ENSG00000136573


Homo sapiens

Features
Gene ID: ENSG00000136573
  
Biological name :BLK
  
Synonyms : BLK / BLK proto-oncogene, Src family tyrosine kinase / P51451
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: p23.1
Gene start: 11486894
Gene end: 11564604
  
Corresponding Affymetrix probe sets: 206255_at (Human Genome U133 Plus 2.0 Array)   210934_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494690
Ensembl peptide - ENSP00000259089
Ensembl peptide - ENSP00000433663
NCBI entrez gene - 640     See in Manteia.
OMIM - 191305
RefSeq - XM_017013730
RefSeq - NM_001715
RefSeq - XM_011543824
RefSeq - XM_011543825
RefSeq - XM_011543827
RefSeq Peptide - NP_001317394
RefSeq Peptide - NP_001706
swissprot - E9PJX5
swissprot - P51451
Ensembl - ENSG00000136573
  
Related genetic diseases (OMIM): 613375 - Maturity-onset diabetes of the young, type 11, 613375
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 blkENSDARG00000007783Danio rerio
 BLKENSGALG00000016661Gallus gallus
 BlkENSMUSG00000014453Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HCK / P08631 / HCK proto-oncogene, Src family tyrosine kinaseENSG0000010133663
LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinaseENSG0000025408761
LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinaseENSG0000018286661
FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinaseENSG0000001081057
YES1 / P07947 / YES proto-oncogene 1, Src family tyrosine kinaseENSG0000017610557
SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinaseENSG0000019712256
FGR / P09769 / FGR proto-oncogene, Src family tyrosine kinaseENSG0000000093855
FRK / P42685 / fyn related Src family tyrosine kinaseENSG0000011181646
SRMS / Q9H3Y6 / src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sitesENSG0000012550839
PTK6 / Q13882 / protein tyrosine kinase 6ENSG0000010121336


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR000980  SH2 domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001452  SH3 domain
 IPR011009  Protein kinase-like domain superfamily
 IPR017441  Protein kinase, ATP binding site
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR035853  Tyrosine-protein kinase Blk, SH2 domain
 IPR036028  SH3-like domain superfamily
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016477 cell migration IBA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0030154 cell differentiation IBA
 biological_processGO:0032024 positive regulation of insulin secretion IMP
 biological_processGO:0035556 intracellular signal transduction TAS
 biological_processGO:0038083 peptidyl-tyrosine autophosphorylation IBA
 biological_processGO:0042127 regulation of cell proliferation IBA
 biological_processGO:0045087 innate immune response IBA
 biological_processGO:0050853 B cell receptor signaling pathway IDA
 biological_processGO:0050855 regulation of B cell receptor signaling pathway TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity IEA
 molecular_functionGO:0004715 non-membrane spanning protein tyrosine kinase activity IEA
 molecular_functionGO:0005102 signaling receptor binding IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
RUNX1 regulates transcription of genes involved in BCR signaling
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000819 Diabetes mellitus 
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0004904 Insulin-dependent maturity-onset diabetes of the young 
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 HP:0025502 Overweight "Increased body weight with a body mass index of 25-29.9 kg per square meter." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000105369 CD79A / P11912 / CD79a molecule  / reaction
 ENSG00000211899 IGHM / P01871 / immunoglobulin heavy constant mu  / reaction
 ENSG00000211898 IGHD / P01880 / immunoglobulin heavy constant delta  / reaction
 ENSG00000007312 CD79B / P40259 / CD79b molecule  / reaction






 

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