Homo sapiens Gene: CHM
Summary
InnateDB Gene IDBG-78632.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHM
Gene Name choroideremia (Rab escort protein 1)
Synonyms DXS540; GGTA; HSD-32; REP-1; TCD;
Species Homo sapiens
Ensembl Gene ENSG00000188419
Encoded Proteins
choroideremia (Rab escort protein 1)
choroideremia (Rab escort protein 1)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:85861180-86047562
Strand Reverse strand
Band q21.2
Transcripts
ENST00000357749 ENSP00000350386
ENST00000467744
ENST00000487515
ENST00000483950
ENST00000615443 ENSP00000484306
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 9 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004663 Rab geranylgeranyltransferase activity
GO:0005096 GTPase activator 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:0007601 visual perception
GO:0008152 metabolic process
GO:0018344 protein geranylgeranylation
GO:0043547 positive regulation of GTPase activity
GO:0050896 response to stimulus
Cellular Component
GO:0005829 cytosol
GO:0005968 Rab-protein geranylgeranyltransferase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.496449
RefSeq NM_000390 NM_001145414 XM_006724615
HUGO
OMIM
CCDS CCDS14454 CCDS48139
HPRD 06563
IMGT
EMBL
GenPept
RNA Seq Atlas