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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
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)