LOCUS       NM_000019               1537 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000019
VERSION     NM_000019.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1537)
  AUTHORS   He,W., Li,Y., Liu,S.B., Chang,Y., Han,S., Han,X., Ma,Z., Amin,H.M.,
            Song,Y.H. and Zhou,J.
  TITLE     From mitochondria to tumor suppression: ACAT1's crucial role in
            gastric cancer
  JOURNAL   Front Immunol 15, 1449525 (2024)
   PUBMED   39247186
  REMARK    GeneRIF: From mitochondria to tumor suppression: ACAT1's crucial
            role in gastric cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1537)
  AUTHORS   Ji,W., Tian,G., Zhang,X., Wang,Y., Yang,Y., Zhou,Z. and Guo,J.
  TITLE     [Clinical analysis and genetic diagnosis of three children with
            Isoleucine metabolic disorders due to variants of HSD17B10 and
            ACAT1 genes]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 41 (5), 540-545 (2024)
   PUBMED   38684297
  REMARK    GeneRIF: [Clinical analysis and genetic diagnosis of three children
            with Isoleucine metabolic disorders due to variants of HSD17B10 and
            ACAT1 genes].
REFERENCE   3  (bases 1 to 1537)
  AUTHORS   Li,J., Li,Y., Sun,X., Wei,L., Guan,J., Fu,L., Du,J., Zhang,X.,
            Cheng,M., Ma,H., Jiang,S., Zheng,Q. and Wang,L.
  TITLE     Silencing lncRNA-DARS-AS1 suppresses nonsmall cell lung cancer
            progression by stimulating miR-302a-3p to inhibit ACAT1 expression
  JOURNAL   Mol Carcinog 63 (4), 757-771 (2024)
   PUBMED   38289172
  REMARK    GeneRIF: Silencing lncRNA-DARS-AS1 suppresses nonsmall cell lung
            cancer progression by stimulating miR-302a-3p to inhibit ACAT1
            expression.
REFERENCE   4  (bases 1 to 1537)
  AUTHORS   Mao,T., Qin,F., Zhang,M., Li,J., Li,J. and Lai,M.
  TITLE     Elevated serum beta-hydroxybutyrate, a circulating ketone
            metabolite, accelerates colorectal cancer proliferation and
            metastasis via ACAT1
  JOURNAL   Oncogene 42 (23), 1889-1899 (2023)
   PUBMED   37185457
  REMARK    GeneRIF: Elevated serum beta-hydroxybutyrate, a circulating ketone
            metabolite, accelerates colorectal cancer proliferation and
            metastasis via ACAT1.
REFERENCE   5  (bases 1 to 1537)
  AUTHORS   Zhang,G., Huang,R., Zhao,H., Xia,Y., Huang,H., Qian,M., Fu,Y. and
            Cui,Y.
  TITLE     ACAT1-mediated METTL3 acetylation inhibits cell migration and
            invasion in triple negative breast cancer
  JOURNAL   Genes Immun 24 (2), 99-107 (2023)
   PUBMED   36890220
  REMARK    GeneRIF: ACAT1-mediated METTL3 acetylation inhibits cell migration
            and invasion in triple negative breast cancer.
REFERENCE   6  (bases 1 to 1537)
  AUTHORS   Fukao,T., Yamaguchi,S., Orii,T., Osumi,T. and Hashimoto,T.
  TITLE     Molecular basis of 3-ketothiolase deficiency: identification of an
            AG to AC substitution at the splice acceptor site of intron 10
            causing exon 11 skipping
  JOURNAL   Biochim Biophys Acta 1139 (3), 184-188 (1992)
   PUBMED   1627655
REFERENCE   7  (bases 1 to 1537)
  AUTHORS   Fukao,T., Yamaguchi,S., Orii,T., Schutgens,R.B., Osumi,T. and
            Hashimoto,T.
  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
  JOURNAL   J Clin Invest 89 (2), 474-479 (1992)
   PUBMED   1346617
REFERENCE   8  (bases 1 to 1537)
  AUTHORS   Masuno,M., Kano,M., Fukao,T., Yamaguchi,S., Osumi,T., Hashimoto,T.,
            Takahashi,E., Hori,T. and Orii,T.
  TITLE     Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme
            A thiolase gene to 11q22.3----q23.1 by fluorescence in situ
            hybridization
  JOURNAL   Cytogenet Cell Genet 60 (2), 121-122 (1992)
   PUBMED   1351831
REFERENCE   9  (bases 1 to 1537)
  AUTHORS   Kano,M., Fukao,T., Yamaguchi,S., Orii,T., Osumi,T. and Hashimoto,T.
  TITLE     Structure and expression of the human mitochondrial acetoacetyl-CoA
            thiolase-encoding gene
  JOURNAL   Gene 109 (2), 285-290 (1991)
   PUBMED   1684944
REFERENCE   10 (bases 1 to 1537)
  AUTHORS   Fukao,T., Yamaguchi,S., Tomatsu,S., Orii,T., Frauendienst-Egger,G.,
            Schrod,L., Osumi,T. and Hashimoto,T.
  TITLE     Evidence for a structural mutation (347Ala to Thr) in a German
            family with 3-ketothiolase deficiency
  JOURNAL   Biochem Biophys Res Commun 179 (1), 124-129 (1991)
   PUBMED   1715688
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D90228.1 and AW081574.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 8, 2019 this sequence version replaced NM_000019.3.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005511.1, D90228.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000265838.9/
                                                  ENSP00000265838.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1482              D90228.1           37-1518
            1483-1537           AW081574.1         9-63                c
FEATURES             Location/Qualifiers
     source          1..1537
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     gene            1..1537
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="acetyl-CoA acetyltransferase 1"
                     /db_xref="GeneID:38"
                     /db_xref="HGNC:HGNC:93"
                     /db_xref="MIM:607809"
     exon            1..112
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1324
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /EC_number="2.3.1.9"
                     /note="isoform b precursor is encoded by transcript
                     variant 2; acetoacetyl Coenzyme A thiolase;
                     acetyl-Coenzyme A acetyltransferase 1; acetyl-CoA
                     acetyltransferase, mitochondrial; mitochondrial
                     acetoacetyl-CoA thiolase; testicular tissue protein Li
                     198"
                     /codon_start=1
                     /product="acetyl-CoA acetyltransferase, mitochondrial
                     isoform b precursor"
                     /protein_id="NP_000010.1"
                     /db_xref="CCDS:CCDS8339.1"
                     /db_xref="GeneID:38"
                     /db_xref="HGNC:HGNC:93"
                     /db_xref="MIM:607809"
                     /translation="MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVI
                     VSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQA
                     PTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVP
                     YVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINS
                     YTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENG
                     TVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAAS
                     MVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGA
                     RIVGHLTHALKQGEYGLASICNGGGGASAMLIQKL"
     exon            113..160
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            161..278
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            279..374
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            375..475
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            476..619
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            620..770
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            771..866
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            867..980
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1045
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1203
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1537
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1496..1501
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="hexamer: AATAAA"
     polyA_site      1537
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="major polyA site"
ORIGIN      
        1 agtctacgcc tgtggagccg atactcagcc ctctgcgacc atggctgtgc tggcggcact
       61 tctgcgcagc ggcgcccgca gccgcagccc cctgctccgg aggctggtgc aggaaataag
      121 atatgtggaa cggagttatg tatcaaaacc cactttgaag gaagtggtca tagtaagtgc
      181 tacaagaaca cccattggat cttttttagg cagcctttcc ttgctgccag ccactaagct
      241 tggttccatt gcaattcagg gagccattga aaaggcaggg attccaaaag aagaagtgaa
      301 agaagcatac atgggtaatg ttctacaagg aggtgaagga caagctccta caaggcaggc
      361 agtattgggt gcaggcttac ctatttctac tccatgtacc accataaaca aagtttgtgc
      421 ttcaggaatg aaagccatca tgatggcctc tcaaagtctt atgtgtggac atcaggatgt
      481 gatggtggca ggtgggatgg agagcatgtc caatgttcca tatgtaatga acagaggatc
      541 aacaccatat ggtggggtaa agcttgaaga tttgattgta aaagacgggc taactgatgt
      601 ctacaataaa attcatatgg gcagctgtgc tgagaataca gcaaagaagc tgaatattgc
      661 acgaaatgaa caggacgctt atgctattaa ttcttatacc agaagtaaag cagcatggga
      721 agctgggaaa tttggaaatg aagttattcc tgtcacagtt acagtaaaag gtcaaccaga
      781 tgtagtggtg aaagaagatg aagaatataa acgtgttgat tttagcaaag ttccaaagct
      841 gaagacagtt ttccagaaag aaaatggcac agtaacagct gccaatgcca gtacactgaa
      901 tgatggagca gctgctctgg ttctcatgac ggcagatgca gcgaagaggc tcaatgttac
      961 accactggca agaatagtag catttgctga cgctgctgta gaacctattg attttccaat
     1021 tgctcctgta tatgctgcat ctatggttct taaagatgtg ggattgaaaa aagaagatat
     1081 tgcaatgtgg gaagtaaatg aagcctttag tctggttgta ctagcaaaca ttaaaatgtt
     1141 ggagattgat ccccaaaaag tgaatatcaa tggaggagct gtttctctgg gacatccaat
     1201 tgggatgtct ggagccagga ttgttggtca tttgactcat gccttgaagc aaggagaata
     1261 cggtcttgcc agtatttgca atggaggagg aggtgcttct gccatgctaa ttcagaagct
     1321 gtagacaacc tctgctattt aaggagacaa ccctatgtga ccagaaggcc tgctgtaatc
     1381 agtgtgacta ctgtgggtca gcttatattc agataagctg tttcattttt tattattttc
     1441 tatgttaact tttaaaaatc aaaatgatga aatcccaaaa cattttgaaa ttaaaaataa
     1501 atttcttctt ctgctttttt cttggtaacc ttgaaaa
//
