BLK B lymphoid tyrosine kinase [Homo sapiens] - Gene

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Summary

Official Symbol: BLKprovided by HGNC
Official Full Name: B lymphoid tyrosine kinaseprovided by HGNC
Primary source: 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; MGC10442
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]

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Genomic context

Location :: 8p23-p22

Sequence :: Chromosome: 8; NC_000008.10 (11351521..11422108)

See BLK in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

allelic variation in Blk does not play a major role in determining multifocal motor neuropathy susceptibility.
Title: Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes.
This study shows a genetic interaction between BANK1 and BLK, and demonstrates that these molecules interact physically.
Title: Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK.
Moderate evidence exists for an association between the BLK rs13277113, rs2248932 variants and systemic lupus erythematosus.
Title: Association of BLK (rs13277113, rs2248932) polymorphism with systemic lupus erythematosus: a meta-analysis.
study evaluated SNP rs2248932 from BLK and further defined its role in systemic lupus erythematosus (SLE) risk; its association with SLE was confirmed in Chinese Han population
Title: The association of the BLK gene with SLE was replicated in Chinese Han.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients.
studies found that IRF5, STAT4 and BLK are associated not only with systemic lupus erythematosus, but also rheumatoid arthritis and systemic sclerosis [review]
Title: Association of IRF5, STAT4 and BLK with systemic lupus erythematosus and other rheumatic diseases.
our results do not support a major implication of the C8orf13-BLK gene region in susceptibility to Giant cell arteritis
Title: Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis.
Results indicate the FAM167A-BLK region may be a shared genetic factor for a number of autoimmune diseases in multiple populations, but the genetic contribution may be grater in Asian populations.
Title: Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population.
genetic polymorphism is associated with systemic sclerosis in North-American and European populations
Title: Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations.

Submit: New GeneRIF Correction See all (22)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.

Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.

Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.

Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.

Maturity-onset diabetes of the young, type 11

MIM: 613375

REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

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Products	Interactant	Other Gene	Source	Pubs	Description
P51451	O75934	BCAS2	HPRD	PubMed
P51451	P10415	BCL2	HPRD	PubMed
P51451	P11274	BCR	HPRD	PubMed
P51451	P22681	CBL	HPRD	PubMed
P51451	P11912	CD79A	HPRD	PubMed
P51451	P40259	CD79B	HPRD	PubMed
P51451	Q6PD62	CTR9	HPRD	PubMed
P51451	P12318	FCGR2A	HPRD	PubMed
P51451	P31994	FCGR2B	HPRD	PubMed
P51451	P16885	PLCG2	HPRD	PubMed
P51451	Q05086	UBE3A	HPRD	PubMed
BioGRID:107109	BioGRID:107068	BCL2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107109	BioGRID:107070	BCL2L1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107109	BioGRID:212708	Bcas2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107109	BioGRID:107411	CD79A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107109	BioGRID:107412	CD79B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107109	BioGRID:247522	Nedd4	BioGRID	PubMed	Biochemical Activity
BioGRID:107109	BioGRID:111352	PLCG2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107109	BioGRID:113185	UBE3A	BioGRID	PubMed	Reconstituted Complex

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
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein tyrosine kinase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
B cell receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
intracellular protein kinase cascade	TAS Traceable Author Statement more info	PubMed
positive regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: tyrosine-protein kinase Blk

Names: tyrosine-protein kinase Blk; p55-Blk; b lymphocyte kinase; BLK nonreceptor tyrosine kinase

NP_001706.2

EC 2.7.10.2

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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

NG_023543.1 RefSeqGene

Range

5001..75588

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

BC007371, BC018703, BC032413, BQ057058

Consensus CDS

CCDS5982.1

UniProtKB/Swiss-Prot

P51451

UniProtKB/TrEMBL

Q05D26

UniProtKB/TrEMBL

Q96IN1

Related

ENSP00000259089, OTTHUMP00000115909, ENST00000259089, OTTHUMT00000207460

Conserved Domains (4) summary

cd00174
Location:62 – 115
Blast Score: 149

SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...

cd05067
Location:234 – 493
Blast Score: 1325

PTKc_Lck_Blk; Catalytic domain of the Protein Tyrosine Kinases, Lymphocyte-specific kinase and Blk

cd10371
Location:120 – 219
Blast Score: 539

SH2_Src_Blk; Src homology 2 (SH2) domain found in B lymphoid kinase (Blk)

pfam07714
Location:241 – 490
Blast Score: 1002

Pkinase_Tyr; Protein tyrosine kinase

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

11351521..11422108

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

10282885..10353426

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC022239.16 (64385..98680)	None
genomic	AF131216.2 (284970..285550)	None
genomic	CH471157.1	EAW65617.1
		EAW65618.1
mRNA	AK313751.1	BAG36491.1
mRNA	AL832875.1	None
mRNA	BC004473.2	None
mRNA	BC007371.2	AAH07371.1
mRNA	BC018703.1	AAH18703.1
mRNA	BC032413.1	AAH32413.1
mRNA	BC038555.1	None
mRNA	BQ057058.1	None
mRNA	S76617.1	AAB33265.1
mRNA	Z33998.1	CAA83965.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P51451.3	GenPept	UniProtKB/Swiss-Prot:P51451
Q05D26	GenPept	UniProtKB/TrEMBL:Q05D26
Q96IN1	GenPept	UniProtKB/TrEMBL:Q96IN1