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FLASH GENE
Symbol CHM contributors: mct/shn - updated : 29-06-2010
HGNC name choroideremia (Rab escort protein 1)
HGNC id 1940
Corresponding disease
CHM choroideremia
Location Xq21.2      Physical location : 85.116.185 - 85.302.566
Synonym name
  • choroideraemia protein
  • REP-1, Rab escort protein 1
  • Rab proteins geranylgeranyltransferase component A 1
  • TCD protein
  • Rab geranylgeranyltransferase component A
    • Synonym symbol(s) RP1-93L7.1, DXS540, FLJ38564, GGTA, HSD-32, MGC102710, REP-1, TCD
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text subject to X inactivation in some X chromosomes and escaping inactivation in others
    STRUCTURE 186.38 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - DXS8076 - DXS1209 - CHM CHM - DXS1002 - DXS8114 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 5442 - 653 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeuveachoroid  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		a GDP dissociation inhibitor domain
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to CHM, Pan troglodytes
    homolog to yeast MRS6
    ortholog to Chm, Rattus norvegicus
    ortholog to Chm, Mus musculus
    ortholog to chm, Danio rerio
    Homologene
    FAMILY Rab GDI family
    CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • activating geranyl-geranyltransferase A (RABGGTA), prenylating C terminus of RAB
  • involved in lipid modification (prenylation) of Rab GTPases, key regulators of intracellular vesicular transport and organelle dynamics
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text vesicle transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling signal transduction , sensory transduction/vision
    a component omponent A of the RAB geranylgeranyl transferase holoenzyme
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • 60 distinct Rab proteins (Pereira-Leal et al, 2003)
  • RAB7, member RAS oncogene family (Rak et al, 2004)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHM
    related resource REP1Mutations
    Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice disrupted totally for chm/rep-1 gene die in utero and heterozygous mice display photoreceptor cell degeneration (van den Hurk et al, 1997)
  • conditional knockout mouse models for Chm gene lead to progressive degeneration of the photoreceptors, patchy depigmentation of the RPE, and Rab prenylation defects (Tolmachova et al, 2006)
  • Lack of REP-1 protein expression in hfRPE cells leads to reduced degradation of photoreceptor outer segments (Gordiyenko et al, 2010)