CHML (gene)

CHML
Identifiers
Aliases	CHML, REP2, choroideremia-like (Rab escort protein 2), CHM like, Rab escort protein 2, CHM like Rab escort protein
External IDs	OMIM: 118825; MGI: 101913; HomoloGene: 31055; GeneCards: CHML; OMA:CHML - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	241,640,369 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	175,520,467 bp
RNA expression pattern
	Top expressed in
	sperm; ; ganglionic eminence; ; Brodmann area 23; ; postcentral gyrus; ; ventricular zone; ; visceral pleura; ; superior frontal gyrus; ; placenta; ; testicle; ; primary visual cortex;
	Top expressed in
	superior cervical ganglion; ; vestibular membrane of cochlear duct; ; hand; ; supraoptic nucleus; ; lumbar spinal ganglion; ; atrium; ; tail of embryo; ; substantia nigra; ; lateral geniculate nucleus; ; trigeminal ganglion;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	GTPase activator activity; GDP-dissociation inhibitor activity;
Cellular component	nucleoplasm; Rab-protein geranylgeranyltransferase complex; cytoplasm; cytosol; nucleus;
Biological process	positive regulation of GTPase activity; intracellular protein transport; protein geranylgeranylation; regulation of catalytic activity; small GTPase mediated signal transduction; post-translational protein modification; vesicle-mediated transport;
	Sources:Amigo / QuickGO
Orthologs
	1122
	12663
	ENSG00000203668
	ENSMUSG00000078185
	P26374
	Q9QZD5
	NM_001821; NM_001381853; NM_001381854
	NM_021350
	NP_001812; NP_001368782; NP_001368783
	NP_067325
	Wikidata
View/Edit Human	View/Edit Mouse

Rab proteins geranylgeranyltransferase component A 2 is an enzyme that in humans is encoded by the CHML gene.^[5]^[6]

The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000203668 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000078185 – 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.
^ van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, et al. (July 1994). "Cloning and characterization of the human choroideremia gene". Human Molecular Genetics. 3 (7): 1041–6. doi:10.1093/hmg/3.7.1041. PMID 7981670.
^ ^a ^b "Entrez Gene: CHML choroideremia-like (Rab escort protein 2)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000203668 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000078185 – 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.

[pmid7981670-5] van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, et al. (July 1994). "Cloning and characterization of the human choroideremia gene". Human Molecular Genetics. 3 (7): 1041–6. doi:10.1093/hmg/3.7.1041. PMID 7981670.

[entrez-6] "Entrez Gene: CHML choroideremia-like (Rab escort protein 2)".

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