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FLASH GENE
Symbol EVI5 contributors: mct - updated : 09-02-2015
HGNC name ecotropic viral integration site 5
HGNC id 3501
Location 1p22.1      Physical location : 92.974.254 - 93.257.961
Synonym name neuroblastoma stage 4S gene
Synonym symbol(s) NB4S
DNA
TYPE functioning gene
STRUCTURE 283.71 kb     18 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - D1S424 - GFI1 - D1S3649 - D1S3750 - [D1S3749 - D1S3747 ] - D1S3748 - D1S3746 - D1S3744 - D1S3743 - D1S2776 - D1S2868 - D1S1870E - cen
Authors Roberts (98)
Text [ ]:breakpoint in the t(1;10) translocation
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 7403 - 810 - 2005 16033705
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately
Digestiveintestinelarge intestinecolon moderately
 intestinesmall intestine  highly
Reproductivefemale systemplacenta  highly
 female systembreastmammary gland moderately
 male systemprostate  moderately
 male systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
Nervousperipherous   
cell lineage
cell lines
fluid/secretion blood
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a TBC domain indicative of Rab GTPase activating protein (GAP) activity
  • an extensive coiled-coil motif in the C-terminal region
  • mono polymer dimer
    HOMOLOGY
    interspecies homolog to murine Tbc1
    homolog to murine Evi5
    intraspecies homolog to HRP1(TRE-2)
    Homologene
    FAMILY
  • USP6/Bub2/CDC16 (TBC) domain-containing proteins subfamily
  • CATEGORY motor/contractile , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • may be involved in centrosome stability and dynamics
  • may cooperate with RAB11A and RAB11B to coordinate vesicular trafficking, cytokinesis, and cell cycle control independent of GTPase-activating protein function
  • acts as a GTPase Activating Protein (GAP) for RAB11A in cytokinesis
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • dimer of 90 and 110Kd (200Kd)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • alpha tubulin
  • gamma tubulin
  • binding RAB11A, and RAB11B, in a GTP-dependent manner
  • requires its Rab-GAP activity to fulfill its functions during migration and acts as a GAP protein for RAB11A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    with TRNG10 to form a chimeric fusion protein in constitutional translocation t(1;10)(p22;q21)
    tumoral     --over  
    in human RUNX1-related leukemias
    Susceptibility to multiple sclerosis
    Variant & Polymorphism other
  • significant risk effect was observed for multiple sclerosis
  • Candidate gene neuroblastoma, infant from stage 4S candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS