Version 5.4
Mus musculus Gene: Chm
Summary
InnateDB Gene IDBG-168904.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Chm
Gene Name choroidermia
Synonyms Rep-1
Species Mus musculus
Ensembl Gene ENSMUSG00000025531
Encoded Proteins
IDBP-168906
choroidermia
IDBP-253991
choroidermia
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000188419:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:113040593-113185517
Strand Reverse strand
Band E1
Transcripts
ENSMUST00000026607 ENSMUSP00000026607
ENSMUST00000113388 ENSMUSP00000109015
ENSMUST00000153417
ENSMUST00000135821
ENSMUST00000133469
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004663 Rab geranylgeranyltransferase activity
GO:0017137 Rab GTPase binding
Biological Process
GO:0001568 blood vessel development
GO:0006612 protein targeting to membrane
GO:0006886 intracellular protein transport
GO:0008152 metabolic process
GO:0018344 protein geranylgeranylation
Cellular Component
GO:0005829 cytosol
GO:0005968 Rab-protein geranylgeranyltransferase complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000188419
View Gene Order
ENSBTAG00000009598
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.257316 Mm.412374
RefSeq NM_018818 XM_006528381 XM_006528382 XM_006528383 XM_006528384
OMIM
CCDS CCDS41107
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca