Biology:Rab escort protein 1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Rab escort protein 1 (REP1) also known as rab proteins geranylgeranyltransferase component A 1 is an enzyme that in humans is encoded by the CHM gene.[1][2]
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 geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane.[2]
Interactions
CHM (gene) has been shown to interact with RAB1A,[3] RAB7A[4][5] and RAB3A.[3][6]
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.[2]
See also
References
- ↑ "Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2". Nucleic Acids Res 20 (6): 1434. May 1992. doi:10.1093/nar/20.6.1434. PMID 1373238.
- ↑ 2.0 2.1 2.2 "Entrez Gene: CHM choroideremia (Rab escort protein 1)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1121.
- ↑ 3.0 3.1 "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. 269 (3): 2111–7. Jan 1994. doi:10.1016/S0021-9258(17)42142-9. PMID 8294464.
- ↑ "Crystallization and preliminary X-ray diffraction analysis of monoprenylated Rab7 GTPase in complex with Rab escort protein 1". J. Struct. Biol. 141 (1): 93–5. Jan 2003. doi:10.1016/S1047-8477(02)00634-2. PMID 12576024.
- ↑ "Moderate discrimination of REP-1 between Rab7 x GDP and Rab7 x GTP arises from a difference of an order of magnitude in dissociation rates". FEBS Lett. 425 (3): 460–4. Apr 1998. doi:10.1016/S0014-5793(98)00290-7. PMID 9563513.
- ↑ "Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface". Biochem. Biophys. Res. Commun. 301 (1): 92–7. Jan 2003. doi:10.1016/S0006-291X(02)02963-7. PMID 12535645.
Further reading
- "Aberrant splicing of the CHM gene is a significant cause of choroideremia". Nat. Genet. 1 (2): 109–13. 1993. doi:10.1038/ng0592-109. PMID 1302003.
- "Isolation of a candidate gene for choroideremia". Proc. Natl. Acad. Sci. U.S.A. 89 (6): 2135–9. 1992. doi:10.1073/pnas.89.6.2135. PMID 1549574. Bibcode: 1992PNAS...89.2135M.
- "Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing". Am. J. Hum. Genet. 50 (6): 1195–202. 1992. PMID 1598901.
- "Analysis of choroideraemia gene". Nature 351 (6328): 614. 1991. doi:10.1038/351614b0. PMID 1904992. Bibcode: 1991Natur.351..614F.
- "Cloning of a gene that is rearranged in patients with choroideraemia". Nature 347 (6294): 674–7. 1990. doi:10.1038/347674a0. PMID 2215697. Bibcode: 1990Natur.347..674C.
- "Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases". Am. J. Hum. Genet. 47 (4): 622–8. 1990. PMID 2220804.
- "Missense mutation in the choroideremia gene". Hum. Mol. Genet. 3 (6): 1017. 1994. doi:10.1093/hmg/3.6.1017. PMID 7951216.
- "Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes". EMBO J. 13 (22): 5262–73. 1994. doi:10.1002/j.1460-2075.1994.tb06860.x. PMID 7957092.
- "Cloning and characterization of the human choroideremia gene". Hum. Mol. Genet. 3 (7): 1041–6. 1995. doi:10.1093/hmg/3.7.1041. PMID 7981670.
- "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. 269 (3): 2111–7. 1994. doi:10.1016/S0021-9258(17)42142-9. PMID 8294464.
- "Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase". Science 259 (5093): 377–81. 1993. doi:10.1126/science.8380507. PMID 8380507. Bibcode: 1993Sci...259..377S.
- "Identification of mutations in Danish choroideremia families". Hum. Mutat. 2 (1): 43–7. 1993. doi:10.1002/humu.1380020108. PMID 8477262.
- "The putative "switch 2" domain of the Ras-related GTPase, Rab1B, plays an essential role in the interaction with Rab escort protein". Mol. Biol. Cell 9 (1): 223–35. 1998. doi:10.1091/mbc.9.1.223. PMID 9437002.
- "Moderate discrimination of REP-1 between Rab7 x GDP and Rab7 x GTP arises from a difference of an order of magnitude in dissociation rates". FEBS Lett. 425 (3): 460–4. 1998. doi:10.1016/S0014-5793(98)00290-7. PMID 9563513.
- "Cytosolic RAB3D is associated with RAB escort protein (REP), not RAB-GDP dissociation inhibitor (GDI), in dispersed chief cells from guinea pig stomach". J. Cell. Biochem. 72 (4): 540–8. 1999. doi:10.1002/(SICI)1097-4644(19990315)72:4<540::AID-JCB9>3.0.CO;2-D. PMID 10022613.
- "Allosteric regulation of substrate binding and product release in geranylgeranyltransferase type II". Biochemistry 40 (1): 268–74. 2001. doi:10.1021/bi002034p. PMID 11141079.
- "Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia". Ophthalmology 108 (4): 711–20. 2001. doi:10.1016/S0161-6420(00)00643-6. PMID 11297488.
- "Crystallization and preliminary X-ray diffraction analysis of the Rab escort protein-1 in complex with Rab geranylgeranyltransferase". J. Struct. Biol. 136 (2): 158–61. 2002. doi:10.1006/jsbi.2001.4433. PMID 11886217.
External links
- GeneReviews/NCBI/NIH/UW entry on Choroideremia
- Rab+escort+protein+1,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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