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjögren's syndrome and with some clinical features.
  5. Polymorphisms of BLK are associated with renal disorder in patients with systemic lupus erythematosus.
    Title: Polymorphisms of BLK are associated with renal disorder in patients with systemic lupus erythematosus.
  6. This is the first study showing an association of BLK rs2736340T/C and rs13277113A/G and BANK1 R61H with susceptibility to SLE in a Latin-American population. In addition, some BLK and BANK1 interactions were associated with susceptibility to SLE.
    Title: BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.
  7. The results suggest that this is the first study to disclose a possible association of genetic variants of BLK with susceptibility to GD, HT and AITD, and the diversity of AmiA levels.
    Title: Associations of secreted phosphoprotein 1 and B lymphocyte kinase gene polymorphisms with autoimmune thyroid disease.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (61)

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

EBI GWAS Catalog

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

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 PubChem

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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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables histone H2AXY142 kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3Y41 kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables non-membrane spanning protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables non-membrane spanning protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables non-membrane spanning protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in B cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in B cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

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
XP_047278037.1
XP_047278038.1
XP_047278039.1
XP_047278040.1
XP_054188227.1
XP_054188228.1
XP_054188229.1
XP_054188230.1
XP_054188231.1
XP_054188232.1
XP_054216942.1
XP_054216943.1
XP_054216944.1
XP_054216945.1
XP_054216946.1
XP_054216947.1
XP_054216948.1
XP_054216949.1
XP_054216950.1

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
    5376..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

  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, Q16291, Q96IN1
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    11494387..11564599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543824.2 → XP_011542126.1  tyrosine-protein kinase Blk isoform X1

    See identical proteins and their annotated locations for XP_011542126.1

    UniProtKB/TrEMBL
    Q05D26
    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_011543827.2 → XP_011542129.1  tyrosine-protein kinase Blk isoform X3

    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_011543828.4 → XP_011542130.1  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

  4. XM_011543829.4 → XP_011542131.1  tyrosine-protein kinase Blk isoform X5

    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_047422081.1 → XP_047278037.1  tyrosine-protein kinase Blk isoform X1

  6. XM_047422082.1 → XP_047278038.1  tyrosine-protein kinase Blk isoform X2

    UniProtKB/Swiss-Prot
    P51451, Q16291, Q96IN1

  7. XM_047422084.1 → XP_047278040.1  tyrosine-protein kinase Blk isoform X5

  8. XM_011543825.4 → XP_011542127.1  tyrosine-protein kinase Blk isoform X1

    See identical proteins and their annotated locations for XP_011542127.1

    UniProtKB/TrEMBL
    Q05D26
    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

  9. XM_047422083.1 → XP_047278039.1  tyrosine-protein kinase Blk isoform X2

    UniProtKB/Swiss-Prot
    P51451, Q16291, Q96IN1

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    1783517..1853694 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332255.1 → XP_054188230.1  tyrosine-protein kinase Blk isoform X3

  2. XM_054332252.1 → XP_054188227.1  tyrosine-protein kinase Blk isoform X1

  3. XM_054332254.1 → XP_054188229.1  tyrosine-protein kinase Blk isoform X2

    UniProtKB/Swiss-Prot
    P51451, Q16291, Q96IN1

  4. XM_054332253.1 → XP_054188228.1  tyrosine-protein kinase Blk isoform X2

    UniProtKB/Swiss-Prot
    P51451, Q16291, Q96IN1

  5. XM_054332257.1 → XP_054188232.1  tyrosine-protein kinase Blk isoform X5

  6. XM_054332256.1 → XP_054188231.1  tyrosine-protein kinase Blk isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    8175675..8245838 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360972.1 → XP_054216947.1  tyrosine-protein kinase Blk isoform X3

  2. XM_054360967.1 → XP_054216942.1  tyrosine-protein kinase Blk isoform X1

  3. XM_054360971.1 → XP_054216946.1  tyrosine-protein kinase Blk isoform X2

    UniProtKB/Swiss-Prot
    P51451, Q16291, Q96IN1

  4. XM_054360969.1 → XP_054216944.1  tyrosine-protein kinase Blk isoform X2

    UniProtKB/Swiss-Prot
    P51451, Q16291, Q96IN1

  5. XM_054360968.1 → XP_054216943.1  tyrosine-protein kinase Blk isoform X1

  6. XM_054360970.1 → XP_054216945.1  tyrosine-protein kinase Blk isoform X2

    UniProtKB/Swiss-Prot
    P51451, Q16291, Q96IN1

  7. XM_054360974.1 → XP_054216949.1  tyrosine-protein kinase Blk isoform X5

  8. XM_054360973.1 → XP_054216948.1  tyrosine-protein kinase Blk isoform X4

  9. XM_054360975.1 → XP_054216950.1  tyrosine-protein kinase Blk isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51451.3 GenPept UniProtKB/Swiss-Prot:P51451

Gene LinkOut

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