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FLASH GENE
Symbol DNMBP contributors: mct/npt - updated : 25-10-2018
HGNC name dynamin binding protein
HGNC id 30373
Corresponding disease
ARCC5 congenital cataract, autosomal recessive 5
Location 10q24.2      Physical location : 101.635.333 - 101.769.676
Synonym name
  • related to guanine nucleotide regulatory protein
  • scaffold protein TUBA
  • Synonym symbol(s) KIAA1010, TUBA, RP11-114F7.3
    DNA
    TYPE functioning gene
    STRUCTURE 134.34 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 6419 177.2 1577 - Otani (2006)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     liver    
     salivary gland   highly
    Endocrineparathyroid   highly
    Reproductivefemale systemovary   
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a bin/amphiphysin/Rvs (BAR) domain
  • four N-terminal SH3 domains
  • a proline-rich region
  • a coiled-coil domain
  • a RhoGEF domain present in the middle of DNMBP
  • a DBL homology (DH) domain
  • two C-terminal SH3 domains
  • HOMOLOGY
    interspecies homolog to guanine nucleotide regulatory protein
    ortholog to flies Sif
    Homologene
    FAMILY
  • DBL guanine nucleotide exchange factors family
  • CATEGORY structural protein , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • linking dynamin to regulation of the actin cytoskeleton
  • Cdc42-specific GEF, controling the shaping of cell junctions through the local activation of Cdc42 and its effectors (Otani 2006)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    nucleotide
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds a variety of actin regulatory proteins, including VASP, CR16, WASF1, WIPF2, CYF1P2, AZI2, WASL, via a C-terminal SH3 domain
  • RhoGEF domain present in the middle of DNMBP is known to activate CDC42 and cooperate with the C terminus of the protein to control actin assembly
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCC5
    Susceptibility to late onset Alzheimer's disease (LOAD)
    Variant & Polymorphism SNP SNP (intergenic SNP rs11190302) was associated with LOAD in individuals lacking the epsilon 4 allele (Morgan 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS