LOCUS       NM_000016               2261 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens acyl-CoA dehydrogenase medium chain (ACADM),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000016
VERSION     NM_000016.6
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 2261)
  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   2  (bases 1 to 2261)
  AUTHORS   Grosse,S.D., Khoury,M.J., Greene,C.L., Crider,K.S. and Pollitt,R.J.
  TITLE     The epidemiology of medium chain acyl-CoA dehydrogenase deficiency:
            an update
  JOURNAL   Genet Med 8 (4), 205-212 (2006)
   PUBMED   16617240
  REMARK    Review article
REFERENCE   3  (bases 1 to 2261)
  AUTHORS   Battaile,K.P., McBurney,M., Van Veldhoven,P.P. and Vockley,J.
  TITLE     Human long chain, very long chain and medium chain acyl-CoA
            dehydrogenases are specific for the S-enantiomer of 2-
            methylpentadecanoyl-CoA
  JOURNAL   Biochim Biophys Acta 1390 (3), 333-338 (1998)
   PUBMED   9487154
REFERENCE   4  (bases 1 to 2261)
  AUTHORS   Lee,H.J., Wang,M., Paschke,R., Nandy,A., Ghisla,S. and Kim,J.J.
  TITLE     Crystal structures of the wild type and the Glu376Gly/Thr255Glu
            mutant of human medium-chain acyl-CoA dehydrogenase: influence of
            the location of the catalytic base on substrate specificity
  JOURNAL   Biochemistry 35 (38), 12412-12420 (1996)
   PUBMED   8823176
REFERENCE   5  (bases 1 to 2261)
  AUTHORS   Leone,T.C., Cresci,S., Carter,M.E., Zhang,Z., Lala,D.S.,
            Strauss,A.W. and Kelly,D.P.
  TITLE     The human medium chain Acyl-CoA dehydrogenase gene promoter
            consists of a complex arrangement of nuclear receptor response
            elements and Sp1 binding sites
  JOURNAL   J Biol Chem 270 (27), 16308-16314 (1995)
   PUBMED   7608198
  REMARK    Erratum:[J Biol Chem. 1995 Oct 13;270(41):24622.. PMID: 7592684]
REFERENCE   6  (bases 1 to 2261)
  AUTHORS   Chang,I.J., Lam,C. and Vockley,J.
  TITLE     Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301597
REFERENCE   7  (bases 1 to 2261)
  AUTHORS   Zhang,Z.F., Kelly,D.P., Kim,J.J., Zhou,Y.Q., Ogden,M.L.,
            Whelan,A.J. and Strauss,A.W.
  TITLE     Structural organization and regulatory regions of the human
            medium-chain acyl-CoA dehydrogenase gene
  JOURNAL   Biochemistry 31 (1), 81-89 (1992)
   PUBMED   1731887
REFERENCE   8  (bases 1 to 2261)
  AUTHORS   Tanaka,K., Yokota,I., Coates,P.M., Strauss,A.W., Kelly,D.P.,
            Zhang,Z., Gregersen,N., Andresen,B.S., Matsubara,Y., Curtis,D. et
            al.
  TITLE     Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene
  JOURNAL   Hum Mutat 1 (4), 271-279 (1992)
   PUBMED   1363805
  REMARK    Review article
REFERENCE   9  (bases 1 to 2261)
  AUTHORS   Kelly,D.P., Kim,J.J., Billadello,J.J., Hainline,B.E., Chu,T.W. and
            Strauss,A.W.
  TITLE     Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and
            its expression in enzyme-deficient human tissue
  JOURNAL   Proc Natl Acad Sci U S A 84 (12), 4068-4072 (1987)
   PUBMED   3035565
REFERENCE   10 (bases 1 to 2261)
  AUTHORS   Matsubara,Y., Kraus,J.P., Yang-Feng,T.L., Francke,U.,
            Rosenberg,L.E. and Tanaka,K.
  TITLE     Molecular cloning of cDNAs encoding rat and human medium-chain
            acyl-CoA dehydrogenase and assignment of the gene to human
            chromosome 1
  JOURNAL   Proc Natl Acad Sci U S A 83 (17), 6543-6547 (1986)
   PUBMED   3462713
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL357314.11 and BC005377.1.
            
            On Dec 4, 2019 this sequence version replaced NM_000016.5.
            
            Summary: This gene encodes the medium-chain specific (C4 to C12
            straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer
            enzyme catalyzes the initial step of the mitochondrial fatty acid
            beta-oxidation pathway. Defects in this gene cause medium-chain
            acyl-CoA dehydrogenase deficiency, a disease characterized by
            hepatic dysfunction, fasting hypoglycemia, and encephalopathy,
            which can result in infantile death. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes isoform a.
            
            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 :: HM005320.1, BC005377.1 [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                 :: ENST00000370841.9/
                                                  ENSP00000359878.5
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-44                AL357314.11        11793-11836
            45-2072             BC005377.1         1-2028
            2073-2261           AL357314.11        50575-50763
FEATURES             Location/Qualifiers
     source          1..2261
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..2261
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="acyl-CoA dehydrogenase medium chain"
                     /db_xref="GeneID:34"
                     /db_xref="HGNC:HGNC:89"
                     /db_xref="MIM:607008"
     exon            1..109
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..1345
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /EC_number="1.3.8.7"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; acyl-Coenzyme A dehydrogenase, C-4 to C-12
                     straight chain; medium-chain specific acyl-CoA
                     dehydrogenase, mitochondrial; testicular tissue protein Li
                     7; medium-chain acyl-CoA dehydrogenase; acyl-CoA
                     dehydrogenase, C-4 to C-12 straight chain"
                     /codon_start=1
                     /product="medium-chain specific acyl-CoA dehydrogenase,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_000007.1"
                     /db_xref="CCDS:CCDS668.1"
                     /db_xref="GeneID:34"
                     /db_xref="HGNC:HGNC:89"
                     /db_xref="MIM:607008"
                     /translation="MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQ
                     QKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGT
                     FDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCV
                     TEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKA
                     FTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGA
                     FDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELAR
                     MSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMR
                     DAKIYQIYEGTSQIQRLIVAREHIDKYKN"
     exon            110..197
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     exon            198..295
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     exon            296..365
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     exon            366..466
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     exon            467..547
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     exon            548..678
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     exon            679..787
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     exon            788..928
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1024
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1273
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     exon            1274..2261
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2053..2058
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="hexamer: AATAAA"
     polyA_site      2079
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="major polyA site"
     regulatory      2243..2248
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="hexamer: AATAAT"
     polyA_site      2261
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
ORIGIN      
        1 agaggagtcc cgcgttcggg gagtatgtca aggccgtgac ccgtgtatta ttgtccgagt
       61 ggccggaacg ggagccaaca tggcagcggg gttcgggcga tgctgcaggg tcctgagaag
      121 tatttctcgt tttcattgga gatcacagca tacaaaagcc aatcgacaac gtgaaccagg
      181 attaggattt agttttgagt tcaccgaaca gcagaaagaa tttcaagcta ctgctcgtaa
      241 atttgccaga gaggaaatca tcccagtggc tgcagaatat gataaaactg gtgaatatcc
      301 agtcccccta attagaagag cctgggaact tggtttaatg aacacacaca ttccagagaa
      361 ctgtggaggt cttggacttg gaacttttga tgcttgttta attagtgaag aattggctta
      421 tggatgtaca ggggttcaga ctgctattga aggaaattct ttggggcaaa tgcctattat
      481 tattgctgga aatgatcaac aaaagaagaa gtatttgggg agaatgactg aggagccatt
      541 gatgtgtgct tattgtgtaa cagaacctgg agcaggctct gatgtagctg gtataaagac
      601 caaagcagaa aagaaaggag atgagtatat tattaatggt cagaagatgt ggataaccaa
      661 cggaggaaaa gctaattggt attttttatt ggcacgttct gatccagatc ctaaagctcc
      721 tgctaataaa gcctttactg gattcattgt ggaagcagat accccaggaa ttcagattgg
      781 gagaaaggaa ttaaacatgg gccagcgatg ttcagatact agaggaattg tcttcgaaga
      841 tgtgaaagtg cctaaagaaa atgttttaat tggtgacgga gctggtttca aagttgcaat
      901 gggagctttt gataaaacca gacctgtagt agctgctggt gctgttggat tagcacaaag
      961 agctttggat gaagctacca agtatgccct ggaaaggaaa actttcggaa agctacttgt
     1021 agagcaccaa gcaatatcat ttatgctggc tgaaatggca atgaaagttg aactagctag
     1081 aatgagttac cagagagcag cttgggaggt tgattctggt cgtcgaaata cctattatgc
     1141 ttctattgca aaggcatttg ctggagatat tgcaaatcag ttagctactg atgctgtgca
     1201 gatacttgga ggcaatggat ttaatacaga atatcctgta gaaaaactaa tgagggatgc
     1261 caaaatctat cagatttatg aaggtacttc acaaattcaa agacttattg tagcccgtga
     1321 acacattgac aagtacaaaa attaaaaaaa ttactgtaga aatattgaat aactagaaca
     1381 caagccactg tttcagctcc agaaaaaaga aagggcttta acgttttttc cagtgaaaac
     1441 aaatcctctt atattaaatc taagcaactg cttattatag tagtttatac ttttgcttaa
     1501 ctctgttatg tctcttaagc aggtttggtt tttattaaaa tgatgtgttt tctttagtac
     1561 cactttactt gaattacatt aacctagaaa actacatagg ttattttgat ctcttaagat
     1621 taatgtagca gaaatttctt ggaattttat ttttgtaatg acagaaaagt gggcttagaa
     1681 agtattcaag atgttacaaa atttacattt agaaaatatt gtagtatttg aatactgtca
     1741 acttgacagt aactttgtag acttaatggt attattaaag ttctttttat tgcagtttgg
     1801 aaagcatttg tgaaactttc tgtttggcac agaaacagtc aaaattttga cattcatatt
     1861 ctcctatttt acagctacaa gaactttctt gaaaatctta tttaattctg agcccatatt
     1921 tcacttacct tatttaaaat aaatcaataa agcttgcctt aaattatttt tatatgactg
     1981 ttggtctcta ggtagccttt ggtctattgt acacaatctc atttcatatg tttgcatttt
     2041 ggcaaagaac ttaataaaat tgttcagtgc ttattatcat atctttctgt attttttcca
     2101 ggaaatttca ttacttcgtg taatagtgta tatttcttgt atttactatg atgaaaaaag
     2161 gtcgttttaa ttttgaattg aataaagtta cctgttcatt ttttattaga tattttaaag
     2221 acttcagaaa atataaatat gaaataattt aagaacccaa a
//
