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FLASH GENE
Symbol DTNBP1 contributors: mct - updated : 20-01-2010
HGNC name dystrobrevin binding protein 1
HGNC id 17328
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 1429 - 351 associated almost exclusively with postsynaptic densities (PSDs) 2009 19617633
also called isoform a
9 - 1963 - 303 associated almost exclusively with synaptic vesicles 2009 19617633
  • shorter than variant 1 with a distinct C terminus
  • also called isoform b
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a coiled-coil protein
  • HOMOLOGY
    interspecies ortholog to murine Dtnbp1
    Homologene
    FAMILY
  • dysbindin family
  • CATEGORY chaperone/stress , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • sarcolemma of muscular cells
  • concentrated in tissue enriched insynaptic vesicles and, less commonly, in postsynaptic densities
  • basic FUNCTION
  • involved in maintenance of muscle integrity during the mechanical stress of contraction and relaxation
  • playing a role int he biogenesis of lysosome-related organelles
  • plays a key role in coordinating JNK signaling and actin cytoskeleton required for neural development
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS nervous system
    PATHWAY
    metabolism
    signaling neurotransmission , signal transduction
    a component
  • component with dystrophin and alpha-dystobrevin of the dystrophin protein associated complex DPC and of the biogenesis of lysosome -related organelles complex 1 (BLOC-1)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to alpha and delta dystrobrevin in muscle and brain, respectively
  • interacting with CMYA5
  • binding SNAPIN (binding partner of SNAPIN in the brain, and function of DTNBP1 in presynaptic, postsynaptic and microtubule locations may all be related to known functions of snapin)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPS7 , SCZD3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in dorsolateral prefrontal cortex and hippocampus of schizophrenic patients
    Susceptibility
  • to schizophrenia (rs1011313)
  • to intelligence variation
  • to bipolar disorder
  • Variant & Polymorphism SNP
  • influencing intelligence variation
  • association of schizophrenia with SNPs at the 3' end of DTNBP1
  • haplotype increasing the risk of bipolar disorder
  • Candidate gene candidate gene for SCZD3
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Sandy (sdy) mice that express no dysbindin, owing to a deletion of the DTNBP1 gene showed behavioral abnormalities such as reduced activity, heightened anxiety-like response, and deficits in social interaction, memory, and learning