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    CHM CHM, Rab escort protein 1 [ Homo sapiens (human) ]

    Gene ID: 1121, updated on 16-Jul-2017
    Official Symbol
    CHMprovided by HGNC
    Official Full Name
    CHM, Rab escort protein 1provided by HGNC
    Primary source
    HGNC:HGNC:1940
    See related
    Ensembl:ENSG00000188419 MIM:300390; Vega:OTTHUMG00000021937
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TCD; GGTA; REP-1; DXS540; HSD-32
    Summary
    This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
    Orthologs
    Location:
    Xq21.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (85861180..86047565, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (85116185..85302566, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene microRNA 1321 Neighboring gene SFR1 pseudogene 2 Neighboring gene microRNA 361 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 7 Neighboring gene stress induced phosphoprotein 1 pseudogene 3

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Choroideremia
    MedGen: C0008525 OMIM: 303100 GeneReviews: Choroideremia
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.
    NHGRI GWA Catalog
    NHGRI GWA Catalog
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
      RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
    • RAB geranylgeranylation, organism-specific biosystem (from REACTOME)
      RAB geranylgeranylation, organism-specific biosystemHuman cells have more than 60 RAB proteins that are involved in trafficking of proteins in the endolysosomal system. These small GTPases contribute to trafficking specificity by localizing to the mem...
    • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
    • TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, organism-specific biosystem (from REACTOME)
      TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, organism-specific biosystemThe exact mechanisms of action of several other pro-apoptotic TP53 (p53) targets, such as TP53I3 (PIG3), RABGGTA, BCL2L14, BCL6, NDRG1 and PERP, remain uncertain (Attardi et al. 2000, Guo et al. 2001...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ38564, MGC102710

    Gene Ontology Provided by GOA

    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 IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Rab geranylgeranyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    membrane organization TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein geranylgeranylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein targeting to membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Rab-protein geranylgeranyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    rab proteins geranylgeranyltransferase component A 1
    Names
    choroideremia (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.

    Genomic

    1. NG_009874.2 RefSeqGene

      Range
      5001..191383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_699

    mRNA and Protein(s)

    1. NM_000390.3NP_000381.1  rab proteins geranylgeranyltransferase component A 1 isoform a

      See identical proteins and their annotated locations for NP_000381.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK291160, AL022401, BU688880, DB231066, X78121
      Consensus CDS
      CCDS14454.1
      UniProtKB/Swiss-Prot
      P24386
      UniProtKB/TrEMBL
      A8K545
      Related
      ENSP00000350386.2, OTTHUMP00000023628, ENST00000357749.6, OTTHUMT00000057396
      Conserved Domains (2) summary
      pfam13450
      Location:1354
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:225542
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. NM_001145414.3NP_001138886.1  rab proteins geranylgeranyltransferase component A 1 isoform b

      See identical proteins and their annotated locations for NP_001138886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a novel 3' terminal exon and lacks many exons at the 3' end compared to variant 1. The resulting isoform (b) is shorter with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC032237, DB231066
      Consensus CDS
      CCDS48139.1
      UniProtKB/Swiss-Prot
      P24386
      Related
      ENSP00000484306.1, OTTHUMP00000276774, ENST00000615443.1, OTTHUMT00000057397
      Conserved Domains (1) summary
      cl21454
      Location:561
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. NM_001320959.1NP_001307888.1  rab proteins geranylgeranyltransferase component A 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, which results in translation initiation at an in-frame downstream start codon compared to variant 1. The resulting isoform (c) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AK291160, AL022401, BU688880, DA403806, X78121
      UniProtKB/Swiss-Prot
      P24386
      UniProtKB/TrEMBL
      A8K545, B4DRL9
      Conserved Domains (1) summary
      cl21454
      Location:77394
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      85861180..86047565 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029246.1XP_016884735.1  rab proteins geranylgeranyltransferase component A 1 isoform X2

      UniProtKB/TrEMBL
      B4DRL9
      Conserved Domains (1) summary
      cl21454
      Location:77394
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. XM_017029244.1XP_016884733.1  rab proteins geranylgeranyltransferase component A 1 isoform X2

      UniProtKB/TrEMBL
      B4DRL9
      Conserved Domains (1) summary
      cl21454
      Location:77394
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. XM_017029245.1XP_016884734.1  rab proteins geranylgeranyltransferase component A 1 isoform X2

      UniProtKB/TrEMBL
      B4DRL9
      Conserved Domains (1) summary
      cl21454
      Location:77394
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    4. XM_017029243.1XP_016884732.1  rab proteins geranylgeranyltransferase component A 1 isoform X2

      UniProtKB/TrEMBL
      B4DRL9
      Conserved Domains (1) summary
      cl21454
      Location:77394
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    5. XM_017029242.1XP_016884731.1  rab proteins geranylgeranyltransferase component A 1 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      85009817..85196134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001037312.1: Suppressed sequence

      Description
      NM_001037312.1: This RefSeq was permanently suppressed because the alternate 3'UTR represented is supported by few transcripts and the resulting protein is significantly truncated.
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