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Aliases for BLK Gene

Aliases for BLK Gene

  • BLK Proto-Oncogene, Src Family Tyrosine Kinase 2 3
  • B Lymphoid Tyrosine Kinase 2 3
  • B Lymphocyte Kinase 3 4
  • EC 2.7.10.2 4 63
  • P55-Blk 3 4
  • MODY11 3 6
  • BLK Nonreceptor Tyrosine Kinase 3
  • Tyrosine-Protein Kinase Blk 3

External Ids for BLK Gene

Summaries for BLK Gene

Entrez Gene Summary for BLK Gene

  • 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]

GeneCards Summary for BLK Gene

BLK (BLK Proto-Oncogene, Src Family Tyrosine Kinase) is a Protein Coding gene. Diseases associated with BLK include maturity-onset diabetes of the young, type 11 and maturity-onset diabetes of the young type11. Among its related pathways are Downstream Signaling Events Of B Cell Receptor (BCR) and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include protein tyrosine kinase activity and non-membrane spanning protein tyrosine kinase activity. An important paralog of this gene is ABL2.

UniProtKB/Swiss-Prot for BLK Gene

  • Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling. B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor. Specifically binds and phosphorylates CD79A at Tyr-188and Tyr-199, as well as CD79B at Tyr-196 and Tyr-207. Phosphorylates also the immunoglobulin G receptors FCGR2A, FCGR2B and FCGR2C. With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation. Contributes also to BTK activation by indirectly stimulating BTK intramolecular autophosphorylation. In pancreatic islets, acts as a modulator of beta-cells function through the up-regulation of PDX1 and NKX6-1 and consequent stimulation of insulin secretion in response to glucose.

Gene Wiki entry for BLK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLK Gene

Genomics for BLK Gene

Genomic Location for BLK Gene

Start:
11,494,001 bp from pter
End:
11,564,604 bp from pter
Size:
70,604 bases
Orientation:
Plus strand

Genomic View for BLK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BLK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLK Gene

Regulatory Elements for BLK Gene

Transcription factor binding sites by QIAGEN in the BLK gene promoter:

Proteins for BLK Gene

  • Protein details for BLK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51451-BLK_HUMAN
    Recommended name:
    Tyrosine-protein kinase Blk
    Protein Accession:
    P51451
    Secondary Accessions:
    • Q16291
    • Q96IN1

    Protein attributes for BLK Gene

    Size:
    505 amino acids
    Molecular mass:
    57706 Da
    Quaternary structure:
    • Interacts with CBL (via SH2 domain). Interacts with CD79A and CD79B (via SH2 domain) (By similarity).

neXtProt entry for BLK Gene

Proteomics data for BLK Gene at MOPED

Post-translational modifications for BLK Gene

  • Phosphorylated on tyrosine residues after antibody-mediated surface engagement of the B-cell antigen receptor (BCR).
  • Ubiquitination of activated BLK by the UBE3A ubiquitin protein ligase leads to its degradation by the ubiquitin-proteasome pathway.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLK Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for BLK Gene

Gene Families for BLK Gene

HGNC:
  • SH2D :SH2 domain containing
IUPHAR :

Suggested Antigen Peptide Sequences for BLK Gene

Graphical View of Domain Structure for InterPro Entry

P51451

UniProtKB/Swiss-Prot:

BLK_HUMAN
Domain:
  • Contains 1 protein kinase domain.:
    • P51451
  • Contains 1 SH2 domain.:
    • P51451
  • Contains 1 SH3 domain.:
    • P51451
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily.:
    • P51451
genes like me logo Genes that share domains with BLK: view

Function for BLK Gene

Molecular function for BLK Gene

GENATLAS Biochemistry: lymphoid non receptor tyrosine kinase (58kDa),homologous to mouse Blk,SRC family
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
UniProtKB/Swiss-Prot EnzymeRegulation: Antibody-mediated surface engagement of the B-cell antigen receptor (BCR) which results in the phosphorylation of BLK on tyrosine residues, stimulates the enzymatic activity.
UniProtKB/Swiss-Prot Function: Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling. B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor. Specifically binds and phosphorylates CD79A at Tyr-188and Tyr-199, as well as CD79B at Tyr-196 and Tyr-207. Phosphorylates also the immunoglobulin G receptors FCGR2A, FCGR2B and FCGR2C. With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation. Contributes also to BTK activation by indirectly stimulating BTK intramolecular autophosphorylation. In pancreatic islets, acts as a modulator of beta-cells function through the up-regulation of PDX1 and NKX6-1 and consequent stimulation of insulin secretion in response to glucose.
UniProtKB/Swiss-Prot Induction: Expression is under the control of NF-kappa-B as well as the B-cell specific transcription factors PAX5 and EBF1.

Enzyme Numbers (IUBMB) for BLK Gene

Gene Ontology (GO) - Molecular Function for BLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity TAS 7845672
GO:0004715 non-membrane spanning protein tyrosine kinase activity IDA 876631
GO:0005102 receptor binding IBA --
GO:0005515 protein binding IPI 16273093
genes like me logo Genes that share ontologies with BLK: view
genes like me logo Genes that share phenotypes with BLK: view

Animal Models for BLK Gene

MGI Knock Outs for BLK:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for BLK Gene

Localization for BLK Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLK Gene

Cell membrane; Lipid-anchor. Note=Present and active in lipid rafts. Membrane location is required for the phosphorylation of CD79A and CD79B (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BLK Gene COMPARTMENTS Subcellular localization image for BLK gene
Compartment Confidence
plasma membrane 5
cytosol 3
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for BLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA --
genes like me logo Genes that share ontologies with BLK: view

Pathways for BLK Gene

genes like me logo Genes that share pathways with BLK: view

Gene Ontology (GO) - Biological Process for BLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA --
GO:0018108 peptidyl-tyrosine phosphorylation --
GO:0030217 T cell differentiation IBA --
GO:0032024 positive regulation of insulin secretion IMP 19667185
genes like me logo Genes that share ontologies with BLK: view

Compounds for BLK Gene

(2) HMDB Compounds for BLK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(6) Novoseek inferred chemical compound relationships for BLK Gene

Compound -log(P) Hits PubMed IDs
tyrosine 70 37
phosphotyrosine 56.3 1
digitonin 49 1
imatinib 25.8 1
phosphatidylinositol 22.5 1
genes like me logo Genes that share compounds with BLK: view

Transcripts for BLK Gene

Unigene Clusters for BLK Gene

B lymphoid tyrosine kinase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BLK Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14
SP1: - - - -
SP2: - - - -
SP3:
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for BLK Gene

GeneLoc Exon Structure for
BLK
ECgene alternative splicing isoforms for
BLK

Expression for BLK Gene

mRNA expression in normal human tissues for BLK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BLK Gene

This gene is overexpressed in Spleen (13.9), Small Intestine - Terminal Ileum (11.1), and Whole Blood (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BLK Gene

SOURCE GeneReport for Unigene cluster for BLK Gene Hs.146591

mRNA Expression by UniProt/SwissProt for BLK Gene

P51451-BLK_HUMAN
Tissue specificity: Expressed in lymphatic organs, pancreatic islets, Leydig cells, striate ducts of salivary glands and hair follicles.
genes like me logo Genes that share expressions with BLK: view

Orthologs for BLK Gene

This gene was present in the common ancestor of animals.

Orthologs for BLK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BLK 35
  • 98.68 (n)
  • 98.61 (a)
BLK 36
  • 82 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BLK 35
  • 86.6 (n)
  • 87.8 (a)
BLK 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BLK 35
  • 87.47 (n)
  • 88.8 (a)
BLK 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Blk 35
  • 84.97 (n)
  • 87.17 (a)
Blk 16
Blk 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BLK 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLK 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Blk 35
  • 85.57 (n)
  • 87.98 (a)
chicken
(Gallus gallus)
Aves BLK 35
  • 72.05 (n)
  • 73.49 (a)
BLK 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLK 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia blk 35
  • 65.81 (n)
  • 67.1 (a)
zebrafish
(Danio rerio)
Actinopterygii blk 35
  • 67.25 (n)
  • 69.13 (a)
blk 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Src64B 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea src-1 37
  • 43 (a)
W01B6.5 37
  • 29 (a)
kin-26 37
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
ManyToMany
-- 36
  • 50 (a)
ManyToMany
-- 36
  • 48 (a)
ManyToMany
Species with no ortholog for BLK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BLK Gene

ENSEMBL:
Gene Tree for BLK (if available)
TreeFam:
Gene Tree for BLK (if available)

Paralogs for BLK Gene

Paralogs for BLK Gene

genes like me logo Genes that share paralogs with BLK: view

Variants for BLK Gene

Sequence variations from dbSNP and Humsavar for BLK Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs14053 -- 11,564,200(-) ACAGG(C/G)GACAC utr-variant-3-prime
rs899369 -- 11,550,720(+) AATTG(A/T)GGGGA intron-variant
rs922483 -- 11,494,403(+) GCTGC(C/T)ACCTC utr-variant-5-prime
rs922484 -- 11,550,892(+) ATGAA(C/T)GTGTA intron-variant
rs922485 -- 11,551,097(+) CCATG(C/T)CTTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BLK Gene

Variant ID Type Subtype PubMed ID
esv34097 CNV Loss 18971310
esv2736606 CNV Deletion 23290073
nsv520117 CNV Gain 19592680
dgv866n27 CNV Gain 19166990
nsv397436 CNV Loss 16902084
nsv890358 CNV Loss 21882294
nsv523827 CNV Gain 19592680

Relevant External Links for BLK Gene

HapMap Linkage Disequilibrium report
BLK
Human Gene Mutation Database (HGMD)
BLK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLK Gene

Disorders for BLK Gene

(1) OMIM Diseases for BLK Gene (191305)

UniProtKB/Swiss-Prot

BLK_HUMAN
  • Maturity-onset diabetes of the young 11 (MODY11) [MIM:613375]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:19667185}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for BLK Gene

(3) Novoseek inferred disease relationships for BLK Gene

Disease -log(P) Hits PubMed IDs
lupus erythematosus systemic 33.6 1
lymphoma 14.1 2
necrosis 0 1

Relevant External Links for BLK

Genetic Association Database (GAD)
BLK
Human Genome Epidemiology (HuGE) Navigator
BLK
Tumor Gene Database (TGDB):
BLK
genes like me logo Genes that share disorders with BLK: view

Publications for BLK Gene

  1. Molecular cloning and chromosomal localization of the human homologue of a B-lymphocyte specific protein tyrosine kinase (blk). (PMID: 7845672) Drebin J.A. … Niederhuber J.E. (Oncogene 1995) 2 3 4 23
  2. In vivo and in vitro specificity of protein tyrosine kinases for immunoglobulin G receptor (FcgammaRII) phosphorylation. (PMID: 8756631) Bewarder N. … Frey J. (Mol. Cell. Biol. 1996) 3 4 23
  3. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. (PMID: 18204098) Hom G. … Behrens T.W. (N. Engl. J. Med. 2008) 3 23 48
  4. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. (PMID: 19667185) Borowiec M. … Doria A. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 23
  5. Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population. (PMID: 19180478) Ito I. … Tsuchiya N. (Arthritis Rheum. 2009) 3 23 48

Products for BLK Gene

  • Addgene plasmids for BLK

Sources for BLK Gene

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