LOCUS       NP_001598                424 aa            linear   PRI 06-JUN-2024
DEFINITION  3-ketoacyl-CoA thiolase, peroxisomal isoform a [Homo sapiens].
ACCESSION   NP_001598
VERSION     NP_001598.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 424)
  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  (residues 1 to 424)
  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  (residues 1 to 424)
  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  (residues 1 to 424)
  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  (residues 1 to 424)
  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  (residues 1 to 424)
  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  (residues 1 to 424)
  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  (residues 1 to 424)
  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  (residues 1 to 424)
  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 (residues 1 to 424)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     Protein         1..424
                     /product="3-ketoacyl-CoA thiolase, peroxisomal isoform a"
                     /EC_number="2.3.1.9"
                     /EC_number="2.3.1.16"
                     /EC_number="2.3.1.155"
                     /note="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"
                     /calculated_mol_wt=41491
     Region          1..420
                     /region_name="PLN02287"
                     /note="3-ketoacyl-CoA thiolase"
                     /db_xref="CDD:215161"
     transit_peptide 1..26
                     /note="Peroxisome. /evidence=ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (P09110.2)"
                     /calculated_mol_wt=2819
     Region          1..26
                     /region_name="PTS2-type peroxisomal targeting signal.
                     /evidence=ECO:0000269|PubMed:22057399,
                     ECO:0000269|PubMed:25538232"
                     /note="propagated from UniProtKB/Swiss-Prot (P09110.2)"
     mat_peptide     27..424
                     /product="3-ketoacyl-CoA thiolase, peroxisomal.
                     /id=PRO_0000034067"
                     /note="propagated from UniProtKB/Swiss-Prot (P09110.2)"
                     /calculated_mol_wt=41491
     Site            59
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P09110.2)"
     Site            60
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P09110.2)"
     CDS             1..424
                     /gene="ACAA1"
                     /gene_synonym="ACAA; Lnc-Myd88; PTHIO; THIO"
                     /coded_by="NM_001607.4:93..1367"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2673.1"
                     /db_xref="GeneID:30"
                     /db_xref="HGNC:HGNC:82"
                     /db_xref="MIM:604054"
ORIGIN      
        1 mqrlqvvlgh lrgpadsgwm pqaapclsga pqasaadvvv vhgrrtaicr agrggfkdtt
       61 pdellsavmt avlkdvnlrp eqlgdicvgn vlqpgagaim ariaqflsdi petvplstvn
      121 rqcssglqav asiaggirng sydigmacgv esmsladrgn pgnitsrlme kekardclip
      181 mgitsenvae rfgisrekqd tfalasqqka araqskgcfq aeivpvtttv hddkgtkrsi
      241 tvtqdegirp sttmeglakl kpafkkdgst tagnssqvsd gaaaillarr skaeelglpi
      301 lgvlrsyavv gvppdimgig payaipvalq kagltvsdvd ifeineafas qaaycveklr
      361 lppekvnplg gavalghplg ctgarqvitl lnelkrrgkr aygvvsmcig tgmgaaavfe
      421 ypgn
//
