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
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	241,640,254 bp[1]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• Rab GTPase binding; • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity; • GDP-dissociation inhibitor activity;
Cellular component	• nucleoplasm; • Rab-protein geranylgeranyltransferase complex; • cytoplasm; • 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; • GO:0048552 regulation of catalytic activity; • small GTPase mediated signal transduction; • post-translational 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.[4][5]

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.[5]

Interactions

CHML (gene) has been shown to interact with RAB1A[6][7] and RAB5A.[6][7]

References

GRCh38: Ensembl release 89: ENSG00000203668 - 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.
"Entrez Gene: CHML choroideremia-like (Rab escort protein 2)".
Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover KD, et al. (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex". Biochemistry. 37 (36): 12559–68. doi:10.1021/bi980881a. PMID 9730828.
Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (January 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111–7. doi:10.1016/S0021-9258(17)42142-9. PMID 8294464.

Cremers FP, Molloy CM, van de Pol DJ, van den Hurk JA, Bach I, Geurts van Kessel AH, Ropers HH (May 1992). "An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q". Human Molecular Genetics. 1 (2): 71–5. doi:10.1093/hmg/1.2.71. PMID 1301160.
Seabra MC, Ho YK, Anant JS (October 1995). "Deficient geranylgeranylation of Ram/Rab27 in choroideremia". The Journal of Biological Chemistry. 270 (41): 24420–7. doi:10.1074/jbc.270.41.24420. PMID 7592656.
von Bokhoven H, von Genderen C, Molloy CM, van de Pol DJ, Cremers CW, von Aarem A, et al. (January 1994). "Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II". Genomics. 19 (2): 385–7. doi:10.1006/geno.1994.1077. PMID 8188272.
Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (January 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111–7. doi:10.1016/S0021-9258(17)42142-9. PMID 8294464.
Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover KD, et al. (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex". Biochemistry. 37 (36): 12559–68. doi:10.1021/bi980881a. PMID 9730828.
Chan D, Lin J, Raffaniello RD (December 2000). "Expression and localization of rab escort protein isoforms in parotid acinar cells from rat". Journal of Cellular Physiology. 185 (3): 339–47. doi:10.1002/1097-4652(200012)185:3<339::AID-JCP4>3.0.CO;2-4. PMID 11056004.
Kasper G, Taudien S, Staub E, Mennerich D, Rieder M, Hinzmann B, et al. (July 2002). "Different structural organization of the encephalopsin gene in man and mouse". Gene. 295 (1): 27–32. doi:10.1016/S0378-1119(02)00799-0. PMID 12242008.
Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC (January 2003). "Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface". Biochemical and Biophysical Research Communications. 301 (1): 92–7. doi:10.1016/S0006-291X(02)02963-7. PMID 12535645.
Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, et al. (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, et al. (December 2005). "Transcriptome analysis of human gastric cancer". Mammalian Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674. S2CID 69278.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

External links

Human CHML genome location and CHML gene details page in the UCSC Genome Browser.

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

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

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

[pmid7981670-4] 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-5] "Entrez Gene: CHML choroideremia-like (Rab escort protein 2)".

[pmid9730828-6] Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover KD, et al. (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex". Biochemistry. 37 (36): 12559–68. doi:10.1021/bi980881a. PMID 9730828.

[pmid8294464-7] Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (January 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111–7. doi:10.1016/S0021-9258(17)42142-9. PMID 8294464.

CHML (gene)

Interactions

References

Further reading

External links