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FLASH GENE
Symbol BHLHA15 contributors: mct/pgu - updated : 15-09-2009
HGNC name basic helix-loop-helix family, member a15
HGNC id 22265
Location 7q21.3      Physical location : 97.841.565 - 97.842.271
Synonym name
  • muscle, intestine and stomach expression 1
  • basic helix-loop-helix domain containing, class B, 8
  • class B basic helix-loop-helix protein 8
  • Synonym symbol(s) MIST1, BHLHB8
    DNA
    TYPE functioning gene
    STRUCTURE 0.70 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 706 - 189 - 2006 16645041
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas     Homo sapiens
    Reproductivemale systemseminal vesicles  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier lininguroepithelium  
    Epithelialsecretoryglandularendocrine  Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, perinatal
    Text brain, liver, spleen, skeletal muscle, expressed in lactating mammary glands
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one basic helix-loop-helix (bHLH) domain
  • lacking a classic transcription activation domain and instead possessing an N-terminal region capable of inhibiting heterologous activators
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Bhlhb8
    Homologene
    FAMILY
    CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text expressed within the epithelial layer of the seminal layer of the seminal vesicle following branching morphogenesis but prior to full maturation of cell morphology and function
    basic FUNCTION
  • playing a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated (repression may occur through muscle-specific E-box occupancy by homodimers)
  • may also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain
  • a key regulator of acinar cell function, stability, and identity
  • may function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages
  • regulator in establishing and stabilizing the secreting epithelial cells of the seminal vesicle
  • binding to CATAG E-boxes to activate transcription of genes, including RAB26 and RAB3D
  • transcription factor required for the formation of large specialized secretory vesicles
  • role in regulating the ATP2C2 gene
  • regulates the pancreatic acinar cell expression of ATP2C2
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming homodimers or heterodimers with TCF3 gene products E12 and E47
  • INTERACTION
    DNA binds to the DNA target sequence CANNTG (E box) present in the promoter or enhancer region of numerous developmentally regulated genes
    RNA
    small molecule
    protein
  • critical regulator of differentiation (important target of XBP1, providing an explanation for developmental defects associated with XBP1 loss of function)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    impairs the maintenance of the fully differentiated alveolar state in mammary gland and, implicates BHLHA15 in the control of mammary epithelial cell development
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mist1-null mice are viable but reveal extensive disorganization of the exocrine pancreas
  • Mist1-knockout mice showed progressive deterioration of acinar tissue and widespread dysplasia