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    Chm CHM, Rab escort protein 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 24942, updated on 1-Oct-2017
    Official Symbol
    Chmprovided by RGD
    Official Full Name
    CHM, Rab escort protein 1provided by RGD
    Primary source
    RGD:2340
    See related
    Ensembl:ENSRNOG00000000161
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    may function as Rab escort protein (REP); mutations in human homolog associated with choroideremia, a disease of retinal degeneration [RGD, Feb 2006]
    Expression
    Biased expression in Thymus (RPKM 114.1), Kidney (RPKM 95.0) and 9 other tissues See more
    Orthologs
    Location:
    Xq31
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    106 current Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (84666900..84821775, complement)
    104 previous assembly Rnor_5.0 (GCF_000001895.4) X NC_005120.3 (84610339..84767421, complement)

    Chromosome X - NC_005120.4Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102550604 Neighboring gene dim gamma-tubulin 1-like Neighboring gene microRNA 361 Neighboring gene dachshund family transcription factor 2 Neighboring gene similar to Ras-GTPase-activating protein binding protein 1 (ATP-dependent DNA helicase VIII) (GAP SH3-domain binding protein 1) (G3BP-1) (HDH-VIII)

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    GDP-dissociation inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Rab GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rab GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Rab GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    blood vessel development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein geranylgeranylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein geranylgeranylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein geranylgeranylation ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    protein geranylgeranylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein targeting to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    protein targeting to membrane ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    protein targeting to membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Rab-protein geranylgeranyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rab-protein geranylgeranyltransferase complex IEA
    Inferred from Electronic Annotation
    more info
     
    Rab-protein geranylgeranyltransferase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Rab-protein geranylgeranyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    Rab-protein geranylgeranyltransferase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    rab proteins geranylgeranyltransferase component A 1
    Names
    REP-1
    choroideraemia protein homolog
    choroideremia (Rab escort protein 1)
    choroideremia protein homolog
    choroidermia
    rab escort protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_017067.1NP_058763.1  rab proteins geranylgeranyltransferase component A 1

      See identical proteins and their annotated locations for NP_058763.1

      Status: PROVISIONAL

      Source sequence(s)
      L13722
      UniProtKB/Swiss-Prot
      P37727
      Related
      ENSRNOP00000000174.6, ENSRNOT00000000174.7
      Conserved Domains (1) summary
      cl21454
      Location:6530
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RefSeqs of Annotated Genomes: Rattus norvegicus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference Rnor_6.0 Primary Assembly

    Genomic

    1. NC_005120.4 Reference Rnor_6.0 Primary Assembly

      Range
      84666900..84821775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Rn_Celera

    Genomic

    1. AC_000089.1 Alternate Rn_Celera

      Range
      79495432..79653919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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