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; 1 zebrafish

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:85116185-85302566 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CHM

Alleles and phenotypes

All alleles(24) : Targeted(7) Gene trapped(17)
 

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: (6 annotations)

Process	blood vessel development, intracellular protein transport
Component	Rab-protein geranylgeranyltransferase complex
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 Type	Results
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 Model	OTTMUSG00000018561 (Evidence)
Ensembl Gene Model	ENSMUSG00000025531 (Evidence)
Entrez Gene	12662 (Evidence)
UniGene	257316
DFCI	TC1580375, TC1587636, TC1608581, TC1638588
DoTS	DT.101271080, DT.101331990, DT.484673
NIA Mouse Gene Index	U020165
Consensus CDS Project	CCDS41107.1
International Mouse Knockout Project Status	Chm

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018561	VEGA Gene Model | MGI Sequence Detail	144923	C57BL/6J
transcript	OTTMUST00000044722	VEGA | MGI Sequence Detail	4866	Not Applicable
polypeptide	OTTMUSP00000020137	VEGA | MGI Sequence Detail	662	Not Applicable

All sequences(46) RefSeq(4) UniProt(5)

Polymorphisms

SNPs(481 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(35)