MCAT

MCAT
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2C2N
Identifikatori
Aliasi	MCAT
Vanjski ID-jevi	OMIM: 614479 MGI: 2388651 HomoloGene: 15511 GeneCards: MCAT
Lokacija gena (čovjek)
Hrom.	Hromosom 22 (čovjek)
Kraj	43,143,398 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	83,447,988 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • catalytic activity; • [acyl-carrier-protein S-malonyltransferase activity]; • vezivanje sa RNK; • fatty acid synthase activity; • S-malonyltransferase activity;
Ćelijska komponenta	• mitohondrija; • mitochondrial matrix;
Biološki proces	• metabolizam; • fatty acid biosynthetic process; • fatty acid metabolic process; • lipid metabolism; • fatty acid beta-oxidation;
	Izvori:Amigo / QuickGO
Ortolozi
	27349
	223722
	ENSG00000100294
	ENSMUSG00000048755
	Q8IVS2
	Q8R3F5
	NM_014507; NM_173467
	NM_001030014
	NP_055322; NP_775738
	NP_001025185
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Mitohondrijski malonil CoA-acil proteinski nosač transacilaze jest enzim koji je kod ljudi kodiran genom MCAT sa hromosoma 22.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 390 aminokiselina, a molekulska težina 42.962 Da.^[6]

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
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

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

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

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

^ ^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

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.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100294 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000048755 - 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.

[pmid12882974-5] 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.

[entrez-6] "Entrez Gene: MCAT malonyl CoA:ACP acyltransferase (mitochondrial)".

[7] 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.

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