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; OMA:CHM - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	86,047,561 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	112,095,214 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; Brodmann area 23; ; middle temporal gyrus; ; germinal epithelium; ; visceral pleura; ; islet of Langerhans; ; postcentral gyrus; ; parietal pleura; ; Achilles tendon; ; lateral nuclear group of thalamus;
	Top expressed in
	ciliary body; ; subdivision of hippocampus; ; Region I of hippocampus proper; ; retinal pigment epithelium; ; Epithelium of choroid plexus; ; iris; ; lateral geniculate nucleus; ; saccule; ; medial geniculate nucleus; ; medial dorsal nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	Rab geranylgeranyltransferase activity; GTPase activator activity; GDP-dissociation inhibitor activity;
Cellular component	cytoplasm; Rab-protein geranylgeranyltransferase complex; cytosol; nucleus;
Biological process	positive regulation of GTPase activity; intracellular protein transport; protein geranylgeranylation; response to stimulus; visual perception; protein targeting to membrane; regulation of catalytic activity; small GTPase mediated signal transduction; regulation of apoptotic process; post-translational protein 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_152579
	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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000188419 – Ensembl, May 2017
^ ^a ^b ^c 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)".

[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)".

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Rab escort protein 1

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