Bos taurus Gene: CHM
Summary
InnateDB Gene IDBG-635076.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHM
Gene Name rab proteins geranylgeranyltransferase component A 1
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000009598
Encoded Proteins
choroideremia (Rab escort protein 1)
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:74152508-74398550
Strand Forward strand
Band
Transcripts
ENSBTAT00000012631 ENSBTAP00000012631
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 5 interaction(s) predicted by orthology.
Predicted by orthology
Total 5 [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
Mus musculus
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.63390
RefSeq NM_001205389
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas