CHML (gene) explained

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.

Interactions

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

Further reading

• Cremers FP, Molloy CM, van de Pol DJ, van den Hurk JA, Bach I, Geurts van Kessel AH, Ropers HH . 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 . May 1992 . 1301160 . 10.1093/hmg/1.2.71 .
• Seabra MC, Ho YK, Anant JS . Deficient geranylgeranylation of Ram/Rab27 in choroideremia . The Journal of Biological Chemistry . 270 . 41 . 24420–7 . October 1995 . 7592656 . 10.1074/jbc.270.41.24420 . free .
• von Bokhoven H, von Genderen C, Molloy CM, van de Pol DJ, Cremers CW, von Aarem A, Schwartz M, Rosenberg T, Geurts van Kessel AH, Ropers HH . 6 . 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 . January 1994 . 8188272 . 10.1006/geno.1994.1077 .
• Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL . REP-2, a Rab escort protein encoded by the choroideremia-like gene . The Journal of Biological Chemistry . 269 . 3 . 2111–7 . January 1994 . 10.1016/S0021-9258(17)42142-9 . 8294464 . free .
• Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover KD, Deisenhofer J, Seabra MC . 6 . Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex . Biochemistry . 37 . 36 . 12559–68 . September 1998 . 9730828 . 10.1021/bi980881a .
• Chan D, Lin J, Raffaniello RD . Expression and localization of rab escort protein isoforms in parotid acinar cells from rat . Journal of Cellular Physiology . 185 . 3 . 339–47 . December 2000 . 11056004 . 10.1002/1097-4652(200012)185:3<339::AID-JCP4>3.0.CO;2-4 . 23575277 .
• Kasper G, Taudien S, Staub E, Mennerich D, Rieder M, Hinzmann B, Dahl E, Schwidetzky U, Rosenthal A, Rump A . 6 . Different structural organization of the encephalopsin gene in man and mouse . Gene . 295 . 1 . 27–32 . July 2002 . 12242008 . 10.1016/S0378-1119(02)00799-0 .
• Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC . 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 . January 2003 . 12535645 . 10.1016/S0006-291X(02)02963-7 .
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW . 6 . Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation . Nature Biotechnology . 22 . 6 . 707–16 . June 2004 . 15146197 . 10.1038/nbt971 . 27764390 .
• Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS . 6 . Transcriptome analysis of human gastric cancer . Mammalian Genome . 16 . 12 . 942–54 . December 2005 . 16341674 . 10.1007/s00335-005-0075-2 . 69278 .
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S . 6 . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Research . 16 . 1 . 55–65 . January 2006 . 16344560 . 1356129 . 10.1101/gr.4039406 .

Notes and References

1. van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP . 6 . Cloning and characterization of the human choroideremia gene . Human Molecular Genetics . 3 . 7 . 1041–6 . July 1994 . 7981670 . 10.1093/hmg/3.7.1041 .
2. Web site: Entrez Gene: CHML choroideremia-like (Rab escort protein 2).
3. Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover KD, Deisenhofer J, Seabra MC . 6 . Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex . Biochemistry . 37 . 36 . 12559–68 . September 1998 . 9730828 . 10.1021/bi980881a .
4. Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL . REP-2, a Rab escort protein encoded by the choroideremia-like gene . The Journal of Biological Chemistry . 269 . 3 . 2111–7 . January 1994 . 10.1016/S0021-9258(17)42142-9 . 8294464 . free .