CHML (gene): Difference between revisions

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{{Infobox_gene}}
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'''Rab proteins geranylgeranyltransferase component A 2''' is an [[enzyme]] that in humans is encoded by the ''CHML'' [[gene]].<ref name="pmid7981670">{{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 }}</ref><ref name="entrez">{{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 = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Choroideremia-like (Rab escort protein 2)
| HGNCid = 1941
| Symbol = CHML
| AltSymbols =; FLJ10071; FLJ13361; REP2
| OMIM = 118825
| ECnumber = 
| Homologene = 31055
| MGIid = 101913
| GeneAtlas_image1 = PBB_GE_CHML_206079_at_tn.png
| Function = {{GNF_GO|id=GO:0004663 |text = Rab-protein geranylgeranyltransferase activity}} {{GNF_GO|id=GO:0005084 |text = Rab escort protein activity}} {{GNF_GO|id=GO:0005096 |text = GTPase activator activity}}
| Component = {{GNF_GO|id=GO:0005968 |text = Rab-protein geranylgeranyltransferase complex}}
| Process = {{GNF_GO|id=GO:0006886 |text = intracellular protein transport}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0043087 |text = regulation of GTPase activity}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1122
    | Hs_Ensembl = ENSG00000203668
    | Hs_RefseqProtein = NP_001812
    | Hs_RefseqmRNA = NM_001821
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 239858778
    | Hs_GenLoc_end = 239865855
    | Hs_Uniprot = P26374
    | Mm_EntrezGene = 12663
    | Mm_Ensembl =   
    | Mm_RefseqmRNA = NM_021350
    | Mm_RefseqProtein = NP_067325
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr =   
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Choroideremia-like (Rab escort protein 2)''', also known as '''CHML''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHML choroideremia-like (Rab escort protein 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1122| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: CHML choroideremia-like (Rab escort protein 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1122| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez" />
}}
}}
==Interactions==
CHML (gene) has been shown to [[Protein-protein interaction|interact]] with [[RAB1A]]<ref name=pmid9730828>{{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 = }}</ref><ref name=pmid8294464>{{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 = }}</ref> and [[RAB5A]].<ref name=pmid9730828/><ref name=pmid8294464/>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Cremers FP, Molloy CM, van de Pol DJ, ''et al.'' |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=  }}
*{{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  | author=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= }}
*{{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  | author=van Bokhoven H, van den Hurk JA, Bogerd L, ''et al.'' |title=Cloning and characterization of the human choroideremia gene. |journal=Hum. Mol. Genet. |volume=3 |issue= 7 |pages= 1041-6 |year= 1995 |pmid= 7981670 |doi= }}
*{{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  | author=von Bokhoven H, von Genderen C, Molloy CM, ''et al.'' |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=  }}
*{{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  | author=Cremers FP, Armstrong SA, Seabra MC, ''et al.'' |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=  }}
*{{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  | author=Anant JS, Desnoyers L, Machius M, ''et al.'' |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 }}
*{{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  | author=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  | author=Kasper G, Taudien S, Staub E, ''et al.'' |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=  }}
*{{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  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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  | author=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=  }}
*{{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  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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 }}
*{{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  | author=Brandenberger R, Wei H, Zhang S, ''et al.'' |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 }}
*{{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  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{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  | author=Oh JH, Yang JO, Hahn Y, ''et al.'' |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 }}
*{{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  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |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 }}
*{{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 }}
*{{cite journal  | author=Gregory SG, Barlow KF, McLay KE, ''et al.'' |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 }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* {{UCSC gene info|CHML}}
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{{Signal transducing adaptor proteins}}
 
 
{{gene-1-stub}}

Latest revision as of 01:10, 23 June 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. ↑ van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP (January 1995). "Cloning and characterization of the human choroideremia gene". Hum Mol Genet. 3 (7): 1041–6. doi:10.1093/hmg/3.7.1041. PMID 7981670.
  2. ↑ 2.0 2.1 "Entrez Gene: CHML choroideremia-like (Rab escort protein 2)".
  3. ↑ 3.0 3.1 Anant, J S; Desnoyers L; Machius M; Demeler B; Hansen J C; Westover K D; Deisenhofer J; Seabra M C (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex". Biochemistry. UNITED STATES. 37 (36): 12559–68. doi:10.1021/bi980881a. ISSN 0006-2960. PMID 9730828.
  4. ↑ 4.0 4.1 Cremers, F P; Armstrong S A; Seabra M C; Brown M S; Goldstein J L (January 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. UNITED STATES. 269 (3): 2111–7. ISSN 0021-9258. PMID 8294464.

Further reading

External links


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