LOCUS       NM_000755               2768 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens carnitine O-acetyltransferase (CRAT), transcript
            variant 1, mRNA.
ACCESSION   NM_000755
VERSION     NM_000755.5
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 2768)
  AUTHORS   Song,M.J., Park,C.H., Kim,H., Han,S., Lee,S.H., Lee,D.H. and
            Chung,J.H.
  TITLE     Carnitine acetyltransferase deficiency mediates mitochondrial
            dysfunction-induced cellular senescence in dermal fibroblasts
  JOURNAL   Aging Cell 22 (11), e14000 (2023)
   PUBMED   37828898
  REMARK    GeneRIF: Carnitine acetyltransferase deficiency mediates
            mitochondrial dysfunction-induced cellular senescence in dermal
            fibroblasts.
REFERENCE   2  (bases 1 to 2768)
  AUTHORS   Mancilla,R.F., Lindeboom,L., Grevendonk,L., Hoeks,J., Koves,T.R.,
            Muoio,D.M., Schrauwen,P., Schrauwen-Hinderling,V. and
            Hesselink,M.K.
  TITLE     Skeletal muscle mitochondrial inertia is associated with carnitine
            acetyltransferase activity and physical function in humans
  JOURNAL   JCI Insight 8 (1), e163855 (2023)
   PUBMED   36413408
  REMARK    GeneRIF: Skeletal muscle mitochondrial inertia is associated with
            carnitine acetyltransferase activity and physical function in
            humans.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2768)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 2768)
  AUTHORS   Laera,L., Punzi,G., Porcelli,V., Gambacorta,N., Trisolini,L.,
            Pierri,C.L. and De Grassi,A.
  TITLE     CRAT missense variants cause abnormal carnitine acetyltransferase
            function in an early-onset case of Leigh syndrome
  JOURNAL   Hum Mutat 41 (1), 110-114 (2020)
   PUBMED   31448845
  REMARK    GeneRIF: CRAT missense variants cause abnormal carnitine
            acetyltransferase function in an early-onset case of Leigh
            syndrome.
REFERENCE   5  (bases 1 to 2768)
  AUTHORS   Zammit,V.A., Ramsay,R.R., Bonomini,M. and Arduini,A.
  TITLE     Carnitine, mitochondrial function and therapy
  JOURNAL   Adv Drug Deliv Rev 61 (14), 1353-1362 (2009)
   PUBMED   19716391
  REMARK    Review article
REFERENCE   6  (bases 1 to 2768)
  AUTHORS   Corti,O., DiDonato,S. and Finocchiaro,G.
  TITLE     Divergent sequences in the 5' region of cDNA suggest alternative
            splicing as a mechanism for the generation of carnitine
            acetyltransferases with different subcellular localizations
  JOURNAL   Biochem J 303 (Pt 1) (Pt 1), 37-41 (1994)
   PUBMED   7945262
REFERENCE   7  (bases 1 to 2768)
  AUTHORS   Corti,O., Finocchiaro,G., Rossi,E., Zuffardi,O. and DiDonato,S.
  TITLE     Molecular cloning of cDNAs encoding human carnitine
            acetyltransferase and mapping of the corresponding gene to
            chromosome 9q34.1
  JOURNAL   Genomics 23 (1), 94-99 (1994)
   PUBMED   7829107
REFERENCE   8  (bases 1 to 2768)
  AUTHORS   Ramsay,R.R. and Arduini,A.
  TITLE     The carnitine acyltransferases and their role in modulating
            acyl-CoA pools
  JOURNAL   Arch Biochem Biophys 302 (2), 307-314 (1993)
   PUBMED   8489235
  REMARK    Review article
REFERENCE   9  (bases 1 to 2768)
  AUTHORS   Kalaria,R.N. and Harik,S.I.
  TITLE     Carnitine acetyltransferase activity in the human brain and its
            microvessels is decreased in Alzheimer's disease
  JOURNAL   Ann Neurol 32 (4), 583-586 (1992)
   PUBMED   1456745
REFERENCE   10 (bases 1 to 2768)
  AUTHORS   Bloisi,W., Colombo,I., Garavaglia,B., Giardini,R., Finocchiaro,G.
            and Didonato,S.
  TITLE     Purification and properties of carnitine acetyltransferase from
            human liver
  JOURNAL   Eur J Biochem 189 (3), 539-546 (1990)
   PUBMED   2351134
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158151.16.
            
            On Nov 22, 2018 this sequence version replaced NM_000755.4.
            
            Summary: This gene encodes carnitine O-acetyltransferase, a member
            of the carnitine acyltransferase family and a key metabolic pathway
            enzyme which plays an important role in energy homeostasis and fat
            metabolism. This enzyme catalyzes the reversible transfer of acyl
            groups from an acyl-CoA thioester to carnitine and regulates the
            ratio of acyl-CoA/CoA. It is found in both the mitochondria and the
            peroxisome. Alternative splicing results in transcript variants
            encoding different isoforms that may localize to different
            subcellular compartments. [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803611.220366.1,
                                           SRR1803617.210844.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000318080.7/
                                                  ENSP00000315013.2
            RefSeq Select criteria             :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-311               AL158151.16        17964-18274         c
            312-575             AL158151.16        15295-15558         c
            576-694             AL158151.16        11669-11787         c
            695-748             AL158151.16        10494-10547         c
            749-914             AL158151.16        9881-10046          c
            915-1089            AL158151.16        9364-9538           c
            1090-1268           AL158151.16        7992-8170           c
            1269-1369           AL158151.16        7347-7447           c
            1370-1489           AL158151.16        6012-6131           c
            1490-1612           AL158151.16        5730-5852           c
            1613-1748           AL158151.16        5494-5629           c
            1749-1811           AL158151.16        4731-4793           c
            1812-1949           AL158151.16        3479-3616           c
            1950-2768           AL158151.16        2275-3093           c
FEATURES             Location/Qualifiers
     source          1..2768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..2768
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /note="carnitine O-acetyltransferase"
                     /db_xref="GeneID:1384"
                     /db_xref="HGNC:HGNC:2342"
                     /db_xref="MIM:600184"
     exon            1..311
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     CDS             285..2165
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /EC_number="2.3.1.7"
                     /EC_number="2.3.1.137"
                     /note="isoform 1 is encoded by transcript variant 1;
                     carnitine acetylase"
                     /codon_start=1
                     /product="carnitine O-acetyltransferase isoform 1"
                     /protein_id="NP_000746.3"
                     /db_xref="CCDS:CCDS6919.1"
                     /db_xref="GeneID:1384"
                     /db_xref="HGNC:HGNC:2342"
                     /db_xref="MIM:600184"
                     /translation="MLAFAARTVVKPLGFLKPFSLMKASSRFKAHQDALPRLPVPPLQ
                     QSLDHYLKALQPIVSEEEWAHTKQLVDEFQASGGVGERLQKGLERRARKTENWLSEWW
                     LKTAYLQYRQPVVIYSSPGVMLPKQDFVDLQGQLRFAAKLIEGVLDFKVMIDNETLPV
                     EYLGGKPLCMNQYYQILSSCRVPGPKQDTVSNFSKTKKPPTHITVVHNYQFFELDVYH
                     SDGTPLTADQIFVQLEKIWNSSLQTNKEPVGILTSNHRNSWAKAYNTLIKDKVNRDSV
                     RSIQKSIFTVCLDATMPRVSEDVYRSHVAGQMLHGGGSRLNSGNRWFDKTLQFIVAED
                     GSCGLVYEHAAAEGPPIVTLLDYVIEYTKKPELVRSPLVPLPMPKKLRFNITPEIKSD
                     IEKAKQNLSIMIQDLDITVMVFHHFGKDFPKSEKLSPDAFIQMALQLAYYRIYGQACA
                     TYESASLRMFHLGRTDTIRSASMDSLTFVKAMDDSSVTEHQKVELLRKAVQAHRGYTD
                     RAIRGEAFDRHLLGLKLQAIEDLVSMPDIFMDTSYAIAMHFHLSTSQVPAKTDCVMFF
                     GPVVPDGYGVCYNPMEAHINFSLSAYNSCAETNAARLAHYLEKALLDMRALLQSHPRA
                     KL"
     exon            312..575
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            576..694
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            695..748
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            749..914
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            915..1089
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1268
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            1269..1369
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            1370..1489
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            1490..1612
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1748
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..1811
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            1812..1949
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     exon            1950..2768
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2744..2749
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /note="hexamer: AATAAA"
     polyA_site      2768
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /note="major polyA site"
ORIGIN      
        1 gtccccgccc cacagccaac ctcccgggca ccgttgcccg cccggggccc gctaccggcc
       61 caggccccgc ctcgcgagtc ctcctccccg ggtgccttcc cgcagcccgc tcggcccaga
      121 gggtgggcgc ggggctgcct ctaccggctg gcggctgtaa ctcagcgacc ttggcccgaa
      181 ggctctagca aggacccacc gaccccagcc gcggcggcgg cggcgcggac tttgcccggt
      241 gtgtggggcg gagcggactg cgtgtccgcg gacgggcagc gaagatgtta gccttcgctg
      301 ccaggaccgt ggtgaagcct ctgggcttcc tgaagccctt ctccttgatg aaggcttcca
      361 gccgcttcaa ggcacaccag gatgcactgc cacggctgcc cgtgccccct ctccagcagt
      421 ccctggacca ctacctgaag gcgctgcagc ccatcgtgag tgaggaggag tgggcccaca
      481 ccaagcagct ggtggatgag tttcaggcct caggaggtgt aggggagcgc ctgcagaagg
      541 ggctggagcg tcgggccagg aagacggaga actggctgtc tgagtggtgg ctcaagaccg
      601 cctacctcca gtaccgccag cctgtggtca tctactcgag cccaggcgtg atgctaccca
      661 agcaggactt cgtggacctg cagggtcagc tccgatttgc tgccaaactc attgagggtg
      721 tgttggattt caaggtcatg attgacaacg agaccctgcc cgtggagtac ctggggggga
      781 agccactgtg catgaaccag tactatcaga tcttgtcctc ctgccgagtg ccgggcccca
      841 agcaggacac agtcagcaac ttcagcaaga ccaagaagcc tcccacgcac atcaccgtgg
      901 tacacaacta ccagtttttt gagctggatg tgtaccacag tgacgggaca cccctcactg
      961 cggatcagat ctttgtgcag ctggagaaga tctggaactc atccctacag accaacaagg
     1021 agcctgtggg catcctcacc tccaaccacc gcaactcctg ggccaaggca tacaacaccc
     1081 tcatcaaaga caaggtgaac cgggattccg tgcgctccat ccagaagagc atcttcaccg
     1141 tgtgcctaga tgcaaccatg cccagggtct cagaagacgt gtaccgcagc cacgtggcag
     1201 gccagatgct gcatgggggc ggcagcaggc tcaacagcgg caaccgctgg ttcgacaaga
     1261 cgctgcagtt catcgtggca gaagatggct cctgtgggct tgtgtacgag catgctgcag
     1321 cggaggggcc ccctattgtc acccttctgg actatgtcat cgagtacacg aagaaacccg
     1381 agcttgtgcg gtctcccctg gtgcccctgc ccatgcccaa gaagctgcgg ttcaacatca
     1441 cccccgagat caagagcgac atcgagaagg ccaagcagaa cctcagcatc atgatccagg
     1501 acctggatat caccgtgatg gtgttccacc attttggaaa agacttcccc aagtcggaga
     1561 agctaagccc agatgccttc atccagatgg ctttgcagct ggcctactac aggatctacg
     1621 gacaggcatg tgccacctat gaaagtgcct ccctgcgcat gtttcacctg ggccgcaccg
     1681 acaccatccg ctcggcttcc atggactcac tcacctttgt caaggccatg gatgactcca
     1741 gcgtcacgga gcaccagaag gtggagctgc tgcggaaggc cgtgcaggcc caccgaggct
     1801 acaccgaccg ggccatccgc ggggaggcct ttgatcgaca cctgctgggc ctgaagctgc
     1861 aggccatcga ggacctggtg agcatgcccg acatcttcat ggacacctcc tacgccatcg
     1921 ccatgcactt ccacctctcc accagccagg tccctgccaa gacagactgt gtcatgttct
     1981 tcgggcccgt ggtccccgac ggctacggtg tctgctataa ccccatggag gcccacatca
     2041 acttctccct gtcggcctac aacagctgcg cggagaccaa cgccgcccgc ctggcgcatt
     2101 acctggagaa ggcgctcctg gacatgcgtg ccctgctgca gagccacccc cgggccaagc
     2161 tctgagcccc taggactcag gcctgccaat gccacagcca agcccaccct gggatgggcc
     2221 acccaccagg gctcagctcc ttggttccct cttccttggt tccctcttcc ctggtccccc
     2281 caaatctact gagccacgga ccgcatcctc cagggggcct gcaggcccca gccaagtgcc
     2341 ttccgtgggt catcccagca cctgccaggg cccgacctgg ggctgagtgc agaggctgag
     2401 caggacgtta ggcccgggcc cctggcacgt cctccaccgg tgcctcctct ggggaaggga
     2461 accagccctc cagagcagga gactggcaag agctctttgt ctcaccagct cagccccggc
     2521 cactccctgc caactccatg accaggccac catctgtacc ctgcttccca aactcccagg
     2581 acctggagac aggattgtct ggggccgagg ggccagggtg tgaggtttca cctccgttgc
     2641 ggctgtgctc ctgtggataa cattgctagc gagccgcctc tggttccact cagcttggtt
     2701 cctgcccccg ccctgctgta tgatattaat gtggaaggtc atcaataaag gggaattgtg
     2761 ttggtgaa
//
