CHML (gene)
Choroideremia-like (Rab escort protein 2) | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||
Symbols | CHML ; FLJ10071; FLJ13361; REP2 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 31055 | ||||||||||
| |||||||||||
RNA expression pattern | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Choroideremia-like (Rab escort protein 2), also known as CHML, is a human gene.[1]
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.[1]
References
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. PMID 1301160.
- Seabra MC, Ho YK, Anant JS (1995). "Deficient geranylgeranylation of Ram/Rab27 in choroideremia". J. Biol. Chem. 270 (41): 24420–7. PMID 7592656.
- van Bokhoven H, van den Hurk JA, Bogerd L; et al. (1995). "Cloning and characterization of the human choroideremia gene". Hum. Mol. Genet. 3 (7): 1041–6. PMID 7981670.
- 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. 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. 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. 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. 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. 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. 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.
This protein-related article is a stub. You can help Wikipedia by expanding it. |