LOCUS       NM_000098               2699 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens carnitine palmitoyltransferase 2 (CPT2), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000098
VERSION     NM_000098.3
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 2699)
  AUTHORS   Li,J., Ni,Y., Zhang,Y. and Liu,H.
  TITLE     GBA3 promotes fatty acid oxidation and alleviates non-alcoholic
            fatty liver by increasing CPT2 transcription
  JOURNAL   Aging (Albany NY) 16 (5), 4591-4608 (2024)
   PUBMED   38428407
  REMARK    GeneRIF: GBA3 promotes fatty acid oxidation and alleviates
            non-alcoholic fatty liver by increasing CPT2 transcription.
REFERENCE   2  (bases 1 to 2699)
  AUTHORS   Lorenzoni,P.J., Kay,C.S.K., Ducci,R.D., Fustes,O.J.H.,
            Rodrigues,P.R.D.V.P., Arndt,R.C., Scola,R.H. and Werneck,L.C.
  TITLE     Myopathy due to carnitine palmitoyltransferase II deficiency:
            updating genetic aspects of the first publication in Brazil
  JOURNAL   Arq Neuropsiquiatr 82 (2), 1-4 (2024)
   PUBMED   38395422
  REMARK    GeneRIF: Myopathy due to carnitine palmitoyltransferase II
            deficiency: updating genetic aspects of the first publication in
            Brazil.
REFERENCE   3  (bases 1 to 2699)
  AUTHORS   Ke,Z.P., Tao,W.Q., Zhao,G. and Cheng,K.
  TITLE     Role of PPAR-related genes in chronic heart failure: evidence from
            large populations
  JOURNAL   BMC Cardiovasc Disord 23 (1), 552 (2023)
   PUBMED   37950149
  REMARK    GeneRIF: Role of PPAR-related genes in chronic heart failure:
            evidence from large populations.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2699)
  AUTHORS   Ruochen,Y., Wenbin,J., Chao,G., Yuhua,Y. and Feng,Q.
  TITLE     SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for
            Regulating Lactate Metabolism in Colon Cancer
  JOURNAL   Technol Cancer Res Treat 22, 15330338231212071 (2023)
   PUBMED   37926998
  REMARK    GeneRIF: SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for
            Regulating Lactate Metabolism in Colon Cancer.
REFERENCE   5  (bases 1 to 2699)
  AUTHORS   Liu,J., Li,Y., Xiao,Q., Li,Y., Peng,Y., Gan,Y., Shu,G., Yi,H. and
            Yin,G.
  TITLE     Identification of CPT2 as a prognostic biomarker by integrating the
            metabolism-associated gene signature in colorectal cancer
  JOURNAL   BMC Cancer 22 (1), 1038 (2022)
   PUBMED   36195841
  REMARK    GeneRIF: Identification of CPT2 as a prognostic biomarker by
            integrating the metabolism-associated gene signature in colorectal
            cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2699)
  AUTHORS   Wieser,T.
  TITLE     Carnitine Palmitoyltransferase II Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301431
REFERENCE   7  (bases 1 to 2699)
  AUTHORS   Taroni,F., Verderio,E., Fiorucci,S., Cavadini,P., Finocchiaro,G.,
            Uziel,G., Lamantea,E., Gellera,C. and DiDonato,S.
  TITLE     Molecular characterization of inherited carnitine
            palmitoyltransferase II deficiency
  JOURNAL   Proc Natl Acad Sci U S A 89 (18), 8429-8433 (1992)
   PUBMED   1528846
REFERENCE   8  (bases 1 to 2699)
  AUTHORS   Finocchiaro,G., Taroni,F., Rocchi,M., Liras Martin,A., Colombo,I.,
            Tarelli,G.T. and DiDonato,S.
  TITLE     cDNA cloning, sequence analysis, and chromosomal localization of
            human carnitine palmitoyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10981 (1991)
   PUBMED   1961767
  REMARK    Correction to:[Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):661-5.
            doi: 10.1073/pnas.88.2.661.. PMID: 1988962]
REFERENCE   9  (bases 1 to 2699)
  AUTHORS   Finocchiaro,G., Taroni,F., Rocchi,M., Martin,A.L., Colombo,I.,
            Tarelli,G.T. and DiDonato,S.
  TITLE     cDNA cloning, sequence analysis, and chromosomal localization of
            the gene for human carnitine palmitoyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 88 (2), 661-665 (1991)
   PUBMED   1988962
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10981. doi:
            10.1073/pnas.88.23.10981.. PMID: 1961767]
REFERENCE   10 (bases 1 to 2699)
  AUTHORS   Finocchiaro,G., Colombo,I. and DiDonato,S.
  TITLE     Purification, characterization and partial amino acid sequences of
            carnitine palmitoyl-transferase from human liver
  JOURNAL   FEBS Lett 274 (1-2), 163-166 (1990)
   PUBMED   2174799
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U09648.1 and BU629852.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000098.2.
            
            Summary: The protein encoded by this gene is a nuclear protein
            which is transported to the mitochondrial inner membrane. Together
            with carnitine palmitoyltransferase I, the encoded protein oxidizes
            long-chain fatty acids in the mitochondria. Defects in this gene
            are associated with mitochondrial long-chain fatty-acid (LCFA)
            oxidation disorders. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: HM005553.1, U09648.1 [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                 :: ENST00000371486.4/
                                                  ENSP00000360541.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2278              U09648.1           397-2674
            2279-2699           BU629852.1         17-437              c
FEATURES             Location/Qualifiers
     source          1..2699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..2699
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="carnitine palmitoyltransferase 2"
                     /db_xref="GeneID:1376"
                     /db_xref="HGNC:HGNC:2330"
                     /db_xref="MIM:600650"
     exon            1..272
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..2097
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /EC_number="2.3.1.21"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; carnitine palmitoyltransferase II; carnitine
                     O-palmitoyltransferase 2, mitochondrial; CPT II;
                     testicular secretory protein Li 13"
                     /codon_start=1
                     /product="carnitine O-palmitoyltransferase 2,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000089.1"
                     /db_xref="CCDS:CCDS575.1"
                     /db_xref="GeneID:1376"
                     /db_xref="HGNC:HGNC:2330"
                     /db_xref="MIM:600650"
                     /translation="MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMH
                     YQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVAL
                     DKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
                     RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYF
                     RLFNSTRLPKPSRDELFTDDKARHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYI
                     LSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKD
                     LVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDST
                     QTPAVTPQSQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQR
                     GGKEFLKKQKLSPDAVAQLAFQMAFLRQYGQTVATYESCSTAAFKHGRTETIRPASVY
                     TKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALRHLAAAK
                     GIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCN
                     VSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS"
     exon            273..353
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /inference="alignment:Splign:2.1.0"
     exon            354..460
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /inference="alignment:Splign:2.1.0"
     exon            461..1765
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1766..2699
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2676..2681
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="hexamer: AATAAA"
     polyA_site      2699
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="major polyA site"
ORIGIN      
        1 ggagaagtgc ctcaggagtc ctgacgcagt gtcttgggcg ctaacggcgg cggcggcctt
       61 gtgtttagac tccagaactc cccacttgcc gcgttctcgc cgccgcaggc tcccgggacg
      121 atggtgcccc gcctgctgct gcgcgcctgg ccccggggcc ccgcggttgg tccgggagcc
      181 cccagtcggc ccctcagcgc cggctccggg cccggccagt acctgcagcg cagcatcgtg
      241 cccaccatgc actaccagga cagcctgccc aggctgccta ttcccaaact tgaagacacc
      301 attaggagat acctcagtgc acagaagcct ctcttgaatg atggccagtt caggaaaaca
      361 gaacaatttt gcaagagttt tgaaaatggg attggaaaag aactgcatga gcagctggtt
      421 gctctggaca aacagaataa acatacaagc tacatttcgg gaccctggtt tgatatgtac
      481 ctatctgctc gagactccgt tgttctgaac tttaatccat ttatggcttt caatcctgac
      541 ccaaaatctg agtataatga ccagctcacc cgggcaacca acatgactgt ttctgccatc
      601 cggtttctga agacactccg ggctggcctt ctggagccag aagtgttcca cttgaaccct
      661 gcaaaaagtg acactatcac cttcaagaga ctcatacgct ttgtgccttc ctctctgtcc
      721 tggtatgggg cctacctggt caatgcgtat cccctggata tgtcccagta ttttcggctt
      781 ttcaactcaa ctcgtttacc caaacccagt cgggatgaac tcttcactga tgacaaggcc
      841 agacacctcc tggtcctaag gaaaggaaat ttttatatct ttgatgtcct ggatcaagat
      901 gggaacattg tgagcccctc ggaaatccag gcacatctga agtacattct ctcagacagc
      961 agccccgccc ccgagtttcc cctggcatac ctgaccagtg agaaccgaga catctgggca
     1021 gagctcaggc agaagctgat gagtagtggc aatgaggaga gcctgaggaa agtggactcg
     1081 gcagtgttct gtctctgcct agatgacttc cccattaagg accttgtcca cttgtcccac
     1141 aatatgctgc atggggatgg cacaaaccgc tggtttgata aatcctttaa cctcattatc
     1201 gccaaggatg gctctactgc cgtccacttt gagcactctt ggggtgatgg tgtggcagtg
     1261 ctcagatttt ttaatgaagt atttaaagac agcactcaga cccctgccgt cactccacag
     1321 agccagccag ctaccactga ctctactgtc acggtgcaga aactcaactt cgagctgact
     1381 gatgccttaa agactggcat cacagctgct aaggaaaagt ttgatgccac catgaaaacc
     1441 ctcactattg actgcgtcca gtttcagaga ggaggcaaag aattcctgaa gaagcaaaag
     1501 ctgagccctg acgcagttgc ccagctggca ttccagatgg ccttcctgcg gcagtacggg
     1561 cagacagtgg ccacctacga gtcctgtagc actgccgcat tcaagcacgg ccgcactgag
     1621 accatccgcc cggcctccgt ctatacaaag aggtgctctg aggcctttgt cagggagccc
     1681 tccaggcaca gtgctggtga gcttcagcag atgatggttg agtgctccaa gtaccatggc
     1741 cagctgacca aagaagcagc aatgggccag ggctttgacc gacacttgtt tgctctgcgg
     1801 catctggcag cagccaaagg gatcatcttg cctgagctct acctggaccc tgcatacggg
     1861 cagataaacc acaatgtcct gtccacgagc acactgagca gcccagcagt gaaccttggg
     1921 ggctttgccc ctgtggtctc tgatggcttt ggtgttgggt atgctgttca tgacaactgg
     1981 ataggctgca atgtctcttc ctacccaggc cgcaatgccc gggagtttct ccaatgtgtg
     2041 gagaaggcct tagaagacat gtttgatgcc ttagaaggca aatccatcaa aagttaactt
     2101 ctgggcagat gaaaagctac catcacttcc tcatcatgaa aactgggagg ccgggcatgg
     2161 tggctcatgc ctgtaatccc agcattttga gaggctgagg cgggtggatc acttgaggtc
     2221 aggagtttga gaccaacctg gccaacatgg tgaaaccttg tctctactaa aaatacaaaa
     2281 attagctggg tgtggtggca tgtgcctata atcccagcta cttgggaggt tgaagcagaa
     2341 ttgcttgaac ccaggaggtg gaggttgcag tgagctgaga tcacaccact gcactccggc
     2401 ctgggcgaca gagcgagact gtctcaaaaa aacaaaaaag aaaaaaaaac tggggcctgt
     2461 gtagccagtg ggtgctattc tgtgaaacta atcataagct gcctaggcag ccagctacag
     2521 gcttgagctt taaattcatg gttttaaagc taaacgtaat ttccacttgg gactagatca
     2581 caactgaaga taacaagaga tttaagtttt aagggcattt aatcaggagg aaaggtttgg
     2641 aaaactaact caggtgtatt tattgtttaa gcagaaataa agtttaattt ttgcttgaa
//
