LOCUS       NM_001985                872 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens electron transfer flavoprotein subunit beta (ETFB),
            transcript variant 1, mRNA.
ACCESSION   NM_001985
VERSION     NM_001985.3
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 872)
  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   2  (bases 1 to 872)
  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   3  (bases 1 to 872)
  AUTHORS   Husen,P., Nielsen,C., Martino,C.F. and Solov'yov,I.A.
  TITLE     Molecular Oxygen Binding in the Mitochondrial Electron Transfer
            Flavoprotein
  JOURNAL   J Chem Inf Model 59 (11), 4868-4879 (2019)
   PUBMED   31665600
  REMARK    GeneRIF: Molecular Oxygen Binding in the Mitochondrial Electron
            Transfer Flavoprotein.
REFERENCE   4  (bases 1 to 872)
  AUTHORS   Henriques,B.J., Lucas,T.G., Martins,E., Gaspar,A., Bandeira,A.,
            Nogueira,C., Brandao,O., Rocha,H., Vilarinho,L. and Gomes,C.M.
  TITLE     Molecular and Clinical Investigations on Portuguese Patients with
            Multiple acyl-CoA Dehydrogenase Deficiency
  JOURNAL   Curr Mol Med 19 (7), 487-493 (2019)
   PUBMED   31418342
  REMARK    GeneRIF: Molecular and Clinical Investigations on Portuguese
            Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
REFERENCE   5  (bases 1 to 872)
  AUTHORS   Augustin,P., Toplak,M., Fuchs,K., Gerstmann,E.C., Prassl,R.,
            Winkler,A. and Macheroux,P.
  TITLE     Oxidation of the FAD cofactor to the 8-formyl-derivative in human
            electron-transferring flavoprotein
  JOURNAL   J Biol Chem 293 (8), 2829-2840 (2018)
   PUBMED   29301933
  REMARK    GeneRIF: Data suggest that ETF (heterodimer of ETFA and ETFB)
            catalyzes irreversible and pH-dependent oxidation of 8alpha-methyl
            group of FAD to form to 8-formyl-FAD (8f-FAD).
REFERENCE   6  (bases 1 to 872)
  AUTHORS   Colombo,I., Finocchiaro,G., Garavaglia,B., Garbuglio,N.,
            Yamaguchi,S., Frerman,F.E., Berra,B. and DiDonato,S.
  TITLE     Mutations and polymorphisms of the gene encoding the beta-subunit
            of the electron transfer flavoprotein in three patients with
            glutaric acidemia type II
  JOURNAL   Hum Mol Genet 3 (3), 429-435 (1994)
   PUBMED   7912128
REFERENCE   7  (bases 1 to 872)
  AUTHORS   Antonacci,R., Colombo,I., Archidiacono,N., Volta,M., DiDonato,S.,
            Finocchiaro,G. and Rocchi,M.
  TITLE     Assignment of the gene encoding the beta-subunit of the
            electron-transfer flavoprotein (ETFB) to human chromosome 19q13.3
  JOURNAL   Genomics 19 (1), 177-179 (1994)
   PUBMED   8188225
REFERENCE   8  (bases 1 to 872)
  AUTHORS   Finocchiaro,G., Colombo,I., Garavaglia,B., Gellera,C.,
            Valdameri,G., Garbuglio,N. and Didonato,S.
  TITLE     cDNA cloning and mitochondrial import of the beta-subunit of the
            human electron-transfer flavoprotein
  JOURNAL   Eur J Biochem 213 (3), 1003-1008 (1993)
   PUBMED   8504797
REFERENCE   9  (bases 1 to 872)
  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 872)
  AUTHORS   Royal,V., Alberts,M.J., Pericak-Vance,M.A., Finocchiaro,G.,
            Bebout,J., Yamaoka,L., Hung,W.Y., Gaskell,P.C. and Roses,A.D.
  TITLE     RsaI RFLP for electron transport flavoprotein-beta(ETFB)
  JOURNAL   Nucleic Acids Res 19 (14), 4021 (1991)
   PUBMED   1677763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG399783.1, X71129.1 and
            BG281641.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001985.2.
            
            Summary: This gene encodes electron-transfer-flavoprotein, beta
            polypeptide, which shuttles electrons between primary flavoprotein
            dehydrogenases involved in mitochondrial fatty acid and amino acid
            catabolism and the membrane-bound electron transfer flavoprotein
            ubiquinone oxidoreductase. The gene deficiencies have been
            implicated in type II glutaricaciduria. Alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the shorter 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 :: SRR5189667.299848.1,
                                           SRR5189661.44691.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309244.9/ ENSP00000311930.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                BG399783.1         32-67
            37-870              X71129.1           2-835
            871-872             BG281641.1         720-721
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..872
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /note="electron transfer flavoprotein subunit beta"
                     /db_xref="GeneID:2109"
                     /db_xref="HGNC:HGNC:3482"
                     /db_xref="MIM:130410"
     exon            1..119
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..830
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     electron transfer flavoprotein, beta polypeptide;
                     electron-transferring-flavoprotein, beta polypeptide;
                     beta-ETF; electron transfer flavoprotein beta subunit"
                     /codon_start=1
                     /product="electron transfer flavoprotein subunit beta
                     isoform 1"
                     /protein_id="NP_001976.1"
                     /db_xref="CCDS:CCDS12828.1"
                     /db_xref="GeneID:2109"
                     /db_xref="HGNC:HGNC:3482"
                     /db_xref="MIM:130410"
                     /translation="MAELRVLVAVKRVIDYAVKIRVKPDRTGVVTDGVKHSMNPFCEI
                     AVEEAVRLKEKKLVKEVIAVSCGPAQCQETIRTALAMGADRGIHVEVPPAEAERLGPL
                     QVARVLAKLAEKEKVDLVLLGKQAIDDDCNQTGQMTAGFLDWPQGTFASQVTLEGDKL
                     KVEREIDGGLETLRLKLPAVVTADLRLNEPRYATLPNIMKAKKKKIEVIKPGDLGVDL
                     TSKLSVISVEDPPQRTAGVKVETTEDLVAKLKEIGRI"
     exon            120..278
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            279..437
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            438..500
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            501..659
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            660..872
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      849..854
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /note="hexamer: AATAAA"
     polyA_site      872
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /note="major polyA site"
ORIGIN      
        1 ggggcttctg gactgagccg ctgagggtgc gggctgaccc tgtaagtggc tgcggcggga
       61 agatggcgga gctgcgcgtg ctcgtagctg tcaagagggt catcgactac gccgtgaaga
      121 tccgagtgaa gcctgacagg accggtgtgg tcacggatgg tgtgaagcac tccatgaacc
      181 ccttctgtga gatcgcggtg gaggaggctg tgcggctcaa ggagaagaag ctggtgaagg
      241 aggtcatcgc cgtcagctgt gggcctgcac agtgccagga gacgattcgt accgccctgg
      301 ccatgggtgc agaccgaggt atccacgtgg aggtgccccc agcagaagca gaacgcttgg
      361 gtcccctgca ggtggctcgg gtcctggcca agctggcaga gaaggagaag gtggacctgg
      421 tgctgctggg caaacaggcc atcgatgatg actgtaacca gacagggcag atgacagctg
      481 gatttcttga ctggccacag ggcacattcg cctcccaggt gacgctggag ggggacaagt
      541 tgaaagtgga gcgggagatc gatgggggcc tggagaccct gcgcctgaag ctgccagctg
      601 tggtgacagc tgacctgagg ctcaacgagc cccgctacgc cacgctgccc aacatcatga
      661 aagccaagaa gaagaagatc gaggtgatca agcctgggga cctgggtgtg gacctgacct
      721 ccaagctctc tgtgatcagt gtggaggacc cgccccagcg cacggccggc gtcaaggtgg
      781 agaccactga ggacctggtg gccaagctga aggagattgg gcggatttga gcccctccca
      841 gagatggcaa taaaactgac tctcaacatc ta
//
