BLKGene Detail-Gene Database-Genelibs

BLK (BLK proto-oncogene, Src family tyrosine kinase)

symbol:: BLK
locus group:: protein-coding gene
location:: 8p23.1
gene_family:: SH2 domain containing
alias symbol:: MGC10442
alias name:: None
entrez id:: 640
ensembl gene id:: ENSG00000136573
ucsc gene id:: uc003wty.4
refseq accession:: NM_001330465
hgnc_id:: HGNC:1057
approved reserved:: 1995-05-17

8p23.1

ChineseEnglish

BLK（B淋巴细胞激酶，B lymphoid kinase）属于SRC家族酪氨酸激酶基因家族（SRC family of tyrosine kinases），该家族成员在细胞信号传导中起关键作用，通常参与调控细胞增殖、分化、存活和免疫反应。BLK主要在B淋巴细胞中表达，其编码的蛋白质是一种非受体型酪氨酸激酶，通过磷酸化下游信号分子（如SYK、BTK）激活B细胞受体（BCR）信号通路，从而影响B细胞的发育、活化和抗体产生。BLK的功能特点包括其特异性表达于B细胞谱系，且通过与其他适配蛋白（如CD79A/CD79B）相互作用传递抗原识别信号。若BLK发生功能丧失性突变（如错义突变或截短突变），可能导致B细胞信号传导异常，与免疫缺陷或自身免疫疾病（如系统性红斑狼疮、类风湿关节炎）相关。全基因组关联研究（GWAS）发现BLK基因的某些单核苷酸多态性（SNPs）与自身免疫疾病风险显著相关，例如其启动子区域的变异可能通过降低BLK表达促进自身抗体产生。BLK过表达可能增强B细胞活化和增殖，增加自身免疫风险；而表达降低则可能削弱B细胞功能，导致免疫应答不足或免疫耐受异常。在SRC家族中，BLK与其他成员（如LYN、FYN）共享保守的激酶结构域，但各成员具有组织表达特异性和底物偏好性。该家族共性包括通过SH2/SH3结构域介导蛋白质相互作用，并受C端酪氨酸磷酸化调控其激酶活性。目前针对BLK的干预策略（如小分子抑制剂）正在研究中，可能为自身免疫疾病提供治疗方向。

这个基因编码的原癌基因的src家族通常涉及细胞增殖和分化的非受体酪氨酸激酶。该蛋白质具有在B细胞受体信号传导和B-细胞发展中的作用。该蛋白质也刺激胰岛素合成和分泌响应于葡萄糖和增强的几个胰腺β-细胞的转录因子的表达。 [由RefSeq的，2010年8月提供]

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]

OMIM entry for BLK Wikipedia entry for BLK

Nucleotide sequence of BLK:[NCBI]

Loading Gene Browser...

Protein Sequence

1MGLVSSKKPD KEKPIKEKDK GQWSPLKVSA QDKDAPPLPP
41LVVFNHLTPP PPDEHLDEDK HFVVALYDYT AMNDRDLQML
81
KGEKLQVLK GTGDWWLARS LVTGREGYVP SNFVARVESL
121EMERWFFRSQ GRKEAERQLL APINKAGSFL IRESETNKGA
161F
SLSVKDVT TQGELIKHYK IRCLDEGGYY ISPRITFPSL
201QALVQHYSKK GDGLCQRLTL PCVRPAPQNP WAQDEWEIPR
241QS
LRLVRKL GSGQFGEVWM GYYKNNMKVA IKTLKEGTMS
281PEAFLGEANV MKALQHERLV RLYAVVTKEP IYIVTEYMAR
321GCL
LDFLKT DEGSRLSLPR LIDMSAQIAE GMAYIERMNS
361IHRDLRAANI LVSEALCCKI ADFGLARIID SEYTAQEGAK
401FPIK
WTAPE AIHFGVFTIK ADVWSFGVLL MEVVTYGRVP
441YPGMSNPEVI RNLERGYRMP RPDTCPPELY RGVIAECWRS
481RPEER
PTFE FLQSVLEDFY TATERQYELQ P

Structure predicted by AlphaFold DB(UniProt: P51451). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

SNP variants of BLK: Showing partial SNPs

rs14053 rs899369 rs922483 rs922484 rs922485 rs931083 rs931084 rs931085 rs931086 rs936550 rs998682 rs998683 rs1042687 rs1042689 rs1042695 rs1042701 rs1060701

Tissue expression of BLK: [UniProt]

Forward Primer

Forward Tm

Reverse Primer

Reverse Tm

Score

GATTTCCTGAAGACAGATGAAGG

59

CATCCCTTCAGCAATCTGC

59

TGAATACACGGCCCAAGAG

60

CTGCTTTGATGGTGAAGACC

59

TGAAACCAACAAAGGTGCC

59

CGGATCTTATAGTGCTTGATCAG

59

CAAAGAGAAGGACAAGGGC

59

GTGGTTGAAGACAACCAGG

59

CAGGTCCTGAAGGGAACTG

60

CCACAAAGTTACTGGGCAC

59

GCATTGCCAAGGTTACACC

60

GGATGGTAAAGTCCCTGGG

60

TGAAACCAACAAAGGTGCC

59

CGGATCTTATAGTGCTTGATCAG

59

CATTGCCAAGGTTACACCG

60

TGGATGGTAAAGTCCCTGG

59

CAGGTCCTGAAGGGAACTG

60

CAAAGTTACTGGGCACATAGC

60

AGTGAAACCAACAAAGGTGC

60

GATCTTATAGTGCTTGATCAGCTC

59

Transcription Factors

Target Gene

Interaction Type

PubMed References

PAX5

BLK

Repression

18697940

Subcellular localization of BLK (and its protein):

[UniProt] [GenomeNet]

plasma membrane
cytoplasm
extracellular
golgi
vesicle
cytoskeleton
endoplasmic reticulum
nucleus
endosome
lysosome
mitochondrion

Gene Ontology (GO) terms for BLK:

GO ID

Protein

Source DB

GO:0004715

E9PJX5 (UniProtKB)

IEA

GO:0005524

E9PJX5 (UniProtKB)

IEA

GO:0018108

E9PJX5 (UniProtKB)

IEA

GO:0018108

E9PJX5 (UniProtKB)

IEA

GO:0004713

P51451 (UniProtKB)

TAS

GO:0004715

P51451 (UniProtKB)

IDA

GO:0005102

P51451 (UniProtKB)

IBA

GO:0005515

P51451 (UniProtKB)

IPI

GO:0005515

P51451 (UniProtKB)

IPI

GO:0005515

P51451 (UniProtKB)

IPI

GO:0005515

P51451 (UniProtKB)

IPI

GO:0005515

P51451 (UniProtKB)

IPI

GO:0005515

P51451 (UniProtKB)

IPI

GO:0005524

P51451 (UniProtKB)

IEA

GO:0007010

P51451 (UniProtKB)

IBA

GO:0007169

P51451 (UniProtKB)

IBA

GO:0030154

P51451 (UniProtKB)

IBA

GO:0031234

P51451 (UniProtKB)

IBA

GO:0032024

P51451 (UniProtKB)

IMP

GO:0035556

P51451 (UniProtKB)

TAS

GO:0038083

P51451 (UniProtKB)

IBA

GO:0042127

P51451 (UniProtKB)

IBA

GO:0043066

P51451 (UniProtKB)

IBA

GO:0045087

P51451 (UniProtKB)

IBA

GO:0050764

P51451 (UniProtKB)

IBA

GO:0050853

P51451 (UniProtKB)

IDA

GO:0071801

P51451 (UniProtKB)

IBA

microRNAs potentially regulating BLK:

String

BioGrid

IntAct

mentha

MINT

Reactome

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Interacting Gene	Interaction	Source/Score

Reactomepathway

Name
Adaptive Immune System
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Immune System
Signaling by the B Cell Receptor (BCR)

Disease

Score

NofPmids

NofSnps

Source

Disease	Score	NofPmids	NofSnps	Source
Lupus Erythematosus, Systemic	0.272823399	30	4	BeFree_CTD_human_GAD_GWASCAT
Maturity-onset diabetes of the young, type 11	0.24	0	1	CLINVAR_CTD_human
Rheumatoid Arthritis	0.128458305	10	10	BeFree_CTD_human_GAD
Mucocutaneous Lymph Node Syndrome	0.121085767	4	0	BeFree_CTD_human
Myocardial Reperfusion Injury	0.08	1	0	RGD
Antiphospholipid Syndrome	0.004734064	2	0	GAD
Systemic Scleroderma	0.003995683	6	0	BeFree_GAD
Giant Cell Arteritis	0.002638474	1	0	BeFree_GAD
Temporal Arteritis	0.002367032	1	0	GAD
Autoimmune Diseases	0.001900093	7	0	BeFree

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