LOCUS       NM_001607               1699 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), transcript
            variant 1, mRNA.
ACCESSION   NM_001607
VERSION     NM_001607.4
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 1699)
  AUTHORS   Zhang,J., Yu,C.W., Wang,M., Wan,K.X., Yang,J., Yuan,Z.J., Liao,Z.H.
            and Wang,D.J.
  TITLE     [Clinical phenotypic and genotypic analysis of 5 pediatric patients
            with beta-ketothiolase deficiency]
  JOURNAL   Zhonghua Er Ke Za Zhi 62 (1), 66-70 (2024)
   PUBMED   38154980
  REMARK    GeneRIF: [Clinical phenotypic and genotypic analysis of 5 pediatric
            patients with beta-ketothiolase deficiency].
REFERENCE   2  (bases 1 to 1699)
  AUTHORS   Peng,W.T., Jin,X., Xu,X.E., Yang,Y.S., Ma,D., Shao,Z.M. and
            Jiang,Y.Z.
  TITLE     Inhibition of ACAA1 Restrains Proliferation and Potentiates the
            Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer
  JOURNAL   Cancer Res 83 (10), 1711-1724 (2023)
   PUBMED   37129951
  REMARK    GeneRIF: Inhibition of ACAA1 Restrains Proliferation and
            Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative
            Breast Cancer.
REFERENCE   3  (bases 1 to 1699)
  AUTHORS   Luo,R., Fan,Y., Yang,J., Ye,M., Zhang,D.F., Guo,K., Li,X., Bi,R.,
            Xu,M., Yang,L.X., Li,Y., Ran,X., Jiang,H.Y., Zhang,C., Tan,L.,
            Sheng,N. and Yao,Y.G.
  TITLE     A novel missense variant in ACAA1 contributes to early-onset
            Alzheimer's disease, impairs lysosomal function, and facilitates
            amyloid-beta pathology and cognitive decline
  JOURNAL   Signal Transduct Target Ther 6 (1), 325 (2021)
   PUBMED   34465723
  REMARK    GeneRIF: A novel missense variant in ACAA1 contributes to
            early-onset Alzheimer's disease, impairs lysosomal function, and
            facilitates amyloid-beta pathology and cognitive decline.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1699)
  AUTHORS   Kunze,M., Malkani,N., Maurer-Stroh,S., Wiesinger,C., Schmid,J.A.
            and Berger,J.
  TITLE     Mechanistic insights into PTS2-mediated peroxisomal protein import:
            the co-receptor PEX5L drastically increases the interaction
            strength between the cargo protein and the receptor PEX7
  JOURNAL   J Biol Chem 290 (8), 4928-4940 (2015)
   PUBMED   25538232
REFERENCE   5  (bases 1 to 1699)
  AUTHORS   Sordillo,J.E., Sharma,S., Poon,A., Lasky-Su,J., Belanger,K.,
            Milton,D.K., Bracken,M.B., Triche,E.W., Leaderer,B.P., Gold,D.R.
            and Litonjua,A.A.
  TITLE     Effects of endotoxin exposure on childhood asthma risk are modified
            by a genetic polymorphism in ACAA1
  JOURNAL   BMC Med Genet 12, 158 (2011)
   PUBMED   22151743
  REMARK    GeneRIF: Findings suggest that protective effects of endotoxin
            exposure on asthma may vary depending upon the presence or absence
            of a polymorphism in ACAA1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1699)
  AUTHORS   Heikoop,J.C., Ossendorp,B.C., Wanders,R.J., Wirtz,K.W. and
            Tager,J.M.
  TITLE     Subcellular localisation and processing of non-specific lipid
            transfer protein are not aberrant in Rhizomelic Chondrodysplasia
            Punctata fibroblasts
  JOURNAL   FEBS Lett 299 (2), 201-204 (1992)
   PUBMED   1347505
REFERENCE   7  (bases 1 to 1699)
  AUTHORS   Bout,A., Franse,M.M., Collins,J., Blonden,L., Tager,J.M. and
            Benne,R.
  TITLE     Characterization of the gene encoding human peroxisomal
            3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a
            thiolase-deficient patient
  JOURNAL   Biochim Biophys Acta 1090 (1), 43-51 (1991)
   PUBMED   1679347
REFERENCE   8  (bases 1 to 1699)
  AUTHORS   Heikoop,J.C., van Roermund,C.W., Just,W.W., Ofman,R.,
            Schutgens,R.B., Heymans,H.S., Wanders,R.J. and Tager,J.M.
  TITLE     Rhizomelic chondrodysplasia punctata. Deficiency of
            3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired
            processing of the enzyme
  JOURNAL   J Clin Invest 86 (1), 126-130 (1990)
   PUBMED   2365812
REFERENCE   9  (bases 1 to 1699)
  AUTHORS   Clayton,P.T., Patel,E., Lawson,A.M., Carruthers,R.A. and Collins,J.
  TITLE     Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase
            deficiency
  JOURNAL   J Clin Invest 85 (4), 1267-1273 (1990)
   PUBMED   2318981
REFERENCE   10 (bases 1 to 1699)
  AUTHORS   Bout,A., Hoovers,J.M., Bakker,E., Mannens,M.M., Geurts van
            Kessel,A., Westerveld,A., Tager,J.M. and Benne,R.
  TITLE     Assignment of the gene coding for human peroxisomal 3-oxoacyl-CoA
            thiolase (ACAA) to chromosome region 3p22----p23
  JOURNAL   Cytogenet Cell Genet 52 (3-4), 147-150 (1989)
   PUBMED   2630187
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC312566.1 and BC011977.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001607.3.
            
            Summary: This gene encodes an enzyme operative in the
            beta-oxidation system of the peroxisomes. Deficiency of this enzyme
            leads to pseudo-Zellweger syndrome. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: BC000635.2, SRR3476690.511316.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000333167.13/
                                                  ENSP00000333664.8
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                DC312566.1         34-83
            51-1699             BC011977.1         1-1649
FEATURES             Location/Qualifiers
     source          1..1699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     gene            1..1699
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /note="acetyl-CoA acyltransferase 1"
                     /db_xref="GeneID:30"
                     /db_xref="HGNC:HGNC:82"
                     /db_xref="MIM:604054"
     exon            1..263
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..1367
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /EC_number="2.3.1.9"
                     /EC_number="2.3.1.16"
                     /EC_number="2.3.1.155"
                     /note="isoform a is encoded by transcript variant 1;
                     peroxisomal 3-oxoacyl-Coenzyme A thiolase; acetyl-Coenzyme
                     A acyltransferase 1; epididymis secretory sperm binding
                     protein; 3-ketoacyl-CoA thiolase, peroxisomal;
                     beta-ketothiolase; peroxisomal 3-oxoacyl-CoA thiolase;
                     testicular tissue protein Li 197; acetyl-CoA
                     C-myristoyltransferase"
                     /codon_start=1
                     /product="3-ketoacyl-CoA thiolase, peroxisomal isoform a"
                     /protein_id="NP_001598.1"
                     /db_xref="CCDS:CCDS2673.1"
                     /db_xref="GeneID:30"
                     /db_xref="HGNC:HGNC:82"
                     /db_xref="MIM:604054"
                     /translation="MQRLQVVLGHLRGPADSGWMPQAAPCLSGAPQASAADVVVVHGR
                     RTAICRAGRGGFKDTTPDELLSAVMTAVLKDVNLRPEQLGDICVGNVLQPGAGAIMAR
                     IAQFLSDIPETVPLSTVNRQCSSGLQAVASIAGGIRNGSYDIGMACGVESMSLADRGN
                     PGNITSRLMEKEKARDCLIPMGITSENVAERFGISREKQDTFALASQQKAARAQSKGC
                     FQAEIVPVTTTVHDDKGTKRSITVTQDEGIRPSTTMEGLAKLKPAFKKDGSTTAGNSS
                     QVSDGAAAILLARRSKAEELGLPILGVLRSYAVVGVPPDIMGIGPAYAIPVALQKAGL
                     TVSDVDIFEINEAFASQAAYCVEKLRLPPEKVNPLGGAVALGHPLGCTGARQVITLLN
                     ELKRRGKRAYGVVSMCIGTGMGAAAVFEYPGN"
     exon            264..357
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     exon            358..415
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     exon            416..495
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     exon            496..538
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     exon            539..637
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     exon            638..718
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     exon            719..909
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1089
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1145
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..1291
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1699
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1680..1685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /note="hexamer: AGTAAA"
     polyA_site      1699
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /note="major polyA site"
ORIGIN      
        1 gagatgtggt tctgcgcgtg tgcggacggc tgtctgttaa ctccgcggtc agttcccgga
       61 ctggtggctg gtctgcaggg ttgacctgcg caatgcagag gctgcaggta gtgctgggcc
      121 acctgagggg tccggccgat tccggctgga tgccgcaggc cgcgccttgc ctgagcggtg
      181 ccccgcaggc ctcggccgcg gacgtggtgg tggtgcacgg gcggcgcacg gccatctgcc
      241 gggcgggccg cggcggcttc aaggacacca cccccgacga gcttctctcg gcagtcatga
      301 ccgcggttct caaggacgtg aatctgaggc cggaacagct gggggacatc tgtgtcggaa
      361 atgtgctgca gcctggggcc ggggcaatca tggcccgaat cgcccagttt ctgagtgaca
      421 tcccggagac tgtgcctttg tccactgtca atagacagtg ttcgtcgggg ctacaggcag
      481 tggccagcat agcaggtggc atcagaaatg ggtcttatga cattggcatg gcctgtgggg
      541 tggagtccat gtccctggct gacagaggga accctggaaa tattacttcg cgcttgatgg
      601 agaaggagaa ggccagagat tgcctgattc ctatggggat aacctctgag aatgtggctg
      661 agcggtttgg catttcacgg gagaagcagg atacctttgc cctggcttcc cagcagaagg
      721 cagcaagagc ccagagcaag ggctgtttcc aagctgagat tgtgcctgtg accaccacgg
      781 tccatgatga caagggcacc aagaggagca tcactgtgac ccaggatgag ggtatccgcc
      841 ccagcaccac catggagggc ctggccaaac tgaagcctgc cttcaagaaa gatggttcta
      901 ccacagctgg aaactctagc caggtgagtg atggggcagc tgccatcctg ctggcccgga
      961 ggtccaaggc agaagagttg ggccttccca tccttggggt cctgaggtct tatgcagtgg
     1021 ttggggtccc acctgacatc atgggcattg gacctgccta tgccatccca gtagctttgc
     1081 aaaaagcagg gctgacagtg agtgacgtgg acatcttcga gatcaatgag gcctttgcaa
     1141 gccaggctgc ctactgtgtg gagaagctac gactcccccc tgagaaggtg aaccccctgg
     1201 ggggtgcagt ggccttaggg cacccactgg gctgcactgg ggcacgacag gtcatcacgc
     1261 tgctcaatga gctgaagcgc cgtgggaaga gggcatacgg agtggtgtcc atgtgcatcg
     1321 ggactggaat gggagccgct gccgtctttg aataccctgg gaactgagtg aggtcccagg
     1381 ctggaggcgc tacgcagaca gtcctgctgc tctagcagca aggcagtaac accacaaaag
     1441 caaaaccaca tgggaaaact cagcactggt ggtggtggca gtggacagat caaggcactt
     1501 caactcattt ggaaaatgtg aacactgatg acatggtata ggagtgggtg gggtgttgag
     1561 ccacccatca gaccctcttt agctgtgcaa gataaaagca gcctgggtca cccaggccac
     1621 aaggccatgg ttaattctta aggcaaggca aatccatgga tgagaagtgc aatgggcata
     1681 gtaaaagtgc atgaattta
//
