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Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000019 Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_000019.3, 223890189
Length 2149 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.
Product acetyl-CoA acetyltransferase, mitochondrial precursor
Comment

Summary: This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009].

RefSeq NP_000010.1
CDS 77..1360
Misc Feature(1)194..1357
Misc Feature(2)203..1354
Misc Feature(3)order(257..259,338..340,380..382,389..391,401..403,
Misc Feature(4)order(452..454,1229..1231,1313..1315)
Misc Feature(5)596..598
Misc Feature(6)617..619
Misc Feature(7)827..829
Misc Feature(8)848..856
Misc Feature(9)863..865
Exon (1)1..148
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (2)149..196
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (3)197..314
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (4)315..410
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (5)411..511
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (6)512..655
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (7)656..806
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (8)807..902
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (9)903..1016
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (10)1017..1081
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (11)1082..1239
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Exon (12)1240..2138
Gene:ACAT1
Gene Synonym:ACAT; MAT; T2; THIL
Translation MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLS LLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCT TINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIV KDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTV TVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADA AKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVV LANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGAS AMLIQKL
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Position Chain Variation Link
49+a, tdbSNP:36216231
55+c, gdbSNP:3741054
62+c, gdbSNP:113348145
65..66+, cdbSNP:34512802
65+a, cdbSNP:112219560
68+a, tdbSNP:3741055
78+a, tdbSNP:120074142
89..90+c, gdbSNP:11540420
89+c, gdbSNP:3741056
136+c, gdbSNP:77311724
167+dbSNP:
167+c, tdbSNP:199952982
189+c, tdbSNP:142869776
215+dbSNP:
215+a, gdbSNP:115763401
231+c, tdbSNP:151080188
250+c, gdbSNP:147018814
322+dbSNP:
322+, adbSNP:34607623
354+a, gdbSNP:120074145
359+c, tdbSNP:56061117
419+dbSNP:
419+a, gdbSNP:138104334
509+c, gdbSNP:120074148
525+dbSNP:
525+a, cdbSNP:149522535
547+a, c, gdbSNP:35188041
548+a, gdbSNP:148639841
549+a, gdbSNP:199524907
556+a, gdbSNP:141131039
583+a, tdbSNP:201456540
598+c, gdbSNP:146188525
623+a, gdbSNP:120074141
683+a, cdbSNP:200498630
734+a, gdbSNP:199573646
890+dbSNP:
890+c, tdbSNP:120074144
892+g, tdbSNP:139120939
917+dbSNP:
917+a, gdbSNP:200640435
928+c, tdbSNP:200210306
934+a, gdbSNP:143892373
943+a, cdbSNP:201725995
979+a, gdbSNP:75811190
983+a, tdbSNP:201180840
994+a, tdbSNP:200318899
1011+c, tdbSNP:120074146
1054+dbSNP:
1054+a, cdbSNP:73559264
1055+a, gdbSNP:150038447
1073+c, gdbSNP:120074147
1098+dbSNP:
1098+a, gdbSNP:80154645
1104+a, gdbSNP:149171104
1144+c, tdbSNP:139657823
1212+g, tdbSNP:120074143
1214+a, gdbSNP:120074140
1274+c, tdbSNP:201183545
1285+a, gdbSNP:200729208
1293+a, gdbSNP:147872303
1306+c, tdbSNP:189339614
1355+a, cdbSNP:201500937
1364..1365+, cdbSNP:111390656
1366..1367+, cdbSNP:200756371
1497+a, tdbSNP:192326657
1528..1533+, taaaaadbSNP:201268334
1539+g, tdbSNP:114728153
1563+, adbSNP:11289089
1574+c, gdbSNP:145690535
1603+c, tdbSNP:148934438
1610+c, tdbSNP:79179095
1618+a, gdbSNP:79764488
1653+a, tdbSNP:73559273
1715+c, gdbSNP:114039574
1725+c, tdbSNP:145398051
1867+a, gdbSNP:12271846
1913+a, tdbSNP:183999318
1915+a, gdbSNP:111376037
1959+a, cdbSNP:2280332
1997+a, gdbSNP:116471564
2063+a, tdbSNP:188826374
2067+c, tdbSNP:181581446
2113+c, tdbSNP:186239800
2114+a, gdbSNP:147695530
2137+, aattdbSNP:112801981
Gene SymbolACAT1
Gene SynonymACAT; MAT; T2; THIL
Chromosome11
Locus Map11q22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000019 Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA. On-demand $699.00 18
Title Essential oil of Pinus koraiensis leaves exerts antihyperlipidemic effects via up-regulation of low-density lipoprotein receptor and inhibition of acyl-coenzyme A: cholesterol acyltransferase .
Author Kim,J.H., Lee,H.J., Jeong,S.J., Lee,M.H. and Kim,S.H.
Journal Phytother Res 26 (9), 1314-1319 (2012)
Title Sex-specific association of ACAT-1 rs1044925 SNP and serum lipid levels in the hypercholesterolemic subjects .
Author Wu,D.F., Yin,R.X., Aung,L.H., Li,Q., Yan,T.T., Zeng,X.N., Huang,K.K., Huang,P., Wu,J.Z. and Pan,S.L.
Journal Lipids Health Dis 11, 9 (2012)
Title Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy .
Author Maurer,G.D., Brucker,D.P., Bahr,O., Harter,P.N., Hattingen,E., Walenta,S., Mueller-Klieser,W., Steinbach,J.P. and Rieger,J.
Journal BMC Cancer 11, 315 (2011)
Title [PPARgamma signal transduction pathway in the foam cell formation induced by visfatin] .
Author Kang,J., Cheng,B. and Jiang,L.
Journal Sheng Li Xue Bao 62 (5), 427-432 (2010)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
Journal PLoS ONE 5 (9), E12862 (2010)
Title Molecular basis of 3-ketothiolase deficiency: identification of an .
Author Fukao,T., Yamaguchi,S., Orii,T., Osumi,T. and Hashimoto,T.
Journal Biochim. Biophys. Acta 1139 (3), 184-188 (1992)
Title Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency .
Author Fukao,T., Yamaguchi,S., Orii,T., Schutgens,R.B., Osumi,T. and Hashimoto,T.
Journal J. Clin. Invest. 89 (2), 474-479 (1992)
Title Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme .
Author Masuno,M., Kano,M., Fukao,T., Yamaguchi,S., Osumi,T., Hashimoto,T., Takahashi,E., Hori,T. and Orii,T.
Journal Cytogenet. Cell Genet. 60 (2), 121-122 (1992)
Title Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene .
Author Kano,M., Fukao,T., Yamaguchi,S., Orii,T., Osumi,T. and Hashimoto,T.
Journal Gene 109 (2), 285-290 (1991)
Title Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency .
Author Fukao,T., Yamaguchi,S., Tomatsu,S., Orii,T., Frauendienst-Egger,G., Schrod,L., Osumi,T. and Hashimoto,T.
Journal Biochem. Biophys. Res. Commun. 179 (1), 124-129 (1991)


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