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FLASH GENE
Symbol DBNDD1 contributors: mct/npt/pgu - updated : 13/11/2008
HGNC name dysbindin (dystrobrevin binding protein 1) domain containing 1
HGNC id 28455
Location 16q24.3      Physical location : 90.071.278 - 90.085.937
Synonym symbol(s) MGC3101, FLJ12582
DNA
TYPE functioning gene
STRUCTURE 14.66 kb     5 Exon(s)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 splicing 2150 16.9 158 - 2009 19349376
4 splicing 2096 19.5 178 - 2009 19349376
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly
Reproductivefemale systemuteruscervix highly
 male systemprostate  predominantly
Urinarybladder   highly
Visualeye   moderately
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to rattus Dbndd1 (81.9 pc)
homolog to murine Dbndd1 (80.7 pc)
Homologene
FAMILY
  • dysbindin family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • functions presynaptically, potentially at or near the synaptic vesicle pool
  • required presynaptically for the retrograde, homeostatic modulation of neurotransmission, and functions in a dose-dependent manner downstream or independently of calcium influx
  • essential for adaptive neural plasticity and may link altered homeostatic signaling with a complex neurological disease
  • possible functions of DBNDD1 at the postsynapse in the regulation of dendritic spine morphogenesis through the interaction with WASF2 and ABI1)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulated by TRIM32 (TRIM32 binds and ubiquitinates dysbindin, a protein implicated in the genetic aetiology of schizophrenia, augmenting its degradation)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to schizophrenia
    Variant & Polymorphism other contribution of dysbindin mutations to schizophrenia may derive from altered homeostatic plasticity as opposed to decreased baseline glutamatergic transmission
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS