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FLASH GENE
Symbol RAB3GAP1 contributors: mct - updated : 29-04-2011
HGNC name RAB3 GTPase activating protein subunit 1 (catalytic)
HGNC id 17063
Corresponding disease
WARBM1 Warburg micro syndrome 1
Location 2q21.3      Physical location : 135.809.834 - 135.928.277
Genatlas name RAB3 GTPase activating protein
Synonym symbol(s) KIAA0066, P130, RAB3GAP, RAB3GAP130
DNA
TYPE functioning gene
STRUCTURE 118.45 kb     24 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
25 - 4939 - 988 - 2003 12786944
24 - 4918 - 981 - 2003 12786944
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue  highly
Lymphoid/Immunelymph node   highly
Reproductivefemale systemuterus  highly
Respiratoryrespiratory tracttrachea  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
a C terminal catalytic domain
HOMOLOGY
Homologene
FAMILY
CATEGORY regulatory , transport
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
intracellular,nucleus
basic FUNCTION
  • involved in exocytosis and particularly in neurotransmitter release
  • stimulating the GTPase activity of RAB3A and regulating synaptic transmission and plasticity by limiting the amount of the GTP-bound form of RAB3A
  • with RAB3GAP2 encode the catalytic and noncatalytic subunits of the hetrodimeric enzyme RAB3GAP (RAB3GTPase-activating protein), a key regulator of the RAB3 cycle
  • binding of VAPB to RAB3GAP1 is implicated in the regulation of nuclear envelope formation through ERGIC
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    PATHWAY
    metabolism
    signaling
    a component two subunits: the catalytic subunit p130 and the noncatalytic subunit p150
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • VAPB directly binds to RAB3 GTPase activating protein 1 (RAB3GAP1), the catalytic subunit of RAB3GAP, through the two phenylalanines (FF) in an acidic tract (FFAT)-like motif of RAB3GAP1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WARBM1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    polymicrogyria
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS