Rab escort protein 1

CHM
Identifiers
Aliases	CHM, DXS540, GGTA, HSD-32, REP-1, TCD, Rab escort protein 1, CHM Rab escort protein
External IDs	OMIM: 300390 MGI: 892979 HomoloGene: 334 GeneCards: CHM
Gene location (Human)
Chr.	X chromosome (human)[1]
End	86,047,561 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[2]
End	113,185,517 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• Rab geranylgeranyltransferase activity; • Rab GTPase binding; • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity; • GDP-dissociation inhibitor activity;
Cellular component	• cytoplasm; • Rab-protein geranylgeranyltransferase complex; • cytosol; • cell nucleus;
Biological process	• GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity; • intracellular protein transport; • protein geranylgeranylation; • response to stimulus; • visual perception; • protein targeting to membrane; • GO:0048552 regulation of catalytic activity; • small GTPase mediated signal transduction; • regulation of apoptotic process; • post-translational modification; • vesicle-mediated transport;
	Sources:Amigo / QuickGO
Orthologs
	1121
	12662
	ENSG00000188419
	ENSMUSG00000025531
	P24386
	Q9QXG2
NM_000390; NM_001037312; NM_001145414; NM_001320959; NM_001362517;
	NM_001362518; NM_001362519
	NM_018818; NM_001370788; NM_001370789; NM_001370790
NP_000381; NP_001138886; NP_001307888; NP_001349446; NP_001349447;
	NP_001349448
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

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.[5][6]

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.[6]

Interactions

CHM (gene) has been shown to interact with RAB1A,[7] RAB7A[8][9] and RAB3A.[7][10]

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.[6]

References

GRCh38: Ensembl release 89: ENSG00000188419 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000025531 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Molloy CM, van de Pol TJ, Brohet RM, Ropers HH, Cremers FP (May 1992). "Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2". Nucleic Acids Res. 20 (6): 1434. doi:10.1093/nar/20.6.1434. PMC 312214. PMID 1373238.
"Entrez Gene: CHM choroideremia (Rab escort protein 1)".
Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (Jan 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. 269 (3): 2111–7. PMID 8294464.
Rak A, Pylypenko O, Niculae A, Goody RS, Alexandrov K (Jan 2003). "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. doi:10.1016/S1047-8477(02)00634-2. PMID 12576024.
Alexandrov K, Simon I, Iakovenko A, Holz B, Goody RS, Scheidig AJ (Apr 1998). "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. doi:10.1016/S0014-5793(98)00290-7. PMID 9563513.
Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC (Jan 2003). "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. doi:10.1016/S0006-291X(02)02963-7. PMID 12535645.

Sankila EM, Tolvanen R, van den Hurk JA, Cremers FP, de la Chapelle A (1993). "Aberrant splicing of the CHM gene is a significant cause of choroideremia". Nat. Genet. 1 (2): 109–13. doi:10.1038/ng0592-109. PMID 1302003.
Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum RL (1992). "Isolation of a candidate gene for choroideremia". Proc. Natl. Acad. Sci. U.S.A. 89 (6): 2135–9. doi:10.1073/pnas.89.6.2135. PMC 48611. PMID 1549574.
van den Hurk JA, van de Pol TJ, Molloy CM, Brunsmann F, Rüther K, Zrenner E, Pinckers AJ, Pawlowitzki IH, Bleeker-Wagemakers EM, Wieringa B (1992). "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. PMC 1682553. PMID 1598901.
Fodor E, Lee RT, O'Donnell JJ (1991). "Analysis of choroideraemia gene". Nature. 351 (6328): 614. doi:10.1038/351614b0. PMID 1904992.
Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH (1990). "Cloning of a gene that is rearranged in patients with choroideraemia". Nature. 347 (6294): 674–7. doi:10.1038/347674a0. PMID 2215697.
Cremers FP, Sankila EM, Brunsmann F, Jay M, Jay B, Wright A, Pinckers AJ, Schwartz M, van de Pol DJ, Wieringa B (1990). "Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases". Am. J. Hum. Genet. 47 (4): 622–8. PMC 1683797. PMID 2220804.
Donnelly P, Menet H, Fouanon C, Herbert O, Moisan JP, Le Roux MG, Pascal O (1994). "Missense mutation in the choroideremia gene". Hum. Mol. Genet. 3 (6): 1017. doi:10.1093/hmg/3.6.1017. PMID 7951216.
Alexandrov K, Horiuchi H, Steele-Mortimer O, Seabra MC, Zerial M (1994). "Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes". EMBO J. 13 (22): 5262–73. PMC 395482. PMID 7957092.
van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP (1995). "Cloning and characterization of the human choroideremia gene". Hum. Mol. Genet. 3 (7): 1041–6. doi:10.1093/hmg/3.7.1041. PMID 7981670.
Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. 269 (3): 2111–7. PMID 8294464.
Seabra MC, Brown MS, Goldstein JL (1993). "Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase". Science. 259 (5093): 377–81. doi:10.1126/science.8380507. PMID 8380507.
Schwartz M, Rosenberg T, van den Hurk JA, van de Pol DJ, Cremers FP (1993). "Identification of mutations in Danish choroideremia families". Hum. Mutat. 2 (1): 43–7. doi:10.1002/humu.1380020108. PMID 8477262.
Overmeyer JH, Wilson AL, Erdman RA, Maltese WA (1998). "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. doi:10.1091/mbc.9.1.223. PMC 25245. PMID 9437002.
Alexandrov K, Simon I, Iakovenko A, Holz B, Goody RS, Scheidig AJ (1998). "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. doi:10.1016/S0014-5793(98)00290-7. PMID 9563513.
Raffaniello RD, Raufman JP (1999). "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. doi:10.1002/(SICI)1097-4644(19990315)72:4<540::AID-JCB9>3.0.CO;2-D. PMID 10022613.
Thomä NH, Iakovenko A, Kalinin A, Waldmann H, Goody RS, Alexandrov K (2001). "Allosteric regulation of substrate binding and product release in geranylgeranyltransferase type II". Biochemistry. 40 (1): 268–74. doi:10.1021/bi002034p. PMID 11141079.
Syed N, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH (2001). "Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia". Ophthalmology. 108 (4): 711–20. doi:10.1016/S0161-6420(00)00643-6. PMID 11297488.
Rak A, Reents R, Pylypenko O, Niculae A, Sidorovitch V, Thomä NH, Waldmann H, Schlichting I, Goody RS, Alexandrov K (2002). "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. 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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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000188419 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025531 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1373238-5] Molloy CM, van de Pol TJ, Brohet RM, Ropers HH, Cremers FP (May 1992). "Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2". Nucleic Acids Res. 20 (6): 1434. doi:10.1093/nar/20.6.1434. PMC 312214. PMID 1373238.

[entrez-6] "Entrez Gene: CHM choroideremia (Rab escort protein 1)".

[pmid8294464-7] Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (Jan 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. 269 (3): 2111–7. PMID 8294464.

[pmid12576024-8] Rak A, Pylypenko O, Niculae A, Goody RS, Alexandrov K (Jan 2003). "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. doi:10.1016/S1047-8477(02)00634-2. PMID 12576024.

[pmid9563513-9] Alexandrov K, Simon I, Iakovenko A, Holz B, Goody RS, Scheidig AJ (Apr 1998). "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. doi:10.1016/S0014-5793(98)00290-7. PMID 9563513.

[pmid12535645-10] Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC (Jan 2003). "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. doi:10.1016/S0006-291X(02)02963-7. PMID 12535645.