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

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; 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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder.
Title: BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder.
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.
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.
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.
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.
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.
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.
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

Associated conditions

Description	Tests
Maturity-onset diabetes of the young type 11 MedGen: C3150618 OMIM: 613375 GeneReviews: Maturity-Onset Diabetes of the Young Overview	Compare labs

EBI GWAS Catalog

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:462442 (e-PCR)
- UniSTS:157494

G60355 (e-PCR)
- UniSTS:137611

D8S1695 (e-PCR), detects polymorphism
- UniSTS:2975

SHGC-82225 (e-PCR)
- UniSTS:103120

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	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 innate immune response	IBA Inferred from Biological aspect of Ancestor 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

EC 2.7.10.2

NP_001706.2

EC 2.7.10.2

XP_011542126.1

EC 2.7.10.2

XP_011542127.1

EC 2.7.10.2

XP_011542129.1

EC 2.7.10.2

XP_011542130.1

EC 2.7.10.2

XP_011542131.1

EC 2.7.10.2

XP_047278037.1

EC 2.7.10.2

XP_047278038.1

EC 2.7.10.2

XP_047278039.1

EC 2.7.10.2

XP_047278040.1

EC 2.7.10.2

XP_054188227.1

EC 2.7.10.2

XP_054188228.1

EC 2.7.10.2

XP_054188229.1

EC 2.7.10.2

XP_054188230.1

EC 2.7.10.2

XP_054188231.1

EC 2.7.10.2

XP_054188232.1

EC 2.7.10.2

XP_054216942.1

EC 2.7.10.2

XP_054216943.1

EC 2.7.10.2

XP_054216944.1

EC 2.7.10.2

XP_054216945.1

EC 2.7.10.2

XP_054216946.1

EC 2.7.10.2

XP_054216947.1

EC 2.7.10.2

XP_054216948.1

EC 2.7.10.2

XP_054216949.1

EC 2.7.10.2

XP_054216950.1

EC 2.7.10.2

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

NG_023543.2 RefSeqGene

Range

5376..75588

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC022239, AF131216

Consensus CDS

CCDS83251.1
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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

11494387..11564599

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
XM_047422081.1 → XP_047278037.1 tyrosine-protein kinase Blk isoform X1
XM_047422082.1 → XP_047278038.1 tyrosine-protein kinase Blk isoform X2

UniProtKB/Swiss-Prot

P51451, Q16291, Q96IN1
XM_047422084.1 → XP_047278040.1 tyrosine-protein kinase Blk isoform X5
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
XM_047422083.1 → XP_047278039.1 tyrosine-protein kinase Blk isoform X2

UniProtKB/Swiss-Prot

P51451, Q16291, Q96IN1

Reference GRCh38.p14 PATCHES

Genomic

NW_018654717.1 Reference GRCh38.p14 PATCHES

Range

1783517..1853694 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332255.1 → XP_054188230.1 tyrosine-protein kinase Blk isoform X3
XM_054332252.1 → XP_054188227.1 tyrosine-protein kinase Blk isoform X1
XM_054332254.1 → XP_054188229.1 tyrosine-protein kinase Blk isoform X2

UniProtKB/Swiss-Prot

P51451, Q16291, Q96IN1
XM_054332253.1 → XP_054188228.1 tyrosine-protein kinase Blk isoform X2

UniProtKB/Swiss-Prot

P51451, Q16291, Q96IN1
XM_054332257.1 → XP_054188232.1 tyrosine-protein kinase Blk isoform X5
XM_054332256.1 → XP_054188231.1 tyrosine-protein kinase Blk isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

8175675..8245838 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054360972.1 → XP_054216947.1 tyrosine-protein kinase Blk isoform X3
XM_054360967.1 → XP_054216942.1 tyrosine-protein kinase Blk isoform X1
XM_054360971.1 → XP_054216946.1 tyrosine-protein kinase Blk isoform X2

UniProtKB/Swiss-Prot

P51451, Q16291, Q96IN1
XM_054360969.1 → XP_054216944.1 tyrosine-protein kinase Blk isoform X2

UniProtKB/Swiss-Prot

P51451, Q16291, Q96IN1
XM_054360968.1 → XP_054216943.1 tyrosine-protein kinase Blk isoform X1
XM_054360970.1 → XP_054216945.1 tyrosine-protein kinase Blk isoform X2

UniProtKB/Swiss-Prot

P51451, Q16291, Q96IN1
XM_054360974.1 → XP_054216949.1 tyrosine-protein kinase Blk isoform X5
XM_054360973.1 → XP_054216948.1 tyrosine-protein kinase Blk isoform X4
XM_054360975.1 → XP_054216950.1 tyrosine-protein kinase Blk isoform X5