Rab escort protein 1 (REP1) also known as rab proteins geranylgeranyltransferase component A 1 is an
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
that in humans is encoded by the ''CHM''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
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 on either one or two
cysteine
Cysteine (; symbol Cys or C) is a semiessential proteinogenic amino acid with the chemical formula, formula . The thiol side chain in cysteine enables the formation of Disulfide, disulfide bonds, and often participates in enzymatic reactions as ...
residues in their
C-terminus
The C-terminus (also known as the carboxyl-terminus, carboxy-terminus, C-terminal tail, carboxy tail, C-terminal end, or COOH-terminus) is the end of an amino acid chain (protein
Proteins are large biomolecules and macromolecules that comp ...
to localize to the correct intracellular membrane.
Interactions
CHM (gene) has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ...
with
RAB1A
Ras-related protein Rab-1A is a protein that in humans is encoded by the ''RAB1A'' gene.
Interactions
RAB1A has been shown to interact with:
* CHML,
* GOLGA2,
* GOLGA5,
* MICAL1
NEDD9-interacting protein with calponin homology and LI ...
,
RAB7A
Ras-related protein Rab-7a is a protein that in humans is encoded by the ''RAB7A'' gene.
Ras-related protein Rab-7a is involved in endocytosis, which is a process that brings substances into a cell. The process of endocytosis works by folding the ...
and
RAB3A
Ras-related protein Rab-3A is a protein that in humans is encoded by the ''RAB3A'' gene. It is involved in calcium-triggered exocytosis in neurons.
Interactions
RAB3A has been shown to interact with:
* RIMS1,
*UNC13A
Unc-13 homolog A ('' ...
.
Clinical significance
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.
See also
* Rab (G-protein)
The Rab family of proteins is a member of the Ras superfamily of small G proteins. Approximately 70 types of Rabs have now been identified in humans. Rab proteins generally possess a GTPase fold, which consists of a six-stranded beta sheet which ...
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Choroideremia
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