LOCUS       NM_001014763            1318 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens electron transfer flavoprotein subunit beta (ETFB),
            transcript variant 2, mRNA.
ACCESSION   NM_001014763
VERSION     NM_001014763.1
KEYWORDS    RefSeq.
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 1318)
  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 1318)
  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 1318)
  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 1318)
  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 1318)
  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 1318)
  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 1318)
  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 1318)
  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 1318)
  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 1318)
  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 AK055285.1, AF370381.1 and
            BG281641.1.
            
            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 (2) lacks the 5' exon but has an
            alternate 5' segment, as compared to variant 1. The encoded isoform
            (2) has a longer and distinct N-terminus compared to 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 :: SRR1163655.571283.1, AK055285.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1279              AK055285.1         3-1281
            1280-1286           AF370381.1         1262-1268
            1287-1318           BG281641.1         721-752
FEATURES             Location/Qualifiers
     source          1..1318
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..1318
                     /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..693
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     CDS             205..1245
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_001014763.1"
                     /db_xref="CCDS:CCDS33085.1"
                     /db_xref="GeneID:2109"
                     /db_xref="HGNC:HGNC:3482"
                     /db_xref="MIM:130410"
                     /translation="MYLSLWVTINTVNLRNTLSGLRGAVTTVGMIKSDVPGTQEWLDE
                     RRRQGDLPLPTNSNPVLSLELCDPGQGPAPFQAVVVLIQPGRGLALRPPPSCLFPPDP
                     TPSPPAGQIRVKPDRTGVVTDGVKHSMNPFCEIAVEEAVRLKEKKLVKEVIAVSCGPA
                     QCQETIRTALAMGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKVDLVLLGKQAI
                     DDDCNQTGQMTAGFLDWPQGTFASQVTLEGDKLKVEREIDGGLETLRLKLPAVVTADL
                     RLNEPRYATLPNIMKAKKKKIEVIKPGDLGVDLTSKLSVISVEDPPQRTAGVKVETTE
                     DLVAKLKEIGRI"
     exon            694..852
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            853..915
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1074
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     exon            1075..1301
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1264..1269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /note="hexamer: AATAAA"
     polyA_site      1287
                     /gene="ETFB"
                     /gene_synonym="FP585; MADD"
                     /note="major polyA site"
ORIGIN      
        1 aaagaacaaa aggcttctgt gctgggcagc ttgagttttc cccaggctgc tctattgttg
       61 cctgtagctg tgatttttca ggcaggctgc tcctctgagg accaccctta actgtctacc
      121 taactggttt ttccttttct tctcctcatt tgtatttatg tatcagtgta ttatgtattt
      181 atatacactt ggagatacag taaaatgtac ctctcactgt gggttaccat aaatactgta
      241 aatttgagaa acactctttc aggcctgaga ggagcagtga caacagtagg gatgatcaag
      301 tcagatgtcc ctggtaccca ggaatggctg gatgagagaa ggagacaggg tgacctgccc
      361 ctgcctacaa actctaaccc agttctgtcc ctggagctgt gtgaccccgg acaaggccct
      421 gcccctttcc aggctgtcgt tgtcctcatc cagcctggga gagggttggc gctgaggccc
      481 ccaccttctt gcctgtttcc tcctgacccc accccttccc ctcctgctgg gcagatccga
      541 gtgaagcctg acaggaccgg tgtggtcacg gatggtgtga agcactccat gaaccccttc
      601 tgtgagatcg cggtggagga ggctgtgcgg ctcaaggaga agaagctggt gaaggaggtc
      661 atcgccgtca gctgtgggcc tgcacagtgc caggagacga ttcgtaccgc cctggccatg
      721 ggtgcagacc gaggtatcca cgtggaggtg cccccagcag aagcagaacg cttgggtccc
      781 ctgcaggtgg ctcgggtcct ggccaagctg gcagagaagg agaaggtgga cctggtgctg
      841 ctgggcaaac aggccatcga tgatgactgt aaccagacag ggcagatgac agctggattt
      901 cttgactggc cacagggcac attcgcctcc caggtgacgc tggaggggga caagttgaaa
      961 gtggagcggg agatcgatgg gggcctggag accctgcgcc tgaagctgcc agctgtggtg
     1021 acagctgacc tgaggctcaa cgagccccgc tacgccacgc tgcccaacat catgaaagcc
     1081 aagaagaaga agatcgaggt gatcaagcct ggggacctgg gtgtggacct gacctccaag
     1141 ctctctgtga tcagtgtgga ggacccgccc cagcgcacgg ccggcgtcaa ggtggagacc
     1201 actgaggacc tggtggccaa gctgaaggag attgggcgga tttgagcccc tcccagagat
     1261 ggcaataaaa ctgactctca acatctatct ctgttaactt aaaaaaaaaa aaaaaaaa
//
