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词条 CHML (gene)
释义

  1. Interactions

  2. References

  3. Further reading

  4. External links

{{Infobox_gene}}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. ^{{cite journal | vauthors = van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP | title = Cloning and characterization of the human choroideremia gene | journal = Hum Mol Genet | volume = 3 | issue = 7 | pages = 1041–6 |date=January 1995 | pmid = 7981670 | pmc = | doi =10.1093/hmg/3.7.1041 }}
2. ^1 {{cite web | title = Entrez Gene: CHML choroideremia-like (Rab escort protein 2)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1122| accessdate = }}
3. ^1 {{cite journal |last=Anant |first=J S |author2=Desnoyers L|author3=Machius M|author4=Demeler B|author5=Hansen J C|author6=Westover K D|author7=Deisenhofer J|author8=Seabra M C |date=September 1998 |title=Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex |journal=Biochemistry |volume=37 |issue=36 |pages=12559–68 |publisher= |location = UNITED STATES| issn = 0006-2960| pmid = 9730828 |doi = 10.1021/bi980881a | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}
4. ^1 {{cite journal |last=Cremers |first=F P |author2=Armstrong S A|author3=Seabra M C|author4=Brown M S|author5=Goldstein J L |date=January 1994 |title=REP-2, a Rab escort protein encoded by the choroideremia-like gene |journal=J. Biol. Chem. |volume=269 |issue=3 |pages=2111–7 |publisher= |location = UNITED STATES| issn = 0021-9258| pmid = 8294464 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors=Cremers FP, Molloy CM, van de Pol DJ |title=An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q |journal=Hum. Mol. Genet. |volume=1 |issue= 2 |pages= 71–5 |year= 1993 |pmid= 1301160 |doi=10.1093/hmg/1.2.71 |display-authors=etal}}
  • {{cite journal | vauthors=Seabra MC, Ho YK, Anant JS |title=Deficient geranylgeranylation of Ram/Rab27 in choroideremia |journal=J. Biol. Chem. |volume=270 |issue= 41 |pages= 24420–7 |year= 1995 |pmid= 7592656 |doi=10.1074/jbc.270.41.24420 }}
  • {{cite journal | vauthors=von Bokhoven H, von Genderen C, Molloy CM |title=Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II |journal=Genomics |volume=19 |issue= 2 |pages= 385–7 |year= 1994 |pmid= 8188272 |doi=10.1006/geno.1994.1077 |display-authors=etal}}
  • {{cite journal | vauthors=Cremers FP, Armstrong SA, Seabra MC |title=REP-2, a Rab escort protein encoded by the choroideremia-like gene |journal=J. Biol. Chem. |volume=269 |issue= 3 |pages= 2111–7 |year= 1994 |pmid= 8294464 |doi= |display-authors=etal}}
  • {{cite journal | vauthors=Anant JS, Desnoyers L, Machius M |title=Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex |journal=Biochemistry |volume=37 |issue= 36 |pages= 12559–68 |year= 1999 |pmid= 9730828 |doi= 10.1021/bi980881a |display-authors=etal}}
  • {{cite journal | vauthors=Chan D, Lin J, Raffaniello RD |title=Expression and localization of rab escort protein isoforms in parotid acinar cells from rat |journal=J. Cell. Physiol. |volume=185 |issue= 3 |pages= 339–47 |year= 2000 |pmid= 11056004 |doi= 10.1002/1097-4652(200012)185:3<339::AID-JCP4>3.0.CO;2-4 }}
  • {{cite journal | vauthors=Kasper G, Taudien S, Staub E |title=Different structural organization of the encephalopsin gene in man and mouse |journal=Gene |volume=295 |issue= 1 |pages= 27–32 |year= 2003 |pmid= 12242008 |doi=10.1016/S0378-1119(02)00799-0 |display-authors=etal}}
  • {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal|bibcode=2002PNAS...9916899M }}
  • {{cite journal | vauthors=Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC |title=Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface |journal=Biochem. Biophys. Res. Commun. |volume=301 |issue= 1 |pages= 92–7 |year= 2003 |pmid= 12535645 |doi=10.1016/S0006-291X(02)02963-7 }}
  • {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
  • {{cite journal | vauthors=Brandenberger R, Wei H, Zhang S |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707–16 |year= 2005 |pmid= 15146197 |doi= 10.1038/nbt971 |display-authors=etal}}
  • {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
  • {{cite journal | vauthors=Oh JH, Yang JO, Hahn Y |title=Transcriptome analysis of human gastric cancer |journal=Mamm. Genome |volume=16 |issue= 12 |pages= 942–54 |year= 2006 |pmid= 16341674 |doi= 10.1007/s00335-005-0075-2 |display-authors=etal}}
  • {{cite journal | vauthors=Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |display-authors=etal}}
  • {{cite journal | vauthors=Gregory SG, Barlow KF, McLay KE |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |display-authors=etal|bibcode=2006Natur.441..315G }}
{{refend}}

External links

  • {{UCSC gene info|CHML}}
{{Signal transducing adaptor proteins}}{{gene-1-stub}}
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