LOCUS       NM_014049               2445 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens acyl-CoA dehydrogenase family member 9 (ACAD9),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_014049
VERSION     NM_014049.5
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 2445)
  AUTHORS   Brauer,N., Maruta,Y., Lisci,M., Strege,K., Oschlies,I.,
            Nakamura,H., Bohm,S., Lehmberg,K., Brandhoff,L., Ehl,S.,
            Parvaneh,N., Klapper,W., Fukuda,M., Griffiths,G.M., Hennies,H.C.,
            Niehues,T. and Ammann,S.
  TITLE     Immunodeficiency with susceptibility to lymphoma with complex
            genotype affecting energy metabolism (FBP1, ACAD9) and vesicle
            trafficking (RAB27A)
  JOURNAL   Front Immunol 14, 1151166 (2023)
   PUBMED   37388727
  REMARK    GeneRIF: Immunodeficiency with susceptibility to lymphoma with
            complex genotype affecting energy metabolism (FBP1, ACAD9) and
            vesicle trafficking (RAB27A).
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2445)
  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   3  (bases 1 to 2445)
  AUTHORS   Carroll,J., He,J., Ding,S., Fearnley,I.M. and Walker,J.E.
  TITLE     TMEM70 and TMEM242 help to assemble the rotor ring of human ATP
            synthase and interact with assembly factors for complex I
  JOURNAL   Proc Natl Acad Sci U S A 118 (13) (2021)
   PUBMED   33753518
REFERENCE   4  (bases 1 to 2445)
  AUTHORS   Formosa,L.E., Muellner-Wong,L., Reljic,B., Sharpe,A.J.,
            Jackson,T.D., Beilharz,T.H., Stojanovski,D., Lazarou,M.,
            Stroud,D.A. and Ryan,M.T.
  TITLE     Dissecting the Roles of Mitochondrial Complex I Intermediate
            Assembly Complex Factors in the Biogenesis of Complex I
  JOURNAL   Cell Rep 31 (3), 107541 (2020)
   PUBMED   32320651
REFERENCE   5  (bases 1 to 2445)
  AUTHORS   Leipnitz,G., Mohsen,A.W., Karunanidhi,A., Seminotti,B.,
            Roginskaya,V.Y., Markantone,D.M., Grings,M., Mihalik,S.J., Wipf,P.,
            Van Houten,B. and Vockley,J.
  TITLE     Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic
            reticulum-mitochondria crosstalk, and reactive oxygen species in
            fibroblasts from patients with complex I deficiency
  JOURNAL   Sci Rep 8 (1), 1165 (2018)
   PUBMED   29348607
  REMARK    GeneRIF: Mutations in the ND6, NDUFV1 or ACAD9 genes are
            responsible for the mitochondrial complex I deficiency.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2445)
  AUTHORS   He,M., Rutledge,S.L., Kelly,D.R., Palmer,C.A., Murdoch,G.,
            Majumder,N., Nicholls,R.D., Pei,Z., Watkins,P.A. and Vockley,J.
  TITLE     A new genetic disorder in mitochondrial fatty acid beta-oxidation:
            ACAD9 deficiency
  JOURNAL   Am J Hum Genet 81 (1), 87-103 (2007)
   PUBMED   17564966
  REMARK    GeneRIF: We now report three cases of ACAD9 deficiency.
REFERENCE   7  (bases 1 to 2445)
  AUTHORS   Oey,N.A., Ruiter,J.P., Ijlst,L., Attie-Bitach,T., Vekemans,M.,
            Wanders,R.J. and Wijburg,F.A.
  TITLE     Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA
            dehydrogenase in human embryonic and fetal brain
  JOURNAL   Biochem Biophys Res Commun 346 (1), 33-37 (2006)
   PUBMED   16750164
  REMARK    GeneRIF: acyl-CoA dehydrogenase 9 (ACAD 9)was identified as the
            long-chain ACAD in human embryonic and fetal brain and central
            nervous tissue, using in situ hybridization as well as enzymatic
            studies
REFERENCE   8  (bases 1 to 2445)
  AUTHORS   Ensenauer,R., He,M., Willard,J.M., Goetzman,E.S., Corydon,T.J.,
            Vandahl,B.B., Mohsen,A.W., Isaya,G. and Vockley,J.
  TITLE     Human acyl-CoA dehydrogenase-9 plays a novel role in the
            mitochondrial beta-oxidation of unsaturated fatty acids
  JOURNAL   J Biol Chem 280 (37), 32309-32316 (2005)
   PUBMED   16020546
  REMARK    GeneRIF: ACAD9 may play a role in the turnover of lipid membrane
            unsaturated fatty acids that are essential for membrane integrity
            and structure
REFERENCE   9  (bases 1 to 2445)
  AUTHORS   Oey,N.A., den Boer,M.E., Ruiter,J.P., Wanders,R.J., Duran,M.,
            Waterham,H.R., Boer,K., van der Post,J.A. and Wijburg,F.A.
  TITLE     High activity of fatty acid oxidation enzymes in human placenta:
            implications for fetal-maternal disease
  JOURNAL   J Inherit Metab Dis 26 (4), 385-392 (2003)
   PUBMED   12971426
  REMARK    GeneRIF: Very high activity of CPT2 and VCLAD, involved in the
            metabolism of long-chain fatty acids. Fatty acid oxidation may play
            role in energy generation in placenta, and deficiency in may result
            in placental dysfunction and gestational complications.
REFERENCE   10 (bases 1 to 2445)
  AUTHORS   Zhang,J., Zhang,W., Zou,D., Chen,G., Wan,T., Zhang,M. and Cao,X.
  TITLE     Cloning and functional characterization of ACAD-9, a novel member
            of human acyl-CoA dehydrogenase family
  JOURNAL   Biochem Biophys Res Commun 297 (4), 1033-1042 (2002)
   PUBMED   12359260
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA630022.1, BC013354.2 and
            BC007970.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014049.4.
            
            Summary: This gene encodes a member of the acyl-CoA dehydrogenase
            family. Members of this family of proteins localize to the
            mitochondria and catalyze the rate-limiting step in the
            beta-oxidation of fatty acyl-CoA. The encoded protein is
            specifically active toward palmitoyl-CoA and long-chain unsaturated
            substrates. Mutations in this gene cause acyl-CoA dehydrogenase
            family member type 9 deficiency. Alternate splicing results in
            multiple transcript variants.[provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            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 :: BC007970.2, SRR1803614.183932.1
                                           [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                 :: ENST00000308982.12/
                                                  ENSP00000312618.7
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                DA630022.1         131-146
            17-2427             BC013354.2         1-2411
            2428-2445           BC007970.2         2435-2452
FEATURES             Location/Qualifiers
     source          1..2445
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     gene            1..2445
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /note="acyl-CoA dehydrogenase family member 9"
                     /db_xref="GeneID:28976"
                     /db_xref="HGNC:HGNC:21497"
                     /db_xref="MIM:611103"
     exon            1..222
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1938
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /EC_number="1.3.8.-"
                     /note="isoform 1 is encoded by transcript variant 1;
                     acyl-Coenzyme A dehydrogenase family, member 9;
                     very-long-chain acyl-CoA dehydrogenase VLCAD; complex I
                     assembly factor ACAD9, mitochondrial"
                     /codon_start=1
                     /product="complex I assembly factor ACAD9, mitochondrial
                     isoform 1"
                     /protein_id="NP_054768.2"
                     /db_xref="CCDS:CCDS3053.1"
                     /db_xref="GeneID:28976"
                     /db_xref="HGNC:HGNC:21497"
                     /db_xref="MIM:611103"
                     /translation="MSGCGLFLRTTAAARACRGLVVSTANRRLLRTSPPVRAFAKELF
                     LGKIKKKEVFPFPEVSQDELNEINQFLGPVEKFFTEEVDSRKIDQEGKIPDETLEKLK
                     SLGLFGLQVPEEYGGLGFSNTMYSRLGEIISMDGSITVTLAAHQAIGLKGIILAGTEE
                     QKAKYLPKLASGEHIAAFCLTEPASGSDAASIRSRATLSEDKKHYILNGSKVWITNGG
                     LANIFTVFAKTEVVDSDGSVKDKITAFIVERDFGGVTNGKPEDKLGIRGSNTCEVHFE
                     NTKIPVENILGEVGDGFKVAMNILNSGRFSMGSVVAGLLKRLIEMTAEYACTRKQFNK
                     RLSEFGLIQEKFALMAQKAYVMESMTYLTAGMLDQPGFPDCSIEAAMVKVFSSEAAWQ
                     CVSEALQILGGLGYTRDYPYERILRDTRILLIFEGTNEILRMYIALTGLQHAGRILTT
                     RIHELKQAKVSTVMDTVGRRLRDSLGRTVDLGLTGNHGVVHPSLADSANKFEENTYCF
                     GRTVETLLLRFGKTIMEEQLVLKRVANILINLYGMTAVLSRASRSIRIGLRNHDHEVL
                     LANTFCVEAYLQNLFSLSQLDKYAPENLDEQIKKVSQQILEKRAYICAHPLDRTC"
     exon            223..316
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            317..418
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            419..525
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            526..626
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            627..705
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            706..880
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            881..954
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1030
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1101
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1221
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1350
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1430
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1557
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            1558..1635
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1764
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            1765..1837
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     exon            1838..2445
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2326..2331
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /note="hexamer: AAGAAA"
     polyA_site      2345
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /note="major polyA site"
     regulatory      2408..2413
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /note="hexamer: AACAAA"
     regulatory      2417..2422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /note="hexamer: TATAAA"
     polyA_site      2428
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /note="major polyA site"
     polyA_site      2445
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /note="major polyA site"
ORIGIN      
        1 atcagacgtg tgtgtgtccc tgcggcgcta agaaggggag actgaggctg aggctgggga
       61 acatcgggca gcatgagcgg ctgcgggctc ttcctgcgca ccacggctgc ggctcgtgcc
      121 tgccggggtc tggtggtctc taccgcgaac cggcggctac tgcgcaccag cccgcctgta
      181 cgagctttcg ccaaagagct tttcctaggc aaaatcaaga agaaagaagt tttcccattt
      241 ccagaagtta gccaagatga acttaatgaa atcaatcagt tcttgggacc cgtggaaaaa
      301 ttcttcactg aagaggtgga ctcccgaaaa attgaccagg aagggaaaat cccagatgaa
      361 actttggaga aattgaagag cctagggctt tttgggctgc aagtcccaga agaatatggt
      421 ggcctgggct tctccaacac catgtactca agactagggg agatcatcag catggatggg
      481 tccatcactg tgaccctggc agcgcaccag gctattggcc tcaaggggat catcttggct
      541 ggcactgagg agcagaaagc caaatacttg cctaaactgg cgtccgggga gcacattgca
      601 gccttctgcc tcacggagcc agccagtggg agcgatgcag cctcaatccg gagcagagcc
      661 acactaagtg aagacaagaa gcactacatc ctcaatggct ccaaggtctg gattactaat
      721 ggaggactgg ccaatatttt tactgtgttt gcaaagactg aggtcgttga ttctgatgga
      781 tcagtgaaag acaaaatcac agcattcata gtagaaagag actttggtgg agtcactaat
      841 gggaaacccg aagataaatt aggcattcgg ggctccaaca cttgtgaagt ccattttgaa
      901 aacaccaaga tacctgtgga aaacatcctt ggagaggtcg gagatgggtt taaggtggcc
      961 atgaacatcc tcaacagcgg ccggttcagc atgggcagcg tcgtggctgg gctgctcaag
     1021 agattgattg aaatgactgc tgagtacgcc tgcacaagga aacagtttaa caagaggctc
     1081 agtgaatttg gattgattca ggagaaattt gcactgatgg ctcagaaggc ttacgtcatg
     1141 gagagtatga cctacctcac agcagggatg ctggaccaac ctggctttcc cgactgctcc
     1201 atcgaggcag ccatggtgaa ggtgttcagc tccgaggccg cctggcagtg tgtgagtgag
     1261 gcgctgcaga tcctcggggg cttgggctac acaagggact atccgtacga gcgcatactg
     1321 cgtgacaccc gcatcctcct catcttcgag ggaaccaatg agattctccg gatgtacatc
     1381 gccctgacgg gtctgcagca tgccggccgc atcctgacta ccaggatcca tgagcttaaa
     1441 caggccaaag tgagcacagt catggatacc gttggccgga ggcttcggga ctccctgggc
     1501 cgaactgtgg acctggggct gacaggcaac catggagttg tgcaccccag tcttgcggac
     1561 agtgccaaca agtttgagga gaacacctac tgcttcggcc ggaccgtgga gacactgctg
     1621 ctccgctttg gcaagaccat catggaggag cagctggtac tgaagcgggt ggccaacatc
     1681 ctcatcaacc tgtatggcat gacggccgtg ctgtcgcggg ccagccgctc catccgcatt
     1741 gggctccgca accacgacca cgaggttctc ttggccaaca ccttctgcgt ggaagcttac
     1801 ttgcagaatc tcttcagcct ctctcagctg gacaagtatg ctccagaaaa cctagatgag
     1861 cagattaaga aagtgtccca gcagatcctt gagaagcgag cctatatctg tgcccaccct
     1921 ctggacagga catgctgagg caggggacag tgtcccctgc taccgcccgc ccctacccat
     1981 ggcccgttgc tggatgactg ttactctttt ttcagaaggt gttgggatta tcacaggtta
     2041 agccttttgt tccccgtctg cacctgaagg gttgtcgcct ggcctgggag agcctcttcc
     2101 aggttttgac ctgcaggcag tgctctctaa caggaccatc acagcttctg aactgagccg
     2161 gagagagaga atggaattgc tgacccctgg aactggcggg tattctggtc attgaggaga
     2221 caccatagtg gaaactgggg cttatgctgc tgcctccagg gtgtgaggtg ggtggggacc
     2281 tgtgtcaggt gtggatagcc atttctgctc aaccacacat tctctaagaa acagcttgaa
     2341 agctctgtct gggtcattca tttaaactag aagcagaggc acttaaaaca tgtaccagga
     2401 accatttaac aaagaatata aaatgtcaca atctgtgtac tgtta
//
