CHML (gene)

Choroideremia-like (Rab escort protein 2)
Identifiers
Symbols	CHML ; REP2
External IDs	OMIM: 118825 MGI: 101913 HomoloGene: 31055 GeneCards: CHML Gene
Gene ontology Molecular function • GTPase activator activity • Rab GTPase binding Cellular component • nucleoplasm • cytoplasm • cytosol • Rab-protein geranylgeranyltransferase complex Biological process • intracellular protein transport • protein geranylgeranylation • positive regulation of GTPase activity Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1122	12663
Ensembl	ENSG00000203668	ENSMUSG00000078185
UniProt	P26374	Q9QZD5
RefSeq (mRNA)	NM_001821	NM_021350
RefSeq (protein)	NP_001812	NP_067325
Location (UCSC)	Chr 1: 241.63 – 241.64 Mb	Chr 1: 175.68 – 175.69 Mb
PubMed search

Rab proteins geranylgeranyltransferase component A 2 is an enzyme that in humans is encoded by the CHML gene.^[1][2]

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.^[2]

Interactions

CHML (gene) has been shown to interact with RAB1A^[3][4] and RAB5A.^[3][4]

References

1. van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP (January 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.
2. "Entrez Gene: CHML choroideremia-like (Rab escort protein 2)".
3. Anant, J S; Desnoyers L; Machius M; Demeler B; Hansen J C; Westover K D; Deisenhofer J; Seabra M C (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex". Biochemistry (UNITED STATES) 37 (36): 12559–68. doi:10.1021/bi980881a. ISSN 0006-2960. PMID 9730828.
4. Cremers, F P; Armstrong S A; Seabra M C; Brown M S; Goldstein J L (January 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. (UNITED STATES) 269 (3): 2111–7. ISSN 0021-9258. PMID 8294464.

Further reading

• Cremers FP, Molloy CM, van de Pol DJ; et al. (1993). "An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q". Hum. Mol. Genet. 1 (2): 71–5. doi:10.1093/hmg/1.2.71. PMID 1301160.
• Seabra MC, Ho YK, Anant JS (1995). "Deficient geranylgeranylation of Ram/Rab27 in choroideremia". J. Biol. Chem. 270 (41): 24420–7. doi:10.1074/jbc.270.41.24420. PMID 7592656.
• von Bokhoven H, von Genderen C, Molloy CM; et al. (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; et al. (1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. 269 (3): 2111–7. PMID 8294464.
• Anant JS, Desnoyers L, Machius M; et al. (1999). "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 (2000). "Expression and localization of rab escort protein isoforms in parotid acinar cells from rat". J. Cell. Physiol. 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; et al. (2003). "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.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC (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.
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Brandenberger R, Wei H, Zhang S; et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Oh JH, Yang JO, Hahn Y; et al. (2006). "Transcriptome analysis of human gastric cancer". Mamm. Genome 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674.
• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Gregory SG, Barlow KF, McLay KE; et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.