LOCUS       NM_001386681            1623 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), transcript
            variant 5, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001386681 XM_024448512
VERSION     NM_001386681.1
KEYWORDS    RefSeq.
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 1623)
  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 1623)
  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 1623)
  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 1623)
  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 1623)
  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 1623)
  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 1623)
  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 1623)
  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 1623)
  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 1623)
  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 AP002433.5.
            
            On Aug 29, 2020 this sequence version replaced XM_024448512.1.
            
            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].
            
            Transcript Variant: This variant (5), as well as variants 6-13,
            encodes isoform e.
            
            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 :: SRR5189667.215145.1,
                                           SRR14038193.2114355.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-198               AP002433.5         101283-101480
            199-246             AP002433.5         116485-116532
            247-364             AP002433.5         118398-118515
            365-460             AP002433.5         118799-118894
            461-561             AP002433.5         119720-119820
            562-705             AP002433.5         123476-123619
            706-856             AP002433.5         124643-124793
            857-952             AP002433.5         126183-126278
            953-1066            AP002433.5         127015-127128
            1067-1131           AP002433.5         128561-128625
            1132-1289           AP002433.5         130780-130937
            1290-1623           AP002433.5         131848-132181
FEATURES             Location/Qualifiers
     source          1..1623
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     gene            1..1623
                     /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..198
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            199..246
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            247..364
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            365..460
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     CDS             397..1410
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /EC_number="2.3.1.9"
                     /note="isoform e is encoded by transcript variant 5;
                     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 e"
                     /protein_id="NP_001373610.1"
                     /db_xref="CCDS:CCDS91581.1"
                     /db_xref="GeneID:38"
                     /db_xref="HGNC:HGNC:93"
                     /db_xref="MIM:607809"
                     /translation="MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIM
                     MASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIH
                     MGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVV
                     KEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTP
                     LARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKM
                     LEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLI
                     QKL"
     exon            461..561
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            562..705
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            706..856
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            857..952
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            953..1066
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1131
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1289
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1290..1623
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1582..1587
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="hexamer: AATAAA"
     polyA_site      1623
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="major polyA site"
ORIGIN      
        1 atagcaagag tggagaaaaa gccacacaca ggggagaaga caggggttgg actgatgcct
       61 ctacaaagcc aggaatacca aggatttcca acaaccacca cgatcttgga gagaggcatg
      121 gaacagactc tccgttagaa cccacagaaa gaaccaatcc tgccaacacc tggatcttgg
      181 actccagcct ccagaactga aataagatat gtggaacgga gttatgtatc aaaacccact
      241 ttgaaggaag tggtcatagt aagtgctaca agaacaccca ttggatcttt tttaggcagc
      301 ctttccttgc tgccagccac taagcttggt tccattgcaa ttcagggagc cattgaaaag
      361 gcagggattc caaaagaaga agtgaaagaa gcatacatgg gtaatgttct acaaggaggt
      421 gaaggacaag ctcctacaag gcaggcagta ttgggtgcag gcttacctat ttctactcca
      481 tgtaccacca taaacaaagt ttgtgcttca ggaatgaaag ccatcatgat ggcctctcaa
      541 agtcttatgt gtggacatca ggatgtgatg gtggcaggtg ggatggagag catgtccaat
      601 gttccatatg taatgaacag aggatcaaca ccatatggtg gggtaaagct tgaagatttg
      661 attgtaaaag acgggctaac tgatgtctac aataaaattc atatgggcag ctgtgctgag
      721 aatacagcaa agaagctgaa tattgcacga aatgaacagg acgcttatgc tattaattct
      781 tataccagaa gtaaagcagc atgggaagct gggaaatttg gaaatgaagt tattcctgtc
      841 acagttacag taaaaggtca accagatgta gtggtgaaag aagatgaaga atataaacgt
      901 gttgatttta gcaaagttcc aaagctgaag acagttttcc agaaagaaaa tggcacagta
      961 acagctgcca atgccagtac actgaatgat ggagcagctg ctctggttct catgacggca
     1021 gatgcagcga agaggctcaa tgttacacca ctggcaagaa tagtagcatt tgctgacgct
     1081 gctgtagaac ctattgattt tccaattgct cctgtatatg ctgcatctat ggttcttaaa
     1141 gatgtgggat tgaaaaaaga agatattgca atgtgggaag taaatgaagc ctttagtctg
     1201 gttgtactag caaacattaa aatgttggag attgatcccc aaaaagtgaa tatcaatgga
     1261 ggagctgttt ctctgggaca tccaattggg atgtctggag ccaggattgt tggtcatttg
     1321 actcatgcct tgaagcaagg agaatacggt cttgccagta tttgcaatgg aggaggaggt
     1381 gcttctgcca tgctaattca gaagctgtag acaacctctg ctatttaagg agacaaccct
     1441 atgtgaccag aaggcctgct gtaatcagtg tgactactgt gggtcagctt atattcagat
     1501 aagctgtttc attttttatt attttctatg ttaactttta aaaatcaaaa tgatgaaatc
     1561 ccaaaacatt ttgaaattaa aaataaattt cttcttctgc ttttttcttg gtaaccttga
     1621 aaa
//
