MCAT
Mitohondrijski malonil CoA-acil proteinski nosač transacilaze jest enzim koji je kod ljudi kodiran genom MCAT sa hromosoma 22.[5][6]
Aminokiselinska sekvenca[uredi | uredi izvor]
Dužina polipeptidnog lanca je 390 aminokiselina, a molekulska težina 42.962 Da.[6]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MSVRVARVAW | VRGLGASYRR | GASSFPVPPP | GAQGVAELLR | DATGAEEEAP | ||||
| WAATERRMPG | QCSVLLFPGQ | GSQVVGMGRG | LLNYPRVREL | YAAARRVLGY | ||||
| DLLELSLHGP | QETLDRTVHC | QPAIFVASLA | AVEKLHHLQP | SVIENCVAAA | ||||
| GFSVGEFAAL | VFAGAMEFAE | GLYAVKIRAE | AMQEASEAVP | SGMLSVLGQP | ||||
| QSKFNFACLE | AREHCKSLGI | ENPVCEVSNY | LFPDCRVISG | HQEALRFLQK | ||||
| NSSKFHFRRT | RMLPVSGAFH | TRLMEPAVEP | LTQALKAVDI | KKPLVSVYSN | ||||
| VHAHRYRHPG | HIHKLLAQQL | VSPVKWEQTM | HAIYERKKGR | GFPQTFEVGP | ||||
| GRQLGAILKS | CNMQAWKSYS | AVDVLQTLEH | VDLDPQEPPR |
Funkcija[uredi | uredi izvor]
Protein koji je kodiran ovim genom nalazi se isključivo u mitohondrijama, gdje katalizuje prijenos malonil grupe sa malonil-CoA na mitohondrijski acil proteinski nosač. Kodirani protein može biti dio kompleksa sintaza masnih kiselina koji je više nalik na komplekse prokariota i plastida tipa II, a ne na ljudskom citosolnom kompleks tipa I. Za ovaj gen su pronađene dvije varijante transkripta koje kodiraju različite izoforme.[6]
Klinički značaj[uredi | uredi izvor]
Pokazalo se da enzim kodiran genom MCAT, zajedno sa drugim enzimima koji regulišu koncentraciju Malonyl-CoA, podešava nivoe tako da se koncentracija malonil-CoA smanjuje u ljudskom mišićnom tkivu pod opterećenjem. Ovaj enzim posebno ima povećanu aktivnost u ovim uslovima, jer je poznato da katabolizira malonil-CoA.[7]
Interakcije[uredi | uredi izvor]
Ljudski CoA-acela proteinski nosač transacilaza u mitohondrijama povezuje se s respiratornim kompleksom, tako da funkcionalno djeluje s mitohondrijskom maloniltransferazom. Obje su kodirane jedarnim genima, a njihova translokacija u mitohondrije ovisi o prisutnosti N-terminalne ciljne sekvence.[5]
Reference[uredi | uredi izvor]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000100294 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048755 - 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.
- ^ a b Zhang L, Joshi AK, Smith S (Oct 2003). "Cloning, expression, characterization, and interaction of two components of a human mitochondrial fatty acid synthase. Malonyltransferase and acyl carrier protein". The Journal of Biological Chemistry. 278 (41): 40067–74. doi:10.1074/jbc.M306121200. PMID 12882974.
- ^ a b c "Entrez Gene: MCAT malonyl CoA:ACP acyltransferase (mitochondrial)".
- ^ Kuhl JE, Ruderman NB, Musi N, Goodyear LJ, Patti ME, Crunkhorn S, Dronamraju D, Thorell A, Nygren J, Ljungkvist O, Degerblad M, Stahle A, Brismar TB, Andersen KL, Saha AK, Efendic S, Bavenholm PN (Jun 2006). "Exercise training decreases the concentration of malonyl-CoA and increases the expression and activity of malonyl-CoA decarboxylase in human muscle". American Journal of Physiology. Endocrinology and Metabolism. 290 (6): E1296-303. doi:10.1152/ajpendo.00341.2005. PMID 16434556.
Dopunska literatura[uredi | uredi izvor]
- Ma J, Dempsey AA, Stamatiou D, Marshall KW, Liew CC (Mar 2007). "Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects". Atherosclerosis. 191 (1): 63–72. doi:10.1016/j.atherosclerosis.2006.05.032. PMID 16806233.
- Kuhl JE, Ruderman NB, Musi N, Goodyear LJ, Patti ME, Crunkhorn S, Dronamraju D, Thorell A, Nygren J, Ljungkvist O, Degerblad M, Stahle A, Brismar TB, Andersen KL, Saha AK, Efendic S, Bavenholm PN (Jun 2006). "Exercise training decreases the concentration of malonyl-CoA and increases the expression and activity of malonyl-CoA decarboxylase in human muscle". American Journal of Physiology. Endocrinology and Metabolism. 290 (6): E1296–303. doi:10.1152/ajpendo.00341.2005. PMID 16434556.
- 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 (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Collins JE, Goward ME, Cole CG, Smink LJ, Huckle EJ, Knowles S, Bye JM, Beare DM, Dunham I (Jan 2003). "Reevaluating human gene annotation: a second-generation analysis of chromosome 22". Genome Research. 13 (1): 27–36. doi:10.1101/gr.695703. PMC 430954. PMID 12529303.
- Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP (Dec 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.