LOCUS       NP_000089                658 aa            linear   PRI 11-FEB-2025
DEFINITION  carnitine O-palmitoyltransferase 2, mitochondrial isoform 1
            precursor [Homo sapiens].
ACCESSION   NP_000089
VERSION     NP_000089.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 658)
  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  (residues 1 to 658)
  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  (residues 1 to 658)
  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  (residues 1 to 658)
  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  (residues 1 to 658)
  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  (residues 1 to 658)
  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  (residues 1 to 658)
  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  (residues 1 to 658)
  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  (residues 1 to 658)
  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 (residues 1 to 658)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..658
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     Protein         1..658
                     /product="carnitine O-palmitoyltransferase 2,
                     mitochondrial isoform 1 precursor"
                     /EC_number="2.3.1.21"
                     /note="carnitine palmitoyltransferase II; carnitine
                     O-palmitoyltransferase 2, mitochondrial; CPT II;
                     testicular secretory protein Li 13"
                     /calculated_mol_wt=71130
     transit_peptide 1..25
                     /calculated_mol_wt=2665
     mat_peptide     26..658
                     /product="carnitine O-palmitoyltransferase 2,
                     mitochondrial isoform 1"
                     /calculated_mol_wt=71130
     Region          52..642
                     /region_name="Carn_acyltransf"
                     /note="Choline/Carnitine o-acyltransferase; pfam00755"
                     /db_xref="CDD:459926"
     Site            79
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P52825; propagated from
                     UniProtKB/Swiss-Prot (P23786.2)"
     Site            239
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P52825; propagated from
                     UniProtKB/Swiss-Prot (P23786.2)"
     Site            305
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P52825; propagated from
                     UniProtKB/Swiss-Prot (P23786.2)"
     Site            510
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P52825; propagated from
                     UniProtKB/Swiss-Prot (P23786.2)"
     Site            544
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P52825; propagated from
                     UniProtKB/Swiss-Prot (P23786.2)"
     CDS             1..658
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /coded_by="NM_000098.3:121..2097"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS575.1"
                     /db_xref="GeneID:1376"
                     /db_xref="HGNC:HGNC:2330"
                     /db_xref="MIM:600650"
ORIGIN      
        1 mvprlllraw prgpavgpga psrplsagsg pgqylqrsiv ptmhyqdslp rlpipkledt
       61 irrylsaqkp llndgqfrkt eqfcksfeng igkelheqlv aldkqnkhts yisgpwfdmy
      121 lsardsvvln fnpfmafnpd pkseyndqlt ratnmtvsai rflktlragl lepevfhlnp
      181 aksdtitfkr lirfvpssls wygaylvnay pldmsqyfrl fnstrlpkps rdelftddka
      241 rhllvlrkgn fyifdvldqd gnivspseiq ahlkyilsds spapefplay ltsenrdiwa
      301 elrqklmssg neeslrkvds avfclclddf pikdlvhlsh nmlhgdgtnr wfdksfnlii
      361 akdgstavhf ehswgdgvav lrffnevfkd stqtpavtpq sqpattdstv tvqklnfelt
      421 dalktgitaa kekfdatmkt ltidcvqfqr ggkeflkkqk lspdavaqla fqmaflrqyg
      481 qtvatyescs taafkhgrte tirpasvytk rcseafvrep srhsagelqq mmvecskyhg
      541 qltkeaamgq gfdrhlfalr hlaaakgiil pelyldpayg qinhnvlsts tlsspavnlg
      601 gfapvvsdgf gvgyavhdnw igcnvssypg rnareflqcv ekaledmfda legksiks
//
