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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
    Physical map
    ZCCHC5 Xq13.3 zinc finger, CCHC domain containing 5 GPR23 Xq13-q21.1 G protein-coupled receptor 23 P2RY10 Xq21.1 purinergic receptor P2Y, G-protein coupled, 10 FKSG79 Xq13.3 putative purinergic receptor LOC347363 Xq13.3 similar to Chromosome-associated kinesin KIF4A (Chromokinesin) ITM2A Xq13.3-q21.2 integral membrane protein 2A TBX22 Xq21.1 T-box 22 MGC26999 Xq21.1 hypothetical protein MGC26999 LOC347364 Xq21.1 similar to WW domain binding protein 11; Npw38-binding protein NpwBP; SH3 domain-binding protein SNP70 LOC286425 Xq21.1 similar to hexokinase 2; hexokinase-2, muscle FLJ38568 Xq21.1 hypothetical protein FLJ38568 LOC286426 Xq21.1 similar to Voltage-dependent anion-selective channel protein 1 (VDAC-1) (hVDAC1) (Outer mitochondrial membrane protein porin 1) (Plasmalemmal porin) (Porin 31HL) (Porin 31HM) NSBP1 Xq13.3 nucleosomal binding protein 1 SH3BGRL Xq13.3 SH3 domain binding glutamic acid-rich protein like LOC392500 X similar to ribosomal protein L22 LOC266683 Xq13.3 dendritic cell protein pseudogene POU3F4 Xq21.1 POU domain, class 3, transcription factor 4 LOC158668 Xq21.1 similar to Telomeric repeat binding factor 1 (TTAGGG repeat binding factor 1) (NIMA-interacting protein 2) (Telomeric protein Pin2/TRF1) CYLC1 Xq21.1 cylicin, basic protein of sperm head cytoskeleton 1 RPS6KA6 Xq21 ribosomal protein S6 kinase, 90kDa, polypeptide 6 FLJ30678 Xq21.1 hypothetical protein FLJ30678 MGC42638 Xq21.1 hypothetical protein MGC42638 UNQ8193 Xq21.1 AAIR8193 LOC340562 Xq21.1-q21.2 hypothetical protein LOC340562 ZNF6 Xq21.1 zinc finger protein 6 (CMPX1) POF1B Xq21.2 premature ovarian failure 1B CHM Xq21.2 choroideremia (Rab escort protein 1) LOC347428 Xq21.2 similar to Stress-induced-phosphoprotein 1 (STI1) (Hsp70/Hsp90-organizing protein) (Transformation-sensitive protein IEF SSP 3521) DACH2 Xq21.3 dachshund homolog 2 (Drosophila) bA345E19.2 Xq21.31 COP9 pseudogene KLHL4 Xq21.1-q21.33 kelch-like 4 (Drosophila) LAMRL5 Xq21.31 laminin receptor-like protein LAMRL5 pseudogene MRPS22P1 Xq21.31 mitochondrial ribosomal protein S22 pseudogene 1 CAPZA1P Xq21.3 capping protein (actin filament) muscle Z-line, alpha 1 pseudogene CPXCR1 xq21-3 CPX chromosome region, candidate 1 TGIF2LX Xq21.31 TGFB-induced factor 2-like, X-linked LOC389876 X similar to staufen homolog 2; staufen (Drosophila, RNA-binding protein) 2; staufen (Drosophila, RNA-binding protein) homolog 2 USP12P2 Xq21.31 ubiquitin specific protease 12 pseudogene 2 PABPC5 Xq21.3 poly(A) binding protein, cytoplasmic 5 PCDH11X Xq21.3 protocadherin 11 X-linked LOC392501 X similar to 60S ribosomal protein L26
    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)