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

Gene ID: 1121, updated on 22-Aug-2020

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
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

Genomic context

See CHM in Genome Data Viewer
Location:
Xq21.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (85861180..86047558, 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Choroideremia
MedGen: C0008525 OMIM: 303100 GeneReviews: Choroideremia
Compare labs
Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein geranylgeranylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Rab-protein geranylgeranyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab-protein geranylgeranyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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_000390.4NP_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
    P24386
    UniProtKB/TrEMBL
    A8K545
    Related
    ENSP00000350386.2, ENST00000357749.7
    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_001145414.4NP_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: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
  4. NM_001362517.1NP_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
    Conserved Domains (1) summary
    cl21454
    Location:77394
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  5. NM_001362518.2NP_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
    Conserved Domains (1) summary
    cl21454
    Location:77394
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  6. NM_001362519.1NP_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
    Conserved Domains (1) summary
    cl21454
    Location:77394
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    85861180..86047558 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_024452331.1XP_024308099.1  rab proteins geranylgeranyltransferase component A 1 isoform X2

    Conserved Domains (1) summary
    cl21454
    Location:77394
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  3. XM_017029242.2XP_016884731.1  rab proteins geranylgeranyltransferase component A 1 isoform X1

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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