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FLASH GENE
Symbol DTNBP1 contributors: mct - updated : 20-09-2022
HGNC name dystrobrevin binding protein 1
HGNC id 17328
DNA
TYPE functioning gene
STRUCTURE 140.26 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 1429 - 351 associated almost exclusively with postsynaptic densities (PSDs) 2001 11316798
also called isoform a
9 - 1963 - 303 associated almost exclusively with synaptic vesicles 2001 11316798
  • shorter than variant 1 with a distinct C terminus
  • also called isoform b
    • 8 - 1278 - 316 - 2001 11316798
    9 - 1332 - 334 - 2001 11316798
    10 - 1428 - 270 - 2001 11316798
    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,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    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
  • role of DTNBP1 gene variants in the glutamate neurotransmission system in the human brain at least in the hippocampus
  • potential regulation mechanism for dysbindin-1A in neuronal 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)
  • DTNBP1 and DISC1 form a physiologically functional complex that is essential for normal neurite outgrowth
    • 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)
  • physical interaction between DTNBP1 and DISC1 is critical for the stability of dysbindin and for the process of neurite outgrowth
  • regulation of DTNBP1 by VRK2, providing the association of these two proteins, which are commonly implicated in schizophrenia
    • 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
    constitutional     --low  
    in brain areas of schizophrenic patients
    constitutional     --low  
    in the hippocampus and prefrontal cortex in post mortem brains of schizophrenic patients
    Susceptibility
  • to schizophrenia (rs1011313)
  • to intelligence variation
  • to bipolar disorder
  • to temporal lobe epilepsy (TLE)
    • Variant & Polymorphism SNP
  • influencing intelligence variation
  • association of schizophrenia with SNPs at the 3' end of DTNBP1
  • haplotype increasing the risk of bipolar disorder
  • mutant allele rs2619538 T > A was exclusively observed in TLE patients
    • 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