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

Gene ID: 1121, updated on 19-Dec-2014
Official Symbol
CHMprovided by HGNC
Official Full Name
choroideremia (Rab escort protein 1)provided by HGNC
Primary source
HGNC:HGNC:1940
Locus tag
RP1-93L7.1
See related
Ensembl:ENSG00000188419; HPRD:02312; HPRD:06563; 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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]
Location:
Xq21.2
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (85861180..86047562, 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 SWI5-dependent recombination repair 1 pseudogene Neighboring gene microRNA 361 Neighboring gene stress-induced phosphoprotein 1 pseudogene 3 Neighboring gene thiopurine S-methyltransferase pseudogene 4

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ38564, MGC102710

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood vessel development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein geranylgeranylation IDA
Inferred from Direct Assay
more info
PubMed 
protein targeting to membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to stimulus 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 
Preferred Names
rab proteins geranylgeranyltransferase component A 1
Names
rab proteins geranylgeranyltransferase component A 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 

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

mRNA and Protein(s)

  1. NM_000390.2NP_000381.1  rab proteins geranylgeranyltransferase component A 1 isoform a

    See proteins identical to NP_000381.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform a).
    Source sequence(s)
    AL022401, X78121
    Consensus CDS
    CCDS14454.1
    UniProtKB/Swiss-Prot
    P24386
    Related
    ENSP00000350386, OTTHUMP00000023628, ENST00000357749, OTTHUMT00000057396
    Conserved Domains (1) summary
    cl19134
    Location:5529
    NAD_binding_8; NAD(P)-binding Rossmann-like domain
  2. NM_001145414.2NP_001138886.1  rab proteins geranylgeranyltransferase component A 1 isoform b

    See proteins identical to NP_001138886.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a novel 3' terminus, compared to variant 1, that results in a protein (isoform b) with a shorter and novel C-terminus that lacks a GDP dissociation inhibitor domain, compared to isoform a.
    Source sequence(s)
    BC032237, X78121
    Consensus CDS
    CCDS48139.1
    UniProtKB/Swiss-Prot
    P24386
    Related
    ENSP00000484306, OTTHUMP00000276774, ENST00000615443, OTTHUMT00000057397
    Conserved Domains (1) summary
    cl19134
    Location:567
    NAD_binding_8; NAD(P)-binding Rossmann-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    85861180..86047562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724615.1XP_006724678.1  

    Conserved Domains (1) summary
    cl19134
    Location:202508
    NAD_binding_8; NAD(P)-binding Rossmann-like domain

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    85009817..85196131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    78692493..78878455
    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.