LOCUS       NM_004453               3111 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens electron transfer flavoprotein dehydrogenase (ETFDH),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_004453
VERSION     NM_004453.4
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 3111)
  AUTHORS   Lin,C.Y., Liang,W.C., Yu,Y.C., Chang,S.C., Lai,M.C. and Jong,Y.J.
  TITLE     ETFDH mutation involves excessive apoptosis and neurite outgrowth
            defect via Bcl2 pathway
  JOURNAL   Sci Rep 14 (1), 25374 (2024)
   PUBMED   39455656
  REMARK    GeneRIF: ETFDH mutation involves excessive apoptosis and neurite
            outgrowth defect via Bcl2 pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3111)
  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 3111)
  AUTHORS   Beites,T., Jansen,R.S., Wang,R., Jinich,A., Rhee,K.Y.,
            Schnappinger,D. and Ehrt,S.
  TITLE     Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium
            tuberculosis in vitro and during infection
  JOURNAL   Nat Commun 12 (1), 6593 (2021)
   PUBMED   34782606
  REMARK    GeneRIF: Multiple acyl-CoA dehydrogenase deficiency kills
            Mycobacterium tuberculosis in vitro and during infection.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3111)
  AUTHORS   Zhou,D., Ye,M., Hu,Z., Zhang,Y., Zhu,L., Yang,R. and Huang,X.
  TITLE     Screening of multiple acyl-CoA dehydrogenase deficiency in newborns
            and follow-up of patients
  JOURNAL   Zhejiang Da Xue Xue Bao Yi Xue Ban 50 (4), 454-462 (2021)
   PUBMED   34704421
  REMARK    GeneRIF: Screening of multiple acyl-CoA dehydrogenase deficiency in
            newborns and follow-up of patients.
REFERENCE   5  (bases 1 to 3111)
  AUTHORS   Gempel,K., Topaloglu,H., Talim,B., Schneiderat,P., Schoser,B.G.,
            Hans,V.H., Palmafy,B., Kale,G., Tokatli,A., Quinzii,C., Hirano,M.,
            Naini,A., DiMauro,S., Prokisch,H., Lochmuller,H. and Horvath,R.
  TITLE     The myopathic form of coenzyme Q10 deficiency is caused by
            mutations in the electron-transferring-flavoprotein dehydrogenase
            (ETFDH) gene
  JOURNAL   Brain 130 (Pt 8), 2037-2044 (2007)
   PUBMED   17412732
  REMARK    GeneRIF: patients had autosomal recessive mutations in ETFDH,
            suggesting ETFDH deficiency leads to a secondary CoQ10 deficiency;
            results indicate that the late-onset form of glutaric aciduria type
            II & the myopathic form of CoQ10 deficiency are allelic diseases
REFERENCE   6  (bases 1 to 3111)
  AUTHORS   Simkovic,M., Degala,G.D., Eaton,S.S. and Frerman,F.E.
  TITLE     Expression of human electron transfer flavoprotein-ubiquinone
            oxidoreductase from a baculovirus vector: kinetic and spectral
            characterization of the human protein
  JOURNAL   Biochem J 364 (Pt 3), 659-667 (2002)
   PUBMED   12049629
  REMARK    GeneRIF: expression from a baculovirus vector and kinetic and
            spectral characteristics
REFERENCE   7  (bases 1 to 3111)
  AUTHORS   White,R.A., Dowler,L.L., Angeloni,S.V. and Koeller,D.M.
  TITLE     Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13:
            the mouse homologs of genes responsible for glutaric acidemia type
            II in human
  JOURNAL   Genomics 33 (1), 131-134 (1996)
   PUBMED   8617498
REFERENCE   8  (bases 1 to 3111)
  AUTHORS   Goodman,S.I., Axtell,K.M., Bindoff,L.A., Beard,S.E., Gill,R.E. and
            Frerman,F.E.
  TITLE     Molecular cloning and expression of a cDNA encoding human electron
            transfer flavoprotein-ubiquinone oxidoreductase
  JOURNAL   Eur J Biochem 219 (1-2), 277-286 (1994)
   PUBMED   8306995
REFERENCE   9  (bases 1 to 3111)
  AUTHORS   Prasun,P.
  TITLE     Multiple Acyl-CoA Dehydrogenase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32550677
REFERENCE   10 (bases 1 to 3111)
  AUTHORS   Goodman,S.I., Bemelen,K.F. and Frerman,F.E.
  TITLE     Human cDNA encoding ETF dehydrogenase (ETF:ubiquinone
            oxido-reductase), and mutations in glutaric acidemia type II
  JOURNAL   Prog Clin Biol Res 375, 567-572 (1992)
   PUBMED   1438400
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA798232.1, BX957055.1,
            BC011890.1, AK293737.1 and AC107219.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004453.3.
            
            Summary: This gene encodes a component of the electron-transfer
            system in mitochondria and is essential for electron transfer from
            a number of mitochondrial flavin-containing dehydrogenases to the
            main respiratory chain. Mutations in this gene are associated with
            glutaric acidemia. Alternatively spliced transcript variants that
            encode distinct isoforms have been observed. [provided by RefSeq,
            Aug 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (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 :: SRR1803611.176600.1,
                                           SRR1660803.223499.1 [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                 :: ENST00000511912.6/
                                                  ENSP00000426638.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DA798232.1         196-198
            4-617               BX957055.1         1-614
            618-2149            BC011890.1         615-2146
            2150-2201           AK293737.1         1886-1937
            2202-3111           AC107219.5         73421-74330
FEATURES             Location/Qualifiers
     source          1..3111
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     gene            1..3111
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /note="electron transfer flavoprotein dehydrogenase"
                     /db_xref="GeneID:2110"
                     /db_xref="HGNC:HGNC:3483"
                     /db_xref="MIM:231675"
     exon            1..195
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     CDS             162..2015
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /EC_number="1.5.5.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; ETF-ubiquinone oxidoreductase; ETF
                     dehydrogenase; electron transfer flavoprotein-ubiquinone
                     oxidoreductase, mitochondrial; ETF-QO;
                     electron-transferring-flavoprotein dehydrogenase; mutant
                     electron transfer flavoprotein dehydrogenase"
                     /codon_start=1
                     /product="electron transfer flavoprotein-ubiquinone
                     oxidoreductase, mitochondrial isoform 1 precursor"
                     /protein_id="NP_004444.2"
                     /db_xref="CCDS:CCDS3800.1"
                     /db_xref="GeneID:2110"
                     /db_xref="HGNC:HGNC:3483"
                     /db_xref="MIM:231675"
                     /translation="MLVPLAKLSCLAYQCFHALKIKKNYLPLCATRWSSTSTVPRITT
                     HYTIYPRDKDKRWEGVNMERFAEEADVVIVGAGPAGLSAAVRLKQLAVAHEKDIRVCL
                     VEKAAQIGAHTLSGACLDPGAFKELFPDWKEKGAPLNTPVTEDRFGILTEKYRIPVPI
                     LPGLPMNNHGNYIVRLGHLVSWMGEQAEALGVEVYPGYAAAEVLFHDDGSVKGIATND
                     VGIQKDGAPKATFERGLELHAKVTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLK
                     ELWVIDEKNWKPGRVDHTVGWPLDRHTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYL
                     SPFREFQRWKHHPSIRPTLEGGKRIAYGARALNEGGFQSIPKLTFPGGLLIGCSPGFM
                     NVPKIKGTHTAMKSGILAAESIFNQLTSENLQSKTIGLHVTEYEDNLKNSWVWKELYS
                     VRNIRPSCHGVLGVYGGMIYTGIFYWILRGMEPWTLKHKGSDFERLKPAKDCTPIEYP
                     KPDGQISFDLLSSVALSGTNHEHDQPAHLTLRDDSIPVNRNLSIYDGPEQRFCPAGVY
                     EFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGGGGPAYNGM"
     exon            196..336
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            337..566
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            567..648
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            649..767
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            768..845
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            846..992
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1133
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1277
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1446
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            1447..1629
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            1630..1851
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..3111
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2136..2141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /note="hexamer: AATAAA"
     polyA_site      2160
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /note="major polyA site"
     regulatory      2315..2320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /note="hexamer: TATAAA"
     polyA_site      2330
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
     regulatory      2697..2702
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
                     /note="hexamer: AATAAT"
     polyA_site      2723
                     /gene="ETFDH"
                     /gene_synonym="ETFQO; MADD"
ORIGIN      
        1 gtgaagcaag agcggtcggc agagcgggga ggcgaactgc agcagagttc ttgctttccg
       61 gcaggtgatg gcgccccccg cggcctagag gtccagcgcc cgccgcgagc agcggacagt
      121 cctcctgttg tgtccgaccg agagtcctgg tgactttgaa catgctggtg ccgctagcca
      181 agctgtcctg cctggcatat cagtgctttc atgccttaaa aattaagaaa aattatctac
      241 ctctatgtgc tacaagatgg tcttcaactt ctactgtgcc tcgaattact acccattata
      301 ctatttatcc ccgggataag gacaagagat gggaaggagt gaacatggaa aggtttgcag
      361 aagaagcaga tgttgtaata gttggtgcag gccctgcagg gctctctgca gctgttcgtc
      421 taaaacagtt ggctgtggca catgaaaagg acatccgtgt gtgtctagtg gagaaagctg
      481 cccagatagg agctcatact ctctcagggg cttgccttga tccaggtgct tttaaagaac
      541 tcttcccaga ctggaaagag aagggggctc cacttaacac tcctgtaaca gaagacagat
      601 ttggaatttt aacagagaaa tacagaattc ctgtgccaat tcttccaggg cttccaatga
      661 ataatcatgg caattacatt gtacgcttgg gacatttagt gagctggatg ggcgaacaag
      721 cagaagccct tggtgttgaa gtataccctg gttatgcagc tgctgaggtc ctttttcatg
      781 atgatggtag tgtaaaagga attgccacta acgatgtagg gatacaaaag gatggtgcac
      841 caaaggcaac atttgagaga ggactggaac tacatgctaa agtcacaatt tttgcagaag
      901 gttgccatgg acatctagcc aagcaactat ataagaagtt tgatttgaga gcaaattgtg
      961 aacctcaaac ctacgggatt ggactgaagg agttatgggt tattgatgaa aagaactgga
     1021 aacctgggag agtagatcac actgttggtt ggcccttgga cagacatacc tatggaggat
     1081 ctttcctcta tcatttgaat gaaggtgaac ccctagtagc tcttggtctt gtggttggtc
     1141 tagactatca gaatccatac ctgagtccat ttagagagtt ccaaaggtgg aaacaccatc
     1201 ctagcattcg gccaaccttg gaaggtggaa aaaggattgc atacggagcc agagctctca
     1261 atgaaggtgg ctttcagtct ataccaaaac tcacctttcc tggtggttta ctaattggtt
     1321 gtagtcctgg ttttatgaat gttcccaaga tcaaaggtac tcacacagca atgaaaagtg
     1381 gaattttagc agcagaatct atttttaatc aactaactag tgaaaatctc caatcaaaga
     1441 caataggact ccatgtaact gaatatgagg acaatttgaa gaactcatgg gtatggaaag
     1501 agctatattc tgttagaaat ataagaccgt cctgccacgg agtactgggt gtatatggag
     1561 ggatgattta cactggaatc ttttactgga tattgagagg aatggagccg tggactctga
     1621 aacataaagg ttctgacttt gaacggctca agccagccaa ggattgcaca cctattgagt
     1681 atccaaaacc cgatggacag atcagttttg acctcttgtc atctgtggct ctgagtggta
     1741 ctaatcatga acatgaccag ccggcacact taaccttaag ggatgacagt atacctgtaa
     1801 atagaaatct gtcgatatat gatgggcccg agcagcgatt ctgtcctgca ggagtttatg
     1861 aatttgtacc tgtggaacaa ggtgatggat ttcggttaca gataaatgct cagaactgtg
     1921 tacattgtaa aacatgtgat attaaagatc caagtcagaa tattaactgg gtggtacctg
     1981 aaggtggagg aggacctgct tacaatggaa tgtaaactgc agctagccag tttctttcaa
     2041 gtatggcaag ctaacgttaa aatgtttaga gattaacaga tttcagaatg tctttctgca
     2101 tattactgaa cagaatagtc acaaaatgat tatcaaataa aaattttata ctatatgtaa
     2161 gattgtccca taaagaaatt acgggtattg cttttaaata acctttataa gaatgcagca
     2221 tcttcctacc tcttcagttc ttcagagatt cagtaccaag agcaaaattc actactggac
     2281 tttacatttg acttgccaaa gttaagtaat caaatataaa aatgaatata tattctagac
     2341 taaagtttta ttgaaacaca gccataccca ttggttacac attgtctatg gctaattttg
     2401 aattacaact gtgcaggtga gtgggtgtga cattacatgg tctacaaagc ctaaaaactt
     2461 tatgatctgg cccttgcaga agaagtatgc ccatccctga acaagtttgt gtgtgtgtgt
     2521 gtgtgtgtgt gtgtgtgtgt gtgtgtatta tctataagta tgaaaaccta gcatcatcca
     2581 ccatggatac atcaaagaat cgaaggaaac aatatacaaa cttaagctct catctcttta
     2641 ttcaataaga tgtgtcttta caagtttaaa aagactggac accattattt tttatgaata
     2701 atgcacataa ccattttaaa aaacatttta cttggccggg cacggtggct cacacctgta
     2761 atcccagcac tttgggaggc caaggcgggg tggatcacaa ggtcaggagt tcaagaccaa
     2821 cgtgacgtga ccaatatggt gaaaccccat ctctactaaa aatacaaaaa ttagctgggc
     2881 gtggtggcac gtgcctgtaa tcccagctac ttgggaagct gaggcaggag aattgcttga
     2941 acccgggagg cagaggatgc agtgagccga gattgcgcca ccgcactcca gcctgggtga
     3001 cagagcaaga ctccatctca aagaaacaaa caaaaccact ttacttactg tattgtgaca
     3061 tgtttattaa gcatgaaccc ctatcagtac tcctaaactg taaacagtaa g
//
