LOCUS       NM_000018               2184 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens acyl-CoA dehydrogenase very long chain (ACADVL),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000018
VERSION     NM_000018.4
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  (bases 1 to 2184)
  AUTHORS   Flowers,M., Dickson,A., Miller,M.J., Spector,E., Enns,G.M.,
            Baudet,H., Pasquali,M., Racacho,L., Sadre-Bazzaz,K., Wen,T.,
            Fogarty,M., Fernandez,R., Weaver,M.A., Feigenbaum,A., Graham,B.H.
            and Mao,R.
  TITLE     Specifications of the ACMG/AMP guidelines for ACADVL variant
            interpretation
  JOURNAL   Mol Genet Metab 140 (3), 107668 (2023)
   PUBMED   37549443
  REMARK    GeneRIF: Specifications of the ACMG/AMP guidelines for ACADVL
            variant interpretation.
REFERENCE   2  (bases 1 to 2184)
  AUTHORS   Hsu,C.C., Wang,J.S., Shyu,Y.C., Fu,T.C., Juan,Y.H., Yuan,S.S.,
            Wang,C.H., Yeh,C.H., Liao,P.C., Wu,H.Y. and Hsu,P.H.
  TITLE     Hypermethylation of ACADVL is involved in the high-intensity
            interval training-associated reduction of cardiac fibrosis in heart
            failure patients
  JOURNAL   J Transl Med 21 (1), 187 (2023)
   PUBMED   36894992
  REMARK    GeneRIF: Hypermethylation of ACADVL is involved in the
            high-intensity interval training-associated reduction of cardiac
            fibrosis in heart failure patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2184)
  AUTHORS   D'Annibale,O.M., Phua,Y.L., Van't Land,C., Karunanidhi,A.,
            Dorenbaum,A., Mohsen,A.W. and Vockley,J.
  TITLE     Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome
            Proliferator-Activated Receptor delta Agonist Improves Cellular
            Bioenergetics
  JOURNAL   Cells 11 (17), 2635 (2022)
   PUBMED   36078043
  REMARK    GeneRIF: Treatment of VLCAD-Deficient Patient Fibroblasts with
            Peroxisome Proliferator-Activated Receptor delta Agonist Improves
            Cellular Bioenergetics.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2184)
  AUTHORS   Prew,M.S., Camara,C.M., Botzanowski,T., Moroco,J.A., Bloch,N.B.,
            Levy,H.R., Seo,H.S., Dhe-Paganon,S., Bird,G.H., Herce,H.D.,
            Gygi,M.A., Escudero,S., Wales,T.E., Engen,J.R. and Walensky,L.D.
  TITLE     Structural basis for defective membrane targeting of mutant enzyme
            in human VLCAD deficiency
  JOURNAL   Nat Commun 13 (1), 3669 (2022)
   PUBMED   35760926
  REMARK    GeneRIF: Structural basis for defective membrane targeting of
            mutant enzyme in human VLCAD deficiency.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2184)
  AUTHORS   D'Annibale,O.M., Koppes,E.A., Sethuraman,M., Bloom,K., Mohsen,A.W.
            and Vockley,J.
  TITLE     Characterization of exonic variants of uncertain significance in
            very long-chain acyl-CoA dehydrogenase identified through newborn
            screening
  JOURNAL   J Inherit Metab Dis 45 (3), 529-540 (2022)
   PUBMED   35218577
  REMARK    GeneRIF: Characterization of exonic variants of uncertain
            significance in very long-chain acyl-CoA dehydrogenase identified
            through newborn screening.
REFERENCE   6  (bases 1 to 2184)
  AUTHORS   Strauss,A.W., Powell,C.K., Hale,D.E., Anderson,M.M., Ahuja,A.,
            Brackett,J.C. and Sims,H.F.
  TITLE     Molecular basis of human mitochondrial very-long-chain acyl-CoA
            dehydrogenase deficiency causing cardiomyopathy and sudden death in
            childhood
  JOURNAL   Proc Natl Acad Sci U S A 92 (23), 10496-10500 (1995)
   PUBMED   7479827
REFERENCE   7  (bases 1 to 2184)
  AUTHORS   Aoyama,T., Souri,M., Ueno,I., Kamijo,T., Yamaguchi,S., Rhead,W.J.,
            Tanaka,K. and Hashimoto,T.
  TITLE     Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and
            molecular characterization of its deficiency in two patients
  JOURNAL   Am J Hum Genet 57 (2), 273-283 (1995)
   PUBMED   7668252
REFERENCE   8  (bases 1 to 2184)
  AUTHORS   Aoyama,T., Souri,M., Ushikubo,S., Kamijo,T., Yamaguchi,S.,
            Kelley,R.I., Rhead,W.J., Uetake,K., Tanaka,K. and Hashimoto,T.
  TITLE     Purification of human very-long-chain acyl-coenzyme A dehydrogenase
            and characterization of its deficiency in seven patients
  JOURNAL   J Clin Invest 95 (6), 2465-2473 (1995)
   PUBMED   7769092
REFERENCE   9  (bases 1 to 2184)
  AUTHORS   Aoyama,T., Uchida,Y., Kelley,R.I., Marble,M., Hofman,K.,
            Tonsgard,J.H., Rhead,W.J. and Hashimoto,T.
  TITLE     A novel disease with deficiency of mitochondrial very-long-chain
            acyl-CoA dehydrogenase
  JOURNAL   Biochem Biophys Res Commun 191 (3), 1369-1372 (1993)
   PUBMED   8466512
REFERENCE   10 (bases 1 to 2184)
  AUTHORS   Leslie,N.D. and Saenz-Ayala,S.
  TITLE     Very Long-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   20301763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000399.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 20, 2018 this sequence version replaced NM_000018.3.
            
            Summary: The protein encoded by this gene is targeted to the inner
            mitochondrial membrane where it catalyzes the first step of the
            mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme
            A dehydrogenase is specific to long-chain and very-long-chain fatty
            acids. A deficiency in this gene product reduces myocardial fatty
            acid beta-oxidation and is associated with cardiomyopathy.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes 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 :: BC000399.2, SRR3476690.1110131.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000356839.10/
                                                  ENSP00000349297.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2184              BC000399.2         46-2229
FEATURES             Location/Qualifiers
     source          1..2184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2184
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="acyl-CoA dehydrogenase very long chain"
                     /db_xref="GeneID:37"
                     /db_xref="HGNC:HGNC:92"
                     /db_xref="MIM:609575"
     exon            1..109
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..2015
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /EC_number="1.3.8.9"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; acyl-Coenzyme A dehydrogenase, very long chain;
                     very long-chain specific acyl-CoA dehydrogenase,
                     mitochondrial"
                     /codon_start=1
                     /product="very long-chain specific acyl-CoA dehydrogenase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000009.1"
                     /db_xref="CCDS:CCDS11090.1"
                     /db_xref="GeneID:37"
                     /db_xref="HGNC:HGNC:92"
                     /db_xref="MIM:609575"
                     /translation="MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGA
                     AQLALDKSDSHPSDALTRKKPAKAESKSFAVGMFKGQLTTDQVFPYPSVLNEEQTQFL
                     KELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQY
                     ARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTE
                     PSSGSDAASIRTSAVPSPCGKYYTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVK
                     EKITAFVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAM
                     HILNNGRFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYV
                     TESMAYMVSANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVER
                     VLRDLRIFRIFEGTNDILRLFVALQGCMDKGKELSGLGSALKNPFGNAGLLLGEAGKQ
                     LRRRAGLGSGLSLSGLVHPELSRSGELAVRALEQFATVVEAKLIKHKKGIVNEQFLLQ
                     RLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEKMLCDTWCIEAAARIREGMAALQSD
                     PWQQELYRNFKSISKALVERGGVVTSNPLGF"
     exon            110..185
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            186..251
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            252..324
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            325..389
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            390..524
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            525..669
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            670..799
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            800..925
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1124
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1229
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1316
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1379
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1481
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1482..1579
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1580..1652
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1653..1725
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1726..1798
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1799..1874
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1875..2184
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2163..2168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="hexamer: AATAAA"
     polyA_site      2184
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="major polyA site"
ORIGIN      
        1 agagctgggt cagagctcga gccagcggcg cccggagaga ttcggagatg caggcggctc
       61 ggatggccgc gagcttgggg cggcagctgc tgaggctcgg gggcggaagc tcgcggctca
      121 cggcgctcct ggggcagccc cggcccggcc ctgcccggcg gccctatgcc gggggtgccg
      181 ctcagctggc tctggacaag tcagattccc acccctctga cgctctgacc aggaaaaaac
      241 cggccaaggc ggaatctaag tcctttgctg tgggaatgtt caaaggccag ctcaccacag
      301 atcaggtgtt cccatacccg tccgtgctca acgaagagca gacacagttt cttaaagagc
      361 tggtggagcc tgtgtcccgt ttcttcgagg aagtgaacga tcccgccaag aatgacgctc
      421 tggagatggt ggaggagacc acttggcagg gcctcaagga gctgggggcc tttggtctgc
      481 aagtgcccag tgagctgggt ggtgtgggcc tttgcaacac ccagtacgcc cgtttggtgg
      541 agatcgtggg catgcatgac cttggcgtgg gcattaccct gggggcccat cagagcatcg
      601 gtttcaaagg catcctgctc tttggcacaa aggcccagaa agaaaaatac ctccccaagc
      661 tggcatctgg ggagactgtg gccgctttct gtctaaccga gccctcaagc gggtcagatg
      721 cagcctccat ccgaacctct gctgtgccca gcccctgtgg aaaatactat accctcaatg
      781 gaagcaagct ttggatcagt aatgggggcc tagcagacat cttcacggtc tttgccaaga
      841 caccagttac agatccagcc acaggagccg tgaaggagaa gatcacagct tttgtggtgg
      901 agaggggctt cgggggcatt acccatgggc cccctgagaa gaagatgggc atcaaggctt
      961 caaacacagc agaggtgttc tttgatggag tacgggtgcc atcggagaac gtgctgggtg
     1021 aggttgggag tggcttcaag gttgccatgc acatcctcaa caatggaagg tttggcatgg
     1081 ctgcggccct ggcaggtacc atgagaggca tcattgctaa ggcggtagat catgccacta
     1141 atcgtaccca gtttggggag aaaattcaca actttgggct gatccaggag aagctggcac
     1201 ggatggttat gctgcagtat gtaactgagt ccatggctta catggtgagt gctaacatgg
     1261 accagggagc cacggacttc cagatagagg ccgccatcag caaaatcttt ggctcggagg
     1321 cagcctggaa ggtgacagat gaatgcatcc aaatcatggg gggtatgggc ttcatgaagg
     1381 aacctggagt agagcgtgtg ctccgagatc ttcgcatctt ccggatcttt gaggggacaa
     1441 atgacattct tcggctgttt gtggctctgc agggctgtat ggacaaagga aaggagctct
     1501 ctgggcttgg cagtgctcta aagaatccct ttgggaatgc tggcctcctg ctaggagagg
     1561 caggcaaaca gctgaggcgg cgggcagggc tgggcagcgg cctgagtctc agcggacttg
     1621 tccacccgga gttgagtcgg agtggcgagc tggcagtacg ggctctggag cagtttgcca
     1681 ctgtggtgga ggccaagctg ataaaacaca agaaggggat tgtcaatgaa cagtttctgc
     1741 tgcagcggct ggcagacggg gccatcgacc tctatgccat ggtggtggtt ctctcgaggg
     1801 cctcaagatc cctgagtgag ggccacccca cggcccagca tgagaaaatg ctctgtgaca
     1861 cctggtgtat cgaggctgca gctcggatcc gagagggcat ggccgccctg cagtctgacc
     1921 cctggcagca agagctctac cgcaacttca aaagcatctc caaggccttg gtggagcggg
     1981 gtggtgtggt caccagcaac ccacttggct tctgaatact cccggccagg gcctgtccca
     2041 gttatgtgcc ttccctcaag ccaaagccga agcccctttc cttaaggccc tggtttgtcc
     2101 cgaaggggcc tagtgttccc agcactgtgc ctgctctcaa gagcacttac tgcctcgcaa
     2161 ataataaaaa tttctagcca gtca
//
