LOCUS       NM_005891               1520 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens acetyl-CoA acetyltransferase 2 (ACAT2), transcript
            variant 1, mRNA.
ACCESSION   NM_005891
VERSION     NM_005891.3
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 1520)
  AUTHORS   Wang,Z., Cao,Z. and Dai,Z.
  TITLE     ACAT2 may be a novel predictive biomarker and therapeutic target in
            lung adenocarcinoma
  JOURNAL   Cancer Rep (Hoboken) 7 (2), e1956 (2024)
   PUBMED   38213102
REFERENCE   2  (bases 1 to 1520)
  AUTHORS   Cheng,L., Cao,H., Xu,J., Xu,M., He,W., Zhang,W., Dong,L. and
            Chen,D.
  TITLE     Circ_RPL23A acts as a miR-1233 sponge to suppress the progression
            of clear cell renal cell carcinoma by promoting ACAT2
  JOURNAL   J Bioenerg Biomembr 53 (4), 415-428 (2021)
   PUBMED   34036483
  REMARK    GeneRIF: Circ_RPL23A acts as a miR-1233 sponge to suppress the
            progression of clear cell renal cell carcinoma by promoting ACAT2.
REFERENCE   3  (bases 1 to 1520)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1520)
  AUTHORS   Wang,Y.T., Maitusong,B., Ma,Y.T., Fu,Z.Y., Yang,Y.N., Ma,X.,
            Li,X.M., Liu,F. and Chen,B.D.
  TITLE     Acyl-CoA: cholesterol acyltransferases-2 gene polymorphism is
            associated with increased susceptibility to coronary artery disease
            in Uygur population in Xinjiang, China
  JOURNAL   Biosci Rep 39 (2) (2019)
   PUBMED   30696703
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1520)
  AUTHORS   Guo,D., Lu,M., Hu,X., Xu,J., Hu,G., Zhu,M., Zhang,X., Li,Q.,
            Chang,C.C., Chang,T., Song,B., Xiong,Y. and Li,B.
  TITLE     Low-level expression of human ACAT2 gene in monocytic cells is
            regulated by the C/EBP transcription factors
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 48 (11), 980-989 (2016)
   PUBMED   27688151
  REMARK    GeneRIF: results demonstrate that the low-level expression of human
            ACAT2 gene with specific CpG-hypomethylated promoter is regulated
            by the C/EBP transcription factors in monocytic cells, and imply
            that the lowly expressed ACAT2 catalyzes the synthesis of certain
            CE/SE that are assembled into lipoproteins for the secretion
REFERENCE   6  (bases 1 to 1520)
  AUTHORS   McCarthy,J.J., Meyer,J., Moliterno,D.J., Newby,L.K., Rogers,W.J.
            and Topol,E.J.
  CONSRTM   GenQuest multicenter study
  TITLE     Evidence for substantial effect modification by gender in a
            large-scale genetic association study of the metabolic syndrome
            among coronary heart disease patients
  JOURNAL   Hum Genet 114 (1), 87-98 (2003)
   PUBMED   14557872
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1520)
  AUTHORS   Masuno,M., Fukao,T., Song,X.Q., Yamaguchi,S., Orii,T., Kondo,N.,
            Imaizumi,K. and Kuroki,Y.
  TITLE     Assignment of the human cytosolic acetoacetyl-coenzyme A thiolase
            (ACAT2) gene to chromosome 6q25.3-q26
  JOURNAL   Genomics 36 (1), 217-218 (1996)
   PUBMED   8812443
REFERENCE   8  (bases 1 to 1520)
  AUTHORS   Song,X.Q., Fukao,T., Yamaguchi,S., Miyazawa,S., Hashimoto,T. and
            Orii,T.
  TITLE     Molecular cloning and nucleotide sequence of complementary DNA for
            human hepatic cytosolic acetoacetyl-coenzyme A thiolase
  JOURNAL   Biochem Biophys Res Commun 201 (1), 478-485 (1994)
   PUBMED   7911016
REFERENCE   9  (bases 1 to 1520)
  AUTHORS   Morel,Y., Bristow,J., Gitelman,S.E. and Miller,W.L.
  TITLE     Transcript encoded on the opposite strand of the human steroid
            21-hydroxylase/complement component C4 gene locus
  JOURNAL   Proc Natl Acad Sci U S A 86 (17), 6582-6586 (1989)
   PUBMED   2475872
REFERENCE   10 (bases 1 to 1520)
  AUTHORS   Bennett,M.J., Hosking,G.P., Smith,M.F., Gray,R.G. and Middleton,B.
  TITLE     Biochemical investigations on a patient with a defect in cytosolic
            acetoacetyl-CoA thiolase, associated with mental retardation
  JOURNAL   J Inherit Metab Dis 7 (3), 125-128 (1984)
   PUBMED   6150136
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP210609.1, AF356877.1,
            BM997310.1 and AL135914.25.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005891.2.
            
            Summary: The product of this gene is an enzyme involved in lipid
            metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This
            gene shows complementary overlapping with the 3-prime region of the
            TCP1 gene in both mouse and human. These genes are encoded on
            opposite strands of DNA, as well as in opposite transcriptional
            orientation. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Dec 2014].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the shorter isoform (1).
            
            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 :: SRR7410570.267313.1,
                                           SRR1803615.47245.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367048.5/ ENSP00000356015.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-497               BP210609.1         89-585
            498-1165            AF356877.1         509-1176
            1166-1463           BM997310.1         17-314              c
            1464-1520           AL135914.25        150739-150795
FEATURES             Location/Qualifiers
     source          1..1520
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.3"
     gene            1..1520
                     /gene="ACAT2"
                     /note="acetyl-CoA acetyltransferase 2"
                     /db_xref="GeneID:39"
                     /db_xref="HGNC:HGNC:94"
                     /db_xref="MIM:100678"
     exon            1..98
                     /gene="ACAT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             44..1237
                     /gene="ACAT2"
                     /EC_number="2.3.1.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     acetoacetyl Coenzyme A thiolase; cytosolic acetoacetyl-CoA
                     thiolase; acetyl-CoA transferase-like protein"
                     /codon_start=1
                     /product="acetyl-CoA acetyltransferase, cytosolic isoform
                     1"
                     /protein_id="NP_005882.2"
                     /db_xref="CCDS:CCDS5268.1"
                     /db_xref="GeneID:39"
                     /db_xref="HGNC:HGNC:94"
                     /db_xref="MIM:100678"
                     /translation="MNAGSDPVVIVSAARTIIGSFNGALAAVPVQDLGSTVIKEVLKR
                     ATVAPEDVSEVIFGHVLAAGCGQNPVRQASVGAGIPYSVPAWSCQMICGSGLKAVCLA
                     VQSIGIGDSSIVVAGGMENMSKAPHLAYLRTGVKIGEMPLTDSILCDGLTDAFHNCHM
                     GITAENVAKKWQVSREDQDKVAVLSQNRTENAQKAGHFDKEIVPVLVSTRKGLIEVKT
                     DEFPRHGSNIEAMSKLKPYFLTDGTGTVTPANASGINDGAAAVVLMKKSEADKRGLTP
                     LARIVSWSQVGVEPSIMGIGPIPAIKQAVTKAGWSLEDVDIFEINEAFAAVSAAIVKE
                     LGLNPEKVNIEGGAIALGHPLGASGCRILVTLLHTLERMGRSRGVAALCIGGGMGIAM
                     CVQRE"
     exon            99..233
                     /gene="ACAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            234..415
                     /gene="ACAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            416..533
                     /gene="ACAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            534..677
                     /gene="ACAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            678..800
                     /gene="ACAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            801..955
                     /gene="ACAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1066
                     /gene="ACAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1520
                     /gene="ACAT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1278..1283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAT2"
                     /note="hexamer: AATAAA"
     polyA_site      1306
                     /gene="ACAT2"
     regulatory      1435..1440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAT2"
                     /note="hexamer: AATAAA"
     polyA_site      1459
                     /gene="ACAT2"
                     /note="major polyA site"
     polyA_site      1483
                     /gene="ACAT2"
ORIGIN      
        1 agcttgcagg cagcgcaggg cagacggcgg caggagaagc aagatgaatg caggctcaga
       61 tcctgtggtc atcgtctcgg cggcgcggac catcataggt tccttcaatg gtgccttagc
      121 tgctgttcct gtccaggacc tgggctccac tgtcatcaaa gaagtcttga agagggccac
      181 tgtggctccg gaagatgtgt ctgaggtcat ctttggacat gtcttggcag caggctgtgg
      241 gcagaatcct gttagacaag ccagtgtggg tgcaggaatt ccctactctg ttccagcatg
      301 gagctgccag atgatctgtg ggtcaggcct aaaagctgtg tgccttgcag tccagtcaat
      361 agggatagga gactccagca ttgtggttgc aggaggcatg gaaaatatga gcaaggctcc
      421 tcacttggct tacttgagaa caggagtaaa gataggtgag atgccactga ctgacagtat
      481 actctgtgat ggtcttacag atgcatttca caactgtcat atgggtatta cagctgaaaa
      541 tgtagccaaa aaatggcaag tgagtagaga agatcaggac aaggttgcag ttctgtccca
      601 gaacaggaca gagaatgcac agaaagctgg ccattttgac aaagagattg taccagtttt
      661 ggtgtcaact agaaaaggtc ttattgaagt taaaacagat gagtttcctc gccatgggag
      721 caacatagaa gccatgtcca agctaaagcc ttactttctt actgatggaa cgggaacagt
      781 caccccagcc aatgcttcag gaataaatga tggtgctgca gctgtcgttc ttatgaagaa
      841 gtcagaagct gataaacgtg ggcttacacc tttagcacgg atagtttcct ggtcccaagt
      901 gggtgtggag ccttccatta tgggaatagg accaattcca gccataaagc aagctgttac
      961 aaaagcaggt tggtcactgg aagatgttga catatttgaa atcaatgaag cctttgcagc
     1021 tgtctctgct gcaatagtta aagaacttgg attaaaccca gagaaggtca atattgaagg
     1081 aggggctata gccttgggcc accctcttgg agcatctggc tgtcgaattc ttgtgaccct
     1141 gttacacaca ctggagagaa tgggcagaag tcgtggtgtt gcagccctgt gcattggggg
     1201 tgggatggga atagcaatgt gtgttcagag agaatgaatt gcttaaactt tgaacaacct
     1261 caatttcttt ttaaactaat aaagtactag gttgcaatat gtgaaatcag aggaccaaag
     1321 tacagatgga aaccatttcc tacatcacaa aaacccaagt ttacagcttg tactttactt
     1381 taatgtgtaa tactcaactc aaggtacaag acaattgcat ttaacattgt tataaataaa
     1441 aggaacatca gatcaatcat taagggctcc agagtgaaca gcatcttcat aacttccatg
     1501 tttatcatct ttactttctg
//
