NP_000381.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
77.5 kDa
NCBI Official Full Name
rab proteins geranylgeranyltransferase component A 1 isoform a
NCBI Official Synonym Full Names
CHM, Rab escort protein 1
NCBI Official Synonym Symbols
TCD; GGTA; REP-1; DXS540; HSD-32 [Similar Products]
NCBI Protein Information
rab proteins geranylgeranyltransferase component A 1
UniProt Protein Name
Rab proteins geranylgeranyltransferase component A 1
UniProt Synonym Protein Names
Choroideremia protein; Rab escort protein 1; REP-1; TCD protein
UniProt Synonym Gene Names
NCBI Summary for CHM
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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
UniProt Comments for CHM
CHM: Binds unprenylated Rab proteins, presents it to the catalytic Rab GGTase dimer, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Also a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation. Defects in CHM are the cause of choroideremia (CHM). An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. Belongs to the Rab GDI family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transferase
Chromosomal Location of Human Ortholog: Xq21.2
Cellular Component: cytosol; Rab-protein geranylgeranyltransferase complex
Molecular Function: Rab GTPase binding; Rab-protein geranylgeranyltransferase activity
Biological Process: post-translational protein modification; protein geranylgeranylation; protein targeting to membrane; regulation of apoptosis
Disease: Choroideremia
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Products associated with CHM recombinant protein
Diseases associated with CHM recombinant protein
Organs/Tissues associated with CHM recombinant protein
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