MECR: Difference between revisions

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'''Trans-2-enoyl-CoA reductase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''MECR'' [[gene]].<ref name="pmid9795230">{{cite journal |vauthors=Masuda N, Yasumo H, Furusawa T, Tsukamoto T, Sadano H, Osumi T | title = Nuclear receptor binding factor-1 (NRBF-1), a protein interacting with a wide spectrum of nuclear hormone receptors | journal = Gene | volume = 221 | issue = 2 | pages = 225–33 |date=Dec 1998 | pmid = 9795230 | pmc =  | doi =10.1016/S0378-1119(98)00461-2 }}</ref><ref name="pmid12654921">{{cite journal |vauthors=Miinalainen IJ, Chen ZJ, Torkko JM, Pirila PL, Sormunen RT, Bergmann U, Qin YM, Hiltunen JK | title = Characterization of 2-enoyl thioester reductase from mammals. An ortholog of YBR026p/MRF1'p of the yeast mitochondrial fatty acid synthesis type II | journal = J Biol Chem | volume = 278 | issue = 22 | pages = 20154–61 |date=May 2003 | pmid = 12654921 | pmc =  | doi = 10.1074/jbc.M302851200 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MECR mitochondrial trans-2-enoyl-CoA reductase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51102| accessdate = }}</ref>
'''Trans-2-enoyl-CoA reductase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''MECR'' [[gene]].<ref name="pmid9795230">{{cite journal | vauthors = Masuda N, Yasumo H, Furusawa T, Tsukamoto T, Sadano H, Osumi T | title = Nuclear receptor binding factor-1 (NRBF-1), a protein interacting with a wide spectrum of nuclear hormone receptors | journal = Gene | volume = 221 | issue = 2 | pages = 225–33 | date = October 1998 | pmid = 9795230 | pmc =  | doi = 10.1016/S0378-1119(98)00461-2 }}</ref><ref name="pmid12654921">{{cite journal | vauthors = Miinalainen IJ, Chen ZJ, Torkko JM, Pirilä PL, Sormunen RT, Bergmann U, Qin YM, Hiltunen JK | title = Characterization of 2-enoyl thioester reductase from mammals. An ortholog of YBR026p/MRF1'p of the yeast mitochondrial fatty acid synthesis type II | journal = The Journal of Biological Chemistry | volume = 278 | issue = 22 | pages = 20154–61 | date = May 2003 | pmid = 12654921 | pmc =  | doi = 10.1074/jbc.M302851200 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MECR mitochondrial trans-2-enoyl-CoA reductase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51102| access-date = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
== Structure ==
{{PBB_Summary
The MECR gene is located on the [[Chromosome 1|1st chromosome]], with its specific location being 1p35.3.<ref name="entrez" /> The gene contains 15 [[exon]]s.<ref name="entrez" /> MECR encodes a 21.2 kDa protein that is composed of 189 [[amino acid]]s; 10 [[peptide]]s have been observed through [[mass spectrometry]] data.<ref name=COPaKB>]{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = October 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}</ref><ref name="url_COPaKB">{{cite web | url = http://www.heartproteome.org/copa/ProteinInfo.aspx?QType=Protein%20ID&QValue=QQ5SYU3 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = Mitochondrial trans-2-enoyl-CoA reductase}}</ref>
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==Structure==
== Function ==
The MECR gene is located on the 19th chromosome, with its specific location being 19p13.11. The gene contains 15 exons.<ref name="entrez" /> MECR encodes a 21.2 kDa protein that is composed of 189 amino acids; 10 peptides have been observed through mass spectrometry data.<ref name=COPaKB>]{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = Oct 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}</ref><ref name="url_COPaKB">{{cite web | url = http://www.heartproteome.org/copa/ProteinInfo.aspx?QType=Protein%20ID&QValue=QQ5SYU3 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = Mitochondrial trans-2-enoyl-CoA reductase}}</ref>


==References==
mtFAS is a co-factor for several mitochondrial enzymes that synthesize [[lipoic acid]] that is essential for aerobic metabolism.<ref name="pmid30352195">{{cite journal | vauthors = Nowinski SM, Van Vranken JG, Dove KK, Rutter J | title = Impact of Mitochondrial Fatty Acid Synthesis on Mitochondrial Biogenesis | journal = Current Biology | volume = 28 | issue = 20 | pages = R1212–R1219 | date = October 2018 | pmid = 30352195 | doi = 10.1016/j.cub.2018.08.022 }}</ref>
 
A [[Purkinje cell]] specific [[gene knockout|knock out]] of the Mecr gene in mice leads to [[neurodegeneration]].<ref name="pmid30266742">{{cite journal | vauthors = Nair RR, Koivisto H, Jokivarsi K, Miinalainen IJ, Autio KJ, Manninen A, Poutiainen P, Tanila H, Hiltunen JK, Kastaniotis AJ | display-authors = 6 | title = Impaired Mitochondrial Fatty Acid Synthesis Leads to Neurodegeneration in Mice | journal = The Journal of Neuroscience | volume = 38 | issue = 45 | pages = 9781–9800 | date = November 2018 | pmid = 30266742 | doi = 10.1523/JNEUROSCI.3514-17.2018 }}</ref>
 
== Clinical significance ==
Genetic mutations to MECR have been suggested to cause MEPAN Syndrome, a neurometabolic disorder in humans that involves disruptions in the pathway involved in mitochondrial fatty acid synthesis (mtFAS).  MEPAN patients were found to harbor recessive mutations in MECR, and typically present with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI.<ref>{{cite journal | vauthors = Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ | display-authors = 6 | title = MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder | journal = American Journal of Human Genetics | volume = 99 | issue = 6 | pages = 1229–1244 | date = December 2016 | pmid = 27817865 | pmc = 5142118 | doi = 10.1016/j.ajhg.2016.09.021 }}</ref>
 
== References ==
{{reflist}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Torkko JM, Koivuranta KT, Miinalainen IJ, Yagi AI, Schmitz W, Kastaniotis AJ, Airenne TT, Gurvitz A, Hiltunen KJ | title = Candida tropicalis Etr1p and Saccharomyces cerevisiae Ybr026p (Mrf1'p), 2-enoyl thioester reductases essential for mitochondrial respiratory competence | journal = Molecular and Cellular Biology | volume = 21 | issue = 18 | pages = 6243–53 | date = September 2001 | pmid = 11509667 | pmc = 87346 | doi = 10.1128/MCB.21.18.6243-6253.2001 }}
| citations =  
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
*{{cite journal |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal   |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 }}
* {{cite journal | vauthors = Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W | title = Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics | journal = Genome Research | volume = 10 | issue = 5 | pages = 703–13 | date = May 2000 | pmid = 10810093 | pmc = 310876 | doi = 10.1101/gr.10.5.703 }}
*{{cite journal   |vauthors=Lai CH, Chou CY, Ch'ang LY, etal |title=Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. |journal=Genome Res. |volume=10 |issue= 5 |pages= 703–13 |year= 2000 |pmid= 10810093 |doi=10.1101/gr.10.5.703  | pmc=310876 }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 }}
*{{cite journal  |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |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=Gerhard DS, Wagner L, Feingold EA, etal |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 }}
*{{cite journal  |vauthors=Gregory SG, Barlow KF, McLay KE, etal |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}}
{{PDB Gallery|geneid=51102}}
{{PDB Gallery|geneid=51102}}
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Latest revision as of 12:12, 26 December 2018

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Orthologs
SpeciesHumanMouse
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RefSeq (mRNA)

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Wikidata
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Trans-2-enoyl-CoA reductase, mitochondrial is an enzyme that in humans is encoded by the MECR gene.[1][2][3]

Structure

The MECR gene is located on the 1st chromosome, with its specific location being 1p35.3.[3] The gene contains 15 exons.[3] MECR encodes a 21.2 kDa protein that is composed of 189 amino acids; 10 peptides have been observed through mass spectrometry data.[4][5]

Function

mtFAS is a co-factor for several mitochondrial enzymes that synthesize lipoic acid that is essential for aerobic metabolism.[6]

A Purkinje cell specific knock out of the Mecr gene in mice leads to neurodegeneration.[7]

Clinical significance

Genetic mutations to MECR have been suggested to cause MEPAN Syndrome, a neurometabolic disorder in humans that involves disruptions in the pathway involved in mitochondrial fatty acid synthesis (mtFAS). MEPAN patients were found to harbor recessive mutations in MECR, and typically present with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI.[8]

References

  1. ↑ Masuda N, Yasumo H, Furusawa T, Tsukamoto T, Sadano H, Osumi T (October 1998). "Nuclear receptor binding factor-1 (NRBF-1), a protein interacting with a wide spectrum of nuclear hormone receptors". Gene. 221 (2): 225–33. doi:10.1016/S0378-1119(98)00461-2. PMID 9795230.
  2. ↑ Miinalainen IJ, Chen ZJ, Torkko JM, Pirilä PL, Sormunen RT, Bergmann U, Qin YM, Hiltunen JK (May 2003). "Characterization of 2-enoyl thioester reductase from mammals. An ortholog of YBR026p/MRF1'p of the yeast mitochondrial fatty acid synthesis type II". The Journal of Biological Chemistry. 278 (22): 20154–61. doi:10.1074/jbc.M302851200. PMID 12654921.
  3. ↑ 3.0 3.1 3.2 "Entrez Gene: MECR mitochondrial trans-2-enoyl-CoA reductase".
  4. ↑ ]Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  5. ↑ "Mitochondrial trans-2-enoyl-CoA reductase". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
  6. ↑ Nowinski SM, Van Vranken JG, Dove KK, Rutter J (October 2018). "Impact of Mitochondrial Fatty Acid Synthesis on Mitochondrial Biogenesis". Current Biology. 28 (20): R1212–R1219. doi:10.1016/j.cub.2018.08.022. PMID 30352195.
  7. ↑ Nair RR, Koivisto H, Jokivarsi K, Miinalainen IJ, Autio KJ, Manninen A, et al. (November 2018). "Impaired Mitochondrial Fatty Acid Synthesis Leads to Neurodegeneration in Mice". The Journal of Neuroscience. 38 (45): 9781–9800. doi:10.1523/JNEUROSCI.3514-17.2018. PMID 30266742.
  8. ↑ Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, et al. (December 2016). "MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder". American Journal of Human Genetics. 99 (6): 1229–1244. doi:10.1016/j.ajhg.2016.09.021. PMC 5142118. PMID 27817865.

Further reading


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