CHML (gene)

From Wikipedia, the free encyclopedia

Choroideremia-like (Rab escort protein 2)

Identifiers

CHML; FLJ10071; FLJ13361; REP2

External IDs

OMIM: 118825 MGI: 101913 HomoloGene: 31055

Gene ontology
Molecular Function:	• Rab-protein geranylgeranyltransferase activity • Rab escort protein activity • GTPase activator activity
Cellular Component:	• Rab-protein geranylgeranyltransferase complex
Biological Process:	• intracellular protein transport • visual perception • regulation of GTPase activity

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_001821 (mRNA)
NP_001812 (protein)

NM_021350 (mRNA)
NP_067325 (protein)

Location

Chr 1: 239.86 - 239.87 Mb

n/a

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: CHML choroideremia-like (Rab escort protein 2).

[edit] 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.