Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.
| RefSeq Version | NM_000019.3, 223890189 |
| Length | 2149 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| 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]. |
| RefSeq | NP_000010.1 |
| CDS | 77..1360 | Exon (1) | 1..148 | Exon (2) | 1..148 | Exon (3) | 149..196 | Exon (4) | 197..314 | Exon (5) | 315..410 | Exon (6) | 411..511 | Exon (7) | 512..655 | Exon (8) | 656..806 | Exon (9) | 807..902 | Exon (10) | 903..1016 | Exon (11) | 1017..1081 | Exon (12) | 1082..1239 | Exon (13) | 1240..2138 |
| Translation | MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLS
LLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCT
TINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIV
KDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTV
TVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADA
AKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVV
LANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGAS
AMLIQKL
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| Position | Chain | Variation | Link |
| 49 | + | a, t | dbSNP:36216231 |
| 55 | + | c, g | dbSNP:3741054 |
| 62 | + | c, g | dbSNP:113348145 |
| 65 | + | a, c | dbSNP:112219560 |
| 68..69 | + | , c | dbSNP:34512802 |
| 68 | + | a, t | dbSNP:3741055 |
| 78 | + | a, t | dbSNP:120074142 |
| 89..90 | + | c, g | dbSNP:11540420 |
| 89 | + | c, g | dbSNP:3741056 |
| 136 | + | c, g | dbSNP:77311724 |
| 215 | + | a, g | dbSNP:115763401 |
| 322 | + | , a | dbSNP:34607623 |
| 354 | + | a, g | dbSNP:120074145 |
| 359 | + | c, t | dbSNP:56061117 |
| 509 | + | c, g | dbSNP:120074148 |
| 547 | + | a, c, g | dbSNP:35188041 |
| 623 | + | a, g | dbSNP:120074141 |
| 890 | + | c, t | dbSNP:120074144 |
| 928 | + | c, t | dbSNP:117422755 |
| 979 | + | a, g | dbSNP:75811190 |
| 1011 | + | c, t | dbSNP:120074146 |
| 1054 | + | a, c | dbSNP:73559264 |
| 1073 | + | c, g | dbSNP:120074147 |
| 1098 | + | a, g | dbSNP:80154645 |
| 1212 | + | g, t | dbSNP:120074143 |
| 1214 | + | a, g | dbSNP:120074140 |
| 1364..1365 | + | , c | dbSNP:111390656 |
| 1539 | + | g, t | dbSNP:114728153 |
| 1564 | + | , a | dbSNP:11289089 |
| 1610 | + | c, t | dbSNP:79179095 |
| 1618 | + | a, g | dbSNP:79764488 |
| 1653 | + | a, t | dbSNP:73559273 |
| 1715 | + | c, g | dbSNP:114039574 |
| 1867 | + | a, g | dbSNP:12271846 |
| 1913 | + | a, t | dbSNP:74972831 |
| 1915 | + | a, g | dbSNP:111376037 |
| 1959 | + | a, c | dbSNP:2280332 |
| 1997 | + | a, g | dbSNP:116471564 |
| 2063 | + | a, t | dbSNP:115796924 |
| 2137 | + | , aatt | dbSNP:112801981 |
| Gene Symbol | ACAT1 |
| Gene Synonym | ACAT; MAT; T2; THIL |
| Chromosome | 11 |
| Locus Map | 11q22.3 |
| All Transcripts | NM_000019 |
| Title | A selective ACAT-1 inhibitor, K-604, stimulates collagen production in cultured smooth muscle cells and alters plaque phenotype in apolipoprotein E-knockout mice . |
| Author | Yoshinaka,Y., Shibata,H., Kobayashi,H., Kuriyama,H., Shibuya,K., Tanabe,S., Watanabe,T. and Miyazaki,A. |
| Journal | Atherosclerosis 213 (1), 85-91 (2010) |
| Title | Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? . |
| Author | Ruano,G., Thompson,P.D., Kane,J.P., Pullinger,C.R., Windemuth,A., Seip,R.L., Kocherla,M., Holford,T.R. and Wu,A.H. |
| Journal | Pharmacogenomics 11 (7), 959-971 (2010) |
| Title | Cholesterol loading in macrophages stimulates formation of ER-derived vesicles with elevated ACAT1 activity . |
| Author | Sakashita,N., Chang,C.C., Lei,X., Fujiwara,Y., Takeya,M. and Chang,T.Y. |
| Journal | J. Lipid Res. 51 (6), 1263-1272 (2010) |
| Title | Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk . |
| Author | Reynolds,C.A., Hong,M.G., Eriksson,U.K., Blennow,K., Wiklund,F., Johansson,B., Malmberg,B., Berg,S., Alexeyenko,A., Gronberg,H., Gatz,M., Pedersen,N.L. and Prince,J.A. |
| Journal | Hum. Mol. Genet. 19 (10), 2068-2078 (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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