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

    Gene ID: 1121, updated on 4-Jan-2025

    Summary

    Official Symbol
    CHMprovided by HGNC
    Official Full Name
    CHM Rab escort proteinprovided by HGNC
    Primary source
    HGNC:HGNC:1940
    See related
    Ensembl:ENSG00000188419 MIM:300390; AllianceGenome:HGNC:1940
    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]
    Expression
    Ubiquitous expression in brain (RPKM 4.7), thyroid (RPKM 4.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHM in Genome Data Viewer
    Location:
    Xq21.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (85861180..86047558, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (84292297..84478778, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (85116185..85302562, 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 MPRA-validated peak7401 silencer Neighboring gene MPRA-validated peak7402 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:85257530-85258040 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:85270410-85271332 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 7 Neighboring gene stress induced phosphoprotein 1 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (17 hits/889 screens)

    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 2021-03-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-24)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.
    EBI GWAS Catalog
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ38564, MGC102710

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP-dissociation inhibitor activity  
    enables GTPase activator activity  
    enables Rab geranylgeranyltransferase activity PubMed 
    enables protein binding PubMed 
    enables small GTPase binding PubMed 
    enables small GTPase binding PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport  
    involved_in protein geranylgeranylation PubMed 
    involved_in protein targeting to membrane PubMed 
    involved_in small GTPase-mediated signal transduction  
    involved_in vesicle-mediated transport  
    involved_in visual perception  
    Component Evidence Code Pubs
    part_of Rab-protein geranylgeranyltransferase complex  
    part_of Rab-protein geranylgeranyltransferase complex PubMed 
    is_active_in cytosol  
    located_in cytosol PubMed 
    located_in cytosol  
    is_active_in nucleus  

    General protein information

    Preferred Names
    rab proteins geranylgeranyltransferase component A 1
    Names
    CHM, Rab escort protein 1
    choroideremia (Rab escort protein 1)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000390.4 → NP_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, X78121
      Consensus CDS
      CCDS14454.1
      UniProtKB/Swiss-Prot
      A1L4D2, O43732, P24386
      UniProtKB/TrEMBL
      A8K545
      Related
      ENSP00000350386.2, ENST00000357749.7
      Conserved Domains (2) summary
      pfam13450
      Location:13 → 54
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:225 → 542
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. NM_001145414.4 → NP_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, ENST00000615443.1
      Conserved Domains (1) summary
      cl21454
      Location:5 → 61
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. NM_001320959.1 → NP_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/TrEMBL
      B4DRL9
      Conserved Domains (1) summary
      cl21454
      Location:77 → 394
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    4. NM_001362517.1 → NP_001349446.1  rab proteins geranylgeranyltransferase component A 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) 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)
      AL009175, AL022401, AL035451
      UniProtKB/TrEMBL
      B4DRL9
      Conserved Domains (1) summary
      cl21454
      Location:77 → 394
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    5. NM_001362518.2 → NP_001349447.1  rab proteins geranylgeranyltransferase component A 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon and 5' splice site, 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)
      AL009175, AL022401, AL035451
      UniProtKB/TrEMBL
      B4DRL9
      Conserved Domains (1) summary
      cl21454
      Location:77 → 394
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    6. NM_001362519.1 → NP_001349448.1  rab proteins geranylgeranyltransferase component A 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal exon and 5' splice site, 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)
      AL009175, AL022401, AL035451
      UniProtKB/TrEMBL
      B4DRL9
      Conserved Domains (1) summary
      cl21454
      Location:77 → 394
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      85861180..86047558 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441793.1 → XP_047297749.1  rab proteins geranylgeranyltransferase component A 1 isoform X2

      UniProtKB/TrEMBL
      B4DRL9
    2. XM_047441794.1 → XP_047297750.1  rab proteins geranylgeranyltransferase component A 1 isoform X2

      UniProtKB/TrEMBL
      B4DRL9
    3. XM_017029242.3 → XP_016884731.1  rab proteins geranylgeranyltransferase component A 1 isoform X1

      UniProtKB/TrEMBL
      A8K545

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      84292297..84478778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326408.1 → XP_054182383.1  rab proteins geranylgeranyltransferase component A 1 isoform X2

      UniProtKB/TrEMBL
      B4DRL9
    2. XM_054326409.1 → XP_054182384.1  rab proteins geranylgeranyltransferase component A 1 isoform X2

      UniProtKB/TrEMBL
      B4DRL9
    3. XM_054326407.1 → XP_054182382.1  rab proteins geranylgeranyltransferase component A 1 isoform X1

      UniProtKB/TrEMBL
      A8K545

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