MECR

MECR
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1ZSY, 2VCY
Identifikatori
Aliasi	MECR
Vanjski ID-jevi	OMIM: 608205 MGI: 1349441 HomoloGene: 5362 GeneCards: MECR
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	29,230,942 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	131,595,097 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• oxidoreductase activity; • trans-2-enoyl-CoA reductase (NADPH) activity;
Ćelijska komponenta	• citoplazma; • mitohondrija; • jedro; • mitochondrial matrix;
Biološki proces	• fatty acid biosynthetic process; • lipid metabolism; • fatty acid metabolic process; • fatty acid beta-oxidation;
	Izvori:Amigo / QuickGO
Ortolozi
	51102
	26922
	ENSG00000116353
	ENSMUSG00000028910
	Q9BV79
	Q9DCS3
NM_001024732; NM_016011; NM_001349711; NM_001349712; NM_001349713;
	NM_001349714; NM_001349715; NM_001349716; NM_001349717
	NM_025297
NP_001019903; NP_057095; NP_001336640; NP_001336641; NP_001336642;
	NP_001336643; NP_001336644; NP_001336645; NP_001336646
	NP_079573
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Mitohondrijska trans-2-enoil-CoA reduktaza jest enzim koji je kod ljudi kodiran genom MECR sa hromosoma 1.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 373 aminokiseline, a molekulska težina 40.462 Da.^[8]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MWVCSTLWRV	RTPARQWRGL	LPASGCHGPA	ASSYSASAEP	ARVRALVYGH
HGDPAKVVEL	KNLELAAVRG	SDVRVKMLAA	PINPSDINMI	QGNYGFLPEL
PAVGGNEGVA	QVVAVGSNVT	GLKPGDWVIP	ANAGLGTWRT	EAVFSEEALI
QVPSDIPLQS	AATLGVNPCT	AYRMLMDFEQ	LQPGDSVIQN	ASNSGVGQAV
IQIAAALGLR	TINVVRDRPD	IQKLSDRLKS	LGAEHVITEE	ELRRPEMKNF
FKDMPQPRLA	LNCVGGKSST	ELLRQLARGG	TMVTYGGMAK	QPVVASVSLL
IFKDLKLRGF	WLSQWKKDHS	PDQFKELILT	LCDLIRRGQL	TAPACSQVPL
QDYQSALEAS	MKPFISSKQI	LTM

Struktura

Gen MECR se nalazi na hromosomu 1, a njegova specifična lokacija je 1p35.3.^[7] Gen sadrži 15 egzona.^[7] MECR kodira protein od 21,2 kDa, koji se sastoji od 189 aminokiselina; 10 peptid a je uočeno putem podataka masene spektrometrije.^[9]^[10]

Funkcija

Put mtFAS neophodan je za proizvodnju oktanske kiseline koja se koristi za sintezu lipoinske kiseline, koja je neophodna za aerobni metabolizam. Protein koji kodira MECR je oksidoreduktaza koja katalizira posljednji korak u mtFAS.^[11]

Specifični nokaut Mecr gena Purkinjovih ćelija kod miševa dovodi do neurodegeneracije.^[12]

Klinički značaj

Pretpostavlja se da genetičke mutacije u MECR uzrokuju MEPAN sindrom, neurometabolički poremećaj kod ljudi, koji uključuje poremećaje u putu uključenom u sintezu mitohondrijskih masnih kiselina (mtFAS). Utvrđeno je da pacijenti sa MEPAN-om imaju recesivne mutacije u MECR-u i obično su prisutni s distonijom u djetinjstvu, optičkom atrofijom i abnormalnostima signala baznih ganglija na MRI.^[13]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000116353 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028910 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Masuda N, Yasumo H, Furusawa T, Tsukamoto T, Sadano H, Osumi T (oktobar 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.
^ Miinalainen IJ, Chen ZJ, Torkko JM, Pirilä PL, Sormunen RT, Bergmann U, Qin YM, Hiltunen JK (maj 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.
^ ^a ^b ^c "Entrez Gene: MECR mitochondrial trans-2-enoyl-CoA reductase".
^ "UniProt, Q9BV79" (jezik: eng.). Pristupljeno 30. 11. 2021.CS1 održavanje: nepoznati jezik (link)
^ ]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 (oktobar 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.
^ "Mitochondrial trans-2-enoyl-CoA reductase". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).^{[mrtav link]}
^ Nowinski SM, Van Vranken JG, Dove KK, Rutter J (oktobar 2018). "Impact of Mitochondrial Fatty Acid Synthesis on Mitochondrial Biogenesis". Current Biology. 28 (20): R1212–R1219. doi:10.1016/j.cub.2018.08.022. PMC 6258005. PMID 30352195.
^ Nair RR, Koivisto H, Jokivarsi K, Miinalainen IJ, Autio KJ, Manninen A, et al. (novembar 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. PMC 6595986. PMID 30266742.
^ Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, et al. (decembar 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.

Dopunska literatura

Torkko JM, Koivuranta KT, Miinalainen IJ, Yagi AI, Schmitz W, Kastaniotis AJ, Airenne TT, Gurvitz A, Hiltunen KJ (septembar 2001). "Candida tropicalis Etr1p and Saccharomyces cerevisiae Ybr026p (Mrf1'p), 2-enoyl thioester reductases essential for mitochondrial respiratory competence". Molecular and Cellular Biology. 21 (18): 6243–53. doi:10.1128/MCB.21.18.6243-6253.2001. PMC 87346. PMID 11509667.
Maruyama K, Sugano S (januar 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (oktobar 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (maj 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000116353 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028910 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9795230-5] Masuda N, Yasumo H, Furusawa T, Tsukamoto T, Sadano H, Osumi T (oktobar 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.

[pmid12654921-6] Miinalainen IJ, Chen ZJ, Torkko JM, Pirilä PL, Sormunen RT, Bergmann U, Qin YM, Hiltunen JK (maj 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.

[entrez-7] "Entrez Gene: MECR mitochondrial trans-2-enoyl-CoA reductase".

[UniProt-8] "UniProt, Q9BV79" (jezik: eng.). Pristupljeno 30. 11. 2021.CS1 održavanje: nepoznati jezik (link)

[COPaKB-9] ]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 (oktobar 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.

[url_COPaKB-10] "Mitochondrial trans-2-enoyl-CoA reductase". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).^{[mrtav link]}

[pmid30352195-11] Nowinski SM, Van Vranken JG, Dove KK, Rutter J (oktobar 2018). "Impact of Mitochondrial Fatty Acid Synthesis on Mitochondrial Biogenesis". Current Biology. 28 (20): R1212–R1219. doi:10.1016/j.cub.2018.08.022. PMC 6258005. PMID 30352195.

[pmid30266742-12] Nair RR, Koivisto H, Jokivarsi K, Miinalainen IJ, Autio KJ, Manninen A, et al. (novembar 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. PMC 6595986. PMID 30266742.

[13] Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, et al. (decembar 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.

[5]

[6]

[7]

[1]

[2]

[3]

[4]

[8]

[9]

[10]

[11]

[12]

[13]