Bos taurus Gene: CHM | |||||||||||
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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)
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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] |
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Gene Information | |||||||||||
Type | Protein coding | ||||||||||
Genomic Location | Chromosome X:74152508-74398550 | ||||||||||
Strand | Forward strand | ||||||||||
Band | |||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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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 | |||||||||||