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FLASH GENE
Symbol BLK contributors: mct/npt - updated : 11-05-2015
HGNC name B lymphoid tyrosine kinase
HGNC id 1057
Corresponding disease
MODY11 maturity onset diabetes of the young, type 11
Location 8p23.1      Physical location : 11.351.520 - 11.422.107
Synonym name BLK nonreceptor tyrosine kinase
Synonym symbol(s) MGC10442, p55-BLK, MODY11
EC.number 2.7.10.1, 2.7.10.2
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem, head to head
STRUCTURE 70.59 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 2642 - 505 - 2004 14970218
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland   highly
Lymphoid/Immunespleen   highly
 tonsils   highly
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/ImmuneB cell
cell lineage B lymphoid cells
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • SH2 and SH3 domains (signal transduction)
  • HOMOLOGY
    interspecies homolog to murine Blk
    Homologene
    FAMILY
  • protein kinase superfamily
  • Tyr protein kinase family
  • SRC subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    text ? anchored to membrane
    basic FUNCTION
  • may play an important role in the signaling pathways controlling cell proliferation and differentiation
  • induces apoptosis through activation of the cytochrome c-APAF1-caspase-9 pathway
  • BANK1 and the B lymphoid tyrosine kinase (BLK) have been genetically associated with autoimmunity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • can interact with the anti-apoptotic proteins BCL2 and BCLXL
  • BLK suppresses the proliferation of chronic myeloid leukemia (CML) stem cells
  • molecular switch PLCG2 interacts with BANK1 and the interaction is promoted by B-cell receptor (BCR) stimulation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MODY11
    Susceptibility
  • to systemic lupus erythematosus (SLE)
  • to Common Variable Immunodeficiency (CVID)
  • Variant & Polymorphism other
  • polymorphisms increasing the risk of SLE (Harley 2009)
  • genetic variation in the region upstream from the transcription initiation site of the gene encoding B lymphoid tyrosine kinase (BLK) associated with SLE risk (Hom 2008)
  • variant (L3P) in BLK gene in Common Variable Immunodeficiency (CVID)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS