Genomes and Genes
Gene Symbol: CHML
Description: CHM like, Rab escort protein 2
Alias: REP2, rab proteins geranylgeranyltransferase component A 2, choroideraemia-like protein, choroideremia-like (Rab escort protein 2), choroideremia-like protein
- Wang X, Wu Z, Xiang Q, Li Z, Zhang R, Chen J, et al. Characterization of the nuclear localization signals of duck circovirus replication proteins. Acta Virol. 2015;59:423-8 pubmed..Based on the viral genotype, there are two categories of Rep proteins: Rep1 and Rep2. To characterize the nuclear localization signals (NLSs) conferring the nuclear localization of the Rep proteins, ..
- White J, Chiano M, Wigglesworth M, Geske R, Riley J, White N, et al. Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation. Hum Mol Genet. 2008;17:1890-903 pubmed publisher..Further screening using the pedigree-based association test (PBAT) identified polymorphisms in the OPN3 and CHML genes as being associated with asthma and atopic asthma after correcting for multiple comparisons...
- McQuaid M, Pinder J, Arumuggam N, Lacoste J, Chew J, Dobson M. The yeast 2-?m plasmid Raf protein contributes to plasmid inheritance by stabilizing the Rep1 and Rep2 partitioning proteins. Nucleic Acids Res. 2017;45:10518-10533 pubmed publisher..Equal partitioning of the plasmid upon host cell division requires plasmid proteins Rep1 and Rep2 and the plasmid STB locus...
- McCauley J, Zuvich R, Bradford Y, Kenealy S, Schnetz Boutaud N, Gregory S, et al. Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. Genes Immun. 2009;10:624-30 pubmed publisher..We found preliminary evidence to suggest that common variation within the RGS7 locus may be involved in disease susceptibility. ..
- Cremers F, Molloy C, van de Pol D, van den Hurk J, Bach I, Geurts van Kessel A, et al. 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. 1992;1:71-5 pubmed..The colocalization of hCHML and Usher syndrome type II, as well as the clinical similarities between choroideremia and Usher syndrome type II, make hCHML a candidate gene for this disorder...
- Schluter A, Szczepanowski R, Kurz N, Schneiker S, Krahn I, Puhler A. Erythromycin resistance-conferring plasmid pRSB105, isolated from a sewage treatment plant, harbors a new macrolide resistance determinant, an integron-containing Tn402-like element, and a large region of unknown function. Appl Environ Microbiol. 2007;73:1952-60 pubmed..Accordingly, pRSB101 and pRSB105 are sister plasmids belonging to a new plasmid family. The second replicon (Rep2) of pRSB105 was classified as a member of the IncP-6 group...
- Rak A, Pylypenko O, Niculae A, Pyatkov K, Goody R, Alexandrov K. Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. Cell. 2004;117:749-60 pubmed
- Pereira Leal J, Strom M, Godfrey R, Seabra M. Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface. Biochem Biophys Res Commun. 2003;301:92-7 pubmed..These results support the hypothesis that Rabs bind REP via conserved RabF motifs and provide a molecular explanation for the preferential recognition of the GDP-bound conformation of Rab by REP. ..
- Sidorovitch V, Niculae A, Kan N, Ceacareanu A, Alexandrov K. Expression of mammalian Rab Escort protein-1 and -2 in yeast Saccharomyces cerevisiae. Protein Expr Purif. 2002;26:50-8 pubmed..Purified proteins were functionally active, as determined by a fluorescent Rab binding assay and in vitro prenylation. The reported procedure provides a reliable source of REP proteins for biochemical and structural studies. ..
- Kasper G, Taudien S, Staub E, Mennerich D, Rieder M, Hinzmann B, et al. Different structural organization of the encephalopsin gene in man and mouse. Gene. 2002;295:27-32 pubmed..e. the number of genes within a certain cluster may differ between man and mouse. OPN3 provides an exception to this rule, since it is positionally uncoupled from other genes of the opsin family. ..
- Chan D, Lin J, Raffaniello R. Expression and localization of rab escort protein isoforms in parotid acinar cells from rat. J Cell Physiol. 2000;185:339-47 pubmed..In addition, unlike other Rab proteins, cytosolic Rab3D appears to associate exclusively with REP, not rab-GDI in parotid acinar cells. ..
- Anant J, Desnoyers L, Machius M, Demeler B, Hansen J, Westover K, et al. Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex. Biochemistry. 1998;37:12559-68 pubmed..Our data suggest a model whereby REP behaves kinetically as an essential activator of the reaction. ..
- Cremers F, Armstrong S, Seabra M, Brown M, Goldstein J. REP-2, a Rab escort protein encoded by the choroideremia-like gene. J Biol Chem. 1994;269:2111-7 pubmed..In the retina, REP-2 may be only partially effective, leading eventually to retinal degeneration and blindness...
- von Bokhoven H, von Genderen C, Molloy C, van de Pol D, Cremers C, von Aarem A, et al. Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. Genomics. 1994;19:385-7 pubmedThe human choroideremia-like (CHML) gene and a locus for Usher syndrome type 2 (USH2) were recently mapped to the 1q31-qter region employing physical mapping and genetic linkage studies, respectively...
- Seabra M, Ho Y, Anant J. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J Biol Chem. 1995;270:24420-7 pubmed..These results raise the possibility that the retinal degeneration in choroideremia results from the deficient geranylgeranylation of Ram/Rab27 or a closely related protein...
- van Bokhoven H, van den Hurk J, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, et al. Cloning and characterization of the human choroideremia gene. Hum Mol Genet. 1994;3:1041-6 pubmed..is highly homologous to the mouse and rat CHM proteins, and, to a slightly lesser extent, to the human CHM-like (CHML) protein. The open reading frame (ORF) of the human CHM gene consists of 15 exons, spanning at least 150 kb of Xq21...