LOCUS       NM_000017               1859 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens acyl-CoA dehydrogenase short chain (ACADS), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000017
VERSION     NM_000017.4
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 1859)
  AUTHORS   Zhong,X., Li,Z., Xu,Q., Peng,H., Su,Y., Le,K., Shu,Z., Liao,Y.,
            Ma,Z., Pan,X., Xu,S. and Zhou,S.
  TITLE     Short-chain acyl-CoA dehydrogenase is a potential target for the
            treatment of vascular remodelling
  JOURNAL   J Hypertens 41 (5), 775-793 (2023)
   PUBMED   36883465
  REMARK    GeneRIF: Short-chain acyl-CoA dehydrogenase is a potential target
            for the treatment of vascular remodelling.
REFERENCE   2  (bases 1 to 1859)
  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 1859)
  AUTHORS   Wu,Q., Yan,T., Chen,Y., Chang,J., Jiang,Y., Zhu,D. and Wei,Y.
  TITLE     Integrated Analysis of Expression and Prognostic Values of Acyl-CoA
            Dehydrogenase short-chain in Colorectal Cancer
  JOURNAL   Int J Med Sci 18 (16), 3631-3643 (2021)
   PUBMED   34790035
  REMARK    GeneRIF: Integrated Analysis of Expression and Prognostic Values of
            Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1859)
  AUTHORS   Yang,C., Shi,C., Zhou,C., Wan,Q., Zhou,Y., Chen,X., Jin,X.,
            Huang,C. and Xu,P.
  TITLE     Screening and follow-up results of fatty acid oxidative metabolism
            disorders in 608 818 newborns in Jining, Shandong province
  JOURNAL   Zhejiang Da Xue Xue Bao Yi Xue Ban 50 (4), 472-480 (2021)
   PUBMED   34704412
  REMARK    GeneRIF: Screening and follow-up results of fatty acid oxidative
            metabolism disorders in 608 818 newborns in Jining, Shandong
            province.
REFERENCE   5  (bases 1 to 1859)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 1859)
  AUTHORS   Wolfe,L., Jethva,R., Oglesbee,D. and Vockley,J.
  TITLE     Short-Chain Acyl-CoA Dehydrogenase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21938826
REFERENCE   7  (bases 1 to 1859)
  AUTHORS   Hochstrasser,D.F., Frutiger,S., Paquet,N., Bairoch,A., Ravier,F.,
            Pasquali,C., Sanchez,J.C., Tissot,J.D., Bjellqvist,B., Vargas,R. et
            al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   8  (bases 1 to 1859)
  AUTHORS   Naito,E., Indo,Y. and Tanaka,K.
  TITLE     Identification of two variant short chain acyl-coenzyme A
            dehydrogenase alleles, each containing a different point mutation
            in a patient with short chain acyl-coenzyme A dehydrogenase
            deficiency
  JOURNAL   J Clin Invest 85 (5), 1575-1582 (1990)
   PUBMED   1692038
REFERENCE   9  (bases 1 to 1859)
  AUTHORS   Naito,E., Ozasa,H., Ikeda,Y. and Tanaka,K.
  TITLE     Molecular cloning and nucleotide sequence of complementary DNAs
            encoding human short chain acyl-coenzyme A dehydrogenase and the
            study of the molecular basis of human short chain acyl-coenzyme A
            dehydrogenase deficiency
  JOURNAL   J Clin Invest 83 (5), 1605-1613 (1989)
   PUBMED   2565344
REFERENCE   10 (bases 1 to 1859)
  AUTHORS   Finocchiaro,G., Ito,M. and Tanaka,K.
  TITLE     Purification and properties of short chain acyl-CoA, medium chain
            acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver
  JOURNAL   J Biol Chem 262 (17), 7982-7989 (1987)
   PUBMED   3597357
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB505221.1, BC025963.1 and
            M26393.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 20, 2018 this sequence version replaced NM_000017.3.
            
            Summary: This gene encodes a tetrameric mitochondrial flavoprotein,
            which is a member of the acyl-CoA dehydrogenase family. This enzyme
            catalyzes the initial step of the mitochondrial fatty acid
            beta-oxidation pathway. Mutations in this gene have been associated
            with short-chain acyl-CoA dehydrogenase (SCAD) deficiency.
            Alternative splicing results in two variants which encode different
            isoforms. [provided by RefSeq, Oct 2014].
            
            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 :: BC025963.1, SRR3476690.41816.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000242592.9/
                                                  ENSP00000242592.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-94                DB505221.1         92-185
            95-380              BC025963.1         82-367
            381-1540            M26393.1           353-1512
            1541-1825           BC025963.1         1528-1812
            1826-1858           M26393.1           1797-1829
            1859-1859           BC025963.1         1846-1846
FEATURES             Location/Qualifiers
     source          1..1859
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1859
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /note="acyl-CoA dehydrogenase short chain"
                     /db_xref="GeneID:35"
                     /db_xref="HGNC:HGNC:90"
                     /db_xref="MIM:606885"
     exon            1..106
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1299
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /EC_number="1.3.8.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; acyl-Coenzyme A dehydrogenase, C-2 to C-3 short
                     chain; short-chain specific acyl-CoA dehydrogenase,
                     mitochondrial; butyryl-CoA dehydrogenase; unsaturated
                     acyl-CoA reductase; mitochondrial short-chain specific
                     acyl-CoA dehydrogenase; acyl-CoA dehydrogenase, C-2 to C-3
                     short chain; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="short-chain specific acyl-CoA dehydrogenase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000008.1"
                     /db_xref="CCDS:CCDS9207.1"
                     /db_xref="GeneID:35"
                     /db_xref="HGNC:HGNC:90"
                     /db_xref="MIM:606885"
                     /translation="MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQT
                     CRDFAEKELFPIAAQVDKEHLFPAAQVKKMGGLGLLAMDVPEELGGAGLDYLAYAIAM
                     EEISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGNG
                     SDAGAASTTARAEGDSWVLNGTKAWITNAWEASAAVVFASTDRALQNKGISAFLVPMP
                     TPGLTLGKKEDKLGIRGSSTANLIFEDCRIPKDSILGEPGMGFKIAMQTLDMGRIGIA
                     SQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALALESARLLTWRAAML
                     KDNKKPFIKEAAMAKLAASEAATAISHQAIQILGGMGYVTEMPAERHYRDARITEIYE
                     GTSEIQRLVIAGHLLRSYRS"
     exon            107..270
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            271..420
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            421..532
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            533..684
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            685..855
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            856..993
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1089
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1146
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1859
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1839..1844
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /note="hexamer: AATAAA"
     polyA_site      1859
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /note="major polyA site"
ORIGIN      
        1 actccggaac agcgcgctcg cagcgggagg tcgcgaagcc tgggactgtg tctgtcgccc
       61 atggccgccg cgctgctcgc ccgggcctcg ggccctgccc gcagagctct ctgtcctagg
      121 gcctggcggc agttacacac catctaccag tctgtggaac tgcccgagac acaccagatg
      181 ttgctccaga catgccggga ctttgccgag aaggagttgt ttcccattgc agcccaggtg
      241 gataaggaac atctcttccc agcggctcag gtgaagaaga tgggcgggct tgggcttctg
      301 gccatggacg tgcccgagga gcttggcggt gctggcctcg attacctggc ctacgccatc
      361 gccatggagg agatcagccg tggctgcgcc tccaccggag tcatcatgag tgtcaacaac
      421 tctctctacc tggggcccat cttgaagttt ggctccaagg agcagaagca ggcgtgggtc
      481 acgcctttca ccagtggtga caaaattggc tgctttgccc tcagcgaacc agggaacggc
      541 agtgatgcag gagctgcgtc caccaccgcc cgggccgagg gcgactcatg ggttctgaat
      601 ggaaccaaag cctggatcac caatgcctgg gaggcttcgg ctgccgtggt ctttgccagc
      661 acggacagag ccctgcaaaa caagggcatc agtgccttcc tggtccccat gccaacgcct
      721 gggctcacgt tggggaagaa agaagacaag ctgggcatcc ggggctcatc cacggccaac
      781 ctcatctttg aggactgtcg catccccaag gacagcatcc tgggggagcc agggatgggc
      841 ttcaagatag ccatgcaaac cctggacatg ggccgcatcg gcatcgcctc ccaggccctg
      901 ggcattgccc agaccgccct cgattgtgct gtgaactacg ctgagaatcg catggccttc
      961 ggggcgcccc tcaccaagct ccaggtcatc cagttcaagt tggcagacat ggccctggcc
     1021 ctggagagtg cccggctgct gacctggcgc gctgccatgc tgaaggataa caagaagcct
     1081 ttcatcaagg aggcagccat ggccaagctg gccgcctcgg aggccgcgac cgccatcagc
     1141 caccaggcca tccagatcct gggcggcatg ggctacgtga cagagatgcc ggcagagcgg
     1201 cactaccgcg acgcccgcat cactgagatc tacgagggca ccagcgaaat ccagcggctg
     1261 gtgatcgccg ggcatctgct caggagctac cggagctgag cccgcggcgg actgccccag
     1321 gactgcggga aggcgcggga gccaggggcc tccaccccaa ccccggctca gagactgggc
     1381 ggcccggcgg gggctccctg gggaccccag atgggctcag tgctgccacc cagatcagat
     1441 cacatgggaa tgaggccctc cgaccattgg cagctccgcc tctgggcctt tccgcctcct
     1501 caccactgtg cctcaagttc ctcatctaag tggccctggc ctcctggggg cggggttgtg
     1561 ggggggctga gcgacactca gggacacctc agttgtcctc ccgcgggccc tggtgccctg
     1621 gcatgaaggc ccagtgcgac aggcccttgg tggggtctgt cttttccttg aggtcagagg
     1681 tcaggagcag ggctggggtc aggatgacga ggcctggggt cctggtgttg ggcaggtggt
     1741 ggggctgggc catggagctg gcccagaggc ccctcagccc tttgtaaagt ctgatgaagg
     1801 caggggtggt gattcatgct gtgtgactga ctgtgggtaa taaacacacc tgtccccca
//
