• Gene id: 640

Gene Summary

• Gene Symbol: BLK   Gene   UCSC   Ensembl
• Aliases: MODY11
• Gene name: BLK proto-oncogene, Src family tyrosine kinase
• Alternate names: tyrosine-protein kinase Blk, B lymphoid tyrosine kinase, BLK nonreceptor tyrosine kinase, b lymphocyte kinase, p55-Blk,
• Gene location: 8p23.1 (11493990: 11564598)     Exons: 15     NC_000008.11
• Gene summary(Entrez): 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 stimul
• OMIM: 601146

SNPs

rs121912556

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.17816945C>T
NC_000019.9   g.17927754C>T
NG_012092.1   g.9567G>A
NM_005543.4   c.305G>A
NM_005543.3   c.305G>A
NM_001265587.2   c.400G>A
NM_001265587.1   c.400G>A
NP_005534.2   p.Arg102His
NP_001252516.1   p.Ala134Thr|SEQ=[C/T]|GENE=INSL3

rs10421916

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.17818178A>G
NC_000019.10   g.17818178A>T
NC_000019.9   g.17928987A>G
NC_000019.9   g.17928987A>T
NG_012092.1   g.8334T>C
NG_012092.1   g.8334T>A|SEQ=[A/G/T]|GENE=INSL3

Protein Summary

• Protein general information: P51451  
  • Name: Tyrosine protein kinase Blk (EC 2.7.10.2) (B lymphocyte kinase) (p55 Blk)
  • Length: 505  
  • Mass: 57706
  • Tissue specificity: Expressed in lymphatic organs, pancreatic islets, Leydig cells, striate ducts of salivary glands and hair follicles. {ECO
• Sequence:

  MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDR
  DLQMLKGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLI
  RESETNKGAFSLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAP
  QNPWAQDEWEIPRQSLRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLY
  AVVTKEPIYIVTEYMARGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCCK
  IADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLER
  GYRMPRPDTCPPELYRGVIAECWRSRPEERPTFEFLQSVLEDFYTATERQYELQP

• Structural information:
  • Protein Domains: (58..11-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (124..22-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (241..49-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR035853  IPR011009  IPR000719  IPR017441  IPR001245   IPR000980  IPR036860  IPR036028  IPR001452  IPR020635  
  • Prosite: PS00107 PS50011 PS50001 PS50002
  • CDD: cd10371
  • STRING: ENSP00000259089
• Other Databases: GeneCards:  BLK  Malacards:  BLK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042127	regulation of cell population proliferation	IBA	biological process
GO:0038083	peptidyl-tyrosine autophosphorylation	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IBA	molecular function
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IBA	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0050853	B cell receptor signaling pathway	IDA	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IDA	molecular function
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0032024	positive regulation of insulin secretion	IMP	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0035556	intracellular signal transduction	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0050855	regulation of B cell receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Maturity onset diabetes of the young	KEGG:H00410
Maturity onset diabetes of the young	KEGG:H00410
Systemic lupus erythematosus	PMID:19180478
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray