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Chm
Gene Detail
 Symbol
Name
ID
Chm
choroidermia
MGI:892979
Synonyms Rep-1
Feature Type protein coding gene
Genetic Map
Chromosome X
48.94 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
ChrX:113040595-113185517 bp, - strand
From VEGA annotation of GRCm38

  144923 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:334  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: Rab protein geranylgeranyltransferase, component A, eukaryotic type
Gene Tree: Chm

Human
homologs
Human Homolog CHM, choroideremia (Rab escort protein 1)
NCBI Gene ID 1121
neXtProt AC  NX_P24386
Human Synonyms  DXS540, GGTA, HSD-32, REP-1, TCD
Human Chr (Location)  Xq21.2; chrX:85861180-86047562 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human CHM
Alleles
and
phenotypes
All alleles(24) : Gene trapped(17) Targeted(7)
Incidental mutations (data from APF )
 
For one disruption of this gene, heterozygous female and hemizygous male null mice display embryonic lethality with abnormal extraembryonic tissue development. For other disruptions however, heterozygous mice do survive and display depigmentation and degeneration of the retina.
 
Human Diseases Modeled Using Mouse Chm (1)    Alleles Annotated to Human Diseases(3)   
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process blood vessel development, intracellular protein transport, ...
Component cytoplasm, cytosol, ...
Function GTPase activator activity, Rab geranylgeranyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (1)    Tissues (1)    Images (1)
Theiler Stages: 23
Assay TypeResults
RNA in situ 1
cDNA source data(55)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(57) Genomic(1) cDNA(56)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000018561 (Evidence)
Ensembl Gene ModelENSMUSG00000025531 (Evidence)
Entrez Gene12662 (Evidence)
UniGene257316
DFCITC1580375, TC1587636, TC1608581, TC1638588
DoTSDT.101271080, DT.101331990, DT.484673
NIA Mouse Gene IndexU020165
Consensus CDS ProjectCCDS41107.1
International Mouse Knockout Project StatusChm
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018561 VEGA Gene Model | MGI Sequence Detail 144923 C57BL/6J ±  kb
transcript OTTMUST00000044722 VEGA | MGI Sequence Detail 4866 Not Applicable 
polypeptide OTTMUSP00000020137 VEGA | MGI Sequence Detail 662 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(11) UniProt(5)
Polymorphisms SNPs within 2kb(743 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR018203 GDP dissociation inhibitor
InterPro IPR001738 Rab escort (choroideraemia) protein
InterPro IPR016664 Rab protein geranylgeranyltransferase component A, eukaryota
Protein Ontology PR:000005430 rab proteins geranylgeranyltransferase component A 1
References (Earliest) J:40673 van den Hurk JA, et al., Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet. 1997 Jun;6(6):851-8
(Latest) J:198276 Wavre-Shapton ST, et al., Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium. PLoS One. 2013;8(2):e57769
All references(37)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory