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

Gene ID: 640, updated on 12-Oct-2019

Summary

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

Genomic context

See BLK in Genome Data Viewer
Location:
8p23.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190905 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

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

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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)

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_001330465.2NP_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_001715.3NP_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: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:233496
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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_011543824.1XP_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: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  tyrosine-protein kinase Blk isoform X2

    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_011543828.3XP_011542130.1  tyrosine-protein kinase Blk isoform X3

    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_011543829.3XP_011542131.1  tyrosine-protein kinase Blk isoform X4

    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_011543825.3XP_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: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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

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