LOCUS       NM_000126               2289 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens electron transfer flavoprotein subunit alpha (ETFA),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000126
VERSION     NM_000126.4
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 2289)
  AUTHORS   He,Y., Jiang,Y., Wu,F., Zhang,X., Liang,S. and Ye,Z.
  TITLE     Platelet Microparticle-Derived MiR-320b Inhibits Hypertension with
            Atherosclerosis Development by Targeting ETFA
  JOURNAL   Int Heart J 65 (2), 329-338 (2024)
   PUBMED   38556340
  REMARK    GeneRIF: Platelet Microparticle-Derived MiR-320b Inhibits
            Hypertension with Atherosclerosis Development by Targeting ETFA.
REFERENCE   2  (bases 1 to 2289)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2289)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   4  (bases 1 to 2289)
  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   5  (bases 1 to 2289)
  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   6  (bases 1 to 2289)
  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   7  (bases 1 to 2289)
  AUTHORS   Freneaux,E., Sheffield,V.C., Molin,L., Shires,A. and Rhead,W.J.
  TITLE     Glutaric acidemia type II. Heterogeneity in beta-oxidation flux,
            polypeptide synthesis, and complementary DNA mutations in the alpha
            subunit of electron transfer flavoprotein in eight patients
  JOURNAL   J Clin Invest 90 (5), 1679-1686 (1992)
   PUBMED   1430199
REFERENCE   8  (bases 1 to 2289)
  AUTHORS   Indo,Y., Glassberg,R., Yokota,I. and Tanaka,K.
  TITLE     Molecular characterization of variant alpha-subunit of electron
            transfer flavoprotein in three patients with glutaric acidemia type
            II--and identification of glycine substitution for valine-157 in
            the sequence of the precursor, producing an unstable mature protein
            in a patient
  JOURNAL   Am J Hum Genet 49 (3), 575-580 (1991)
   PUBMED   1882842
REFERENCE   9  (bases 1 to 2289)
  AUTHORS   Finocchiaro,G., Ito,M., Ikeda,Y. and Tanaka,K.
  TITLE     Molecular cloning and nucleotide sequence of cDNAs encoding the
            alpha-subunit of human electron transfer flavoprotein
  JOURNAL   J Biol Chem 263 (30), 15773-15780 (1988)
   PUBMED   3170610
REFERENCE   10 (bases 1 to 2289)
  AUTHORS   Frerman,F.E.
  TITLE     Acyl-CoA dehydrogenases, electron transfer flavoprotein and
            electron transfer flavoprotein dehydrogenase
  JOURNAL   Biochem Soc Trans 16 (3), 416-418 (1988)
   PUBMED   3053288
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292979.1, AA557337.1,
            BG261160.1 and AC091100.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000126.3.
            
            Summary: ETFA participates in catalyzing the initial step of the
            mitochondrial fatty acid beta-oxidation. It shuttles electrons
            between primary flavoprotein dehydrogenases and the membrane-bound
            electron transfer flavoprotein ubiquinone oxidoreductase. Defects
            in electron-transfer-flavoprotein have been implicated in type II
            glutaricaciduria in which multiple acyl-CoA dehydrogenase
            deficiencies result in large excretion of glutaric, lactic,
            ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric
            acids. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: AK292979.1, SRR1803614.62452.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153946, SAMEA2155550
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000557943.6/
                                                  ENSP00000452762.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1298              AK292979.1         1-1298
            1299-1339           AA557337.1         1-41                c
            1340-1355           BG261160.1         344-359
            1356-2289           AC091100.14        3329-4262
FEATURES             Location/Qualifiers
     source          1..2289
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.2-q24.3"
     gene            1..2289
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="electron transfer flavoprotein subunit alpha"
                     /db_xref="GeneID:2108"
                     /db_xref="HGNC:HGNC:3481"
                     /db_xref="MIM:608053"
     exon            1..120
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..1083
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="isoform a is encoded by transcript variant 1;
                     glutaric aciduria II; electron transfer flavoprotein
                     subunit alpha, mitochondrial; electron transfer
                     flavoprotein, alpha polypeptide; electron transfer
                     flavoprotein alpha subunit; alpha-ETF; epididymis
                     secretory sperm binding protein; multiple acyl-CoA
                     dehydrogenase deficiency"
                     /codon_start=1
                     /product="electron transfer flavoprotein subunit alpha,
                     mitochondrial isoform a"
                     /protein_id="NP_000117.1"
                     /db_xref="CCDS:CCDS32299.1"
                     /db_xref="GeneID:2108"
                     /db_xref="HGNC:HGNC:3481"
                     /db_xref="MIM:608053"
                     /translation="MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAA
                     TRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQ
                     FNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCD
                     EKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVV
                     VSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYI
                     AVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK"
     exon            121..267
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            268..349
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            350..432
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            433..532
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            533..643
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            644..745
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            746..814
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            815..897
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            898..963
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1044
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..2289
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1320..1325
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="hexamer: AATAAA"
     polyA_site      1348
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="major polyA site"
     polyA_site      1382
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
     regulatory      1390..1395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="hexamer: AGTAAA"
     polyA_site      1410
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
     regulatory      2266..2271
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="hexamer: TATAAA"
     polyA_site      2289
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
ORIGIN      
        1 attaggtgac tggctgaggc ggcgccagtt ggccgggcac ggggctgctg taaggccgag
       61 gttgcggcgg aagcggagac catgttccga gcggcggctc cggggcagct ccggcgggcg
      121 gcctcattgc tacgatttca gagtaccctg gtaatagctg agcatgcaaa tgattcccta
      181 gcacccatta ctttaaatac cattactgca gccacacgcc ttggaggtga agtgtcctgc
      241 ttagtagctg gaaccaaatg tgacaaggtg gcacaagatc tctgtaaagt agcaggcata
      301 gcaaaagttc tggtggctca gcatgatgtg tacaaaggcc tacttccaga ggaactgaca
      361 ccattgattt tggcaactca gaagcagttc aattacacac acatctgtgc tggagcatct
      421 gccttcggaa agaacctttt gcccagagta gcagccaaac ttgaggttgc cccgatttct
      481 gacatcattg caatcaagtc acctgacaca tttgtgagaa ctatttatgc aggaaatgct
      541 ctatgtacag tgaagtgtga tgagaaagtg aaagtgtttt ctgtccgtgg aacatccttt
      601 gatgctgcag caacaagtgg cggtagtgcc agttcagaaa aggcatcaag tacttcacca
      661 gtggaaatat cagagtggct tgaccagaaa ttaacaaaaa gtgatcgacc agagctaaca
      721 ggtgccaaag tggtggtatc tggtggtcga ggcttgaaga gtggagagaa ctttaagttg
      781 ttatatgact tggcagatca actacatgct gcagttggtg cttcccgtgc tgctgttgat
      841 gctggctttg ttcccaatga catgcaagtt ggacagacgg gaaaaatagt agcaccagaa
      901 ctttatattg ctgttggaat atctggagcc atccaacatt tagctgggat gaaagacagc
      961 aagacaattg tggcaattaa taaagaccca gaagctccaa ttttccaagt ggcagattat
     1021 ggaatagttg cagatttatt taaggtagtt cctgaaatga ctgagatatt gaagaaaaaa
     1081 tgaatcagga tcatgcctta aaaagaaaac ttttgttaaa gtattccact gaaatcacag
     1141 atatttgtgg gtattataac aatcattgga aagcatggag agctacattt cataatttga
     1201 gggaaaattt ctaacagatg ccagaatgct tgtttatggg attgctgtgt ttccttttaa
     1261 ttatttgtgg ttccaaacaa ttattgtttg aactttttaa attctgtact aaaatctata
     1321 ataaagcttt tccacagctt taaaactatc agaaatatgc ctagcctcta gagaaaattg
     1381 aagaaaagga gtaaaaattt tgtttattta tttatttttt tgcctttctt gttcatggag
     1441 agctctatgt tttaggaaga ttgtaaacat gattgtctcc accagcctaa tcaacctact
     1501 aatctcattg ttgaagggca aacttcatag gagaaggtaa ctgaattggc aagtgcagag
     1561 ttaaaaaagc acggctataa agcatgaata ttatcttaaa catactccag tcttcagaag
     1621 accatagcta atgtgacaaa agcagacctg acttaaacct gacccagctc catgtattta
     1681 gttggcttaa ggtaaatttc attttccgtt taattttaag gttttgtcag tttataggac
     1741 ttttgtctgt aaaggaggga gagtggagga ggggctgctt tgagacagca tggcctctga
     1801 tgcaagcaga tagtttgatg ttattataaa cattcaaaat cctgtgcaga gaatgctcta
     1861 gcctttcttt tgccttctgt tggcttcttt tgggctctct taggaagcac ccaggcctgt
     1921 gtagtcacct ctggcactct cattctgctg cccagggcac agctgaggtc caagagtgtc
     1981 accagggctg cagctggtgt ggatgcaggc ccaagagcag aggctggtga ggctttgaac
     2041 aggcctgcag gaaggcgtgg gtaggtaggt gagtagaaca aagagggctg ccctcctgaa
     2101 tcagatctgc agaagtagga gtagtgacct ggatcaagca gacagtaggg aagagaaggg
     2161 aagtgataag tgatggaggt ggctagagtg cctttgtgtg accagcctgg ggcccttccc
     2221 cagctgacta gtgaaccctt tctgatttgt gtcacaatca gttgctataa aacactttta
     2281 aaagttgta
//
