LOCUS       NM_001305935            1507 bp    mRNA    linear   ROD 24-DEC-2024
DEFINITION  Mus musculus branched chain ketoacid dehydrogenase E1, beta
            polypeptide (Bckdhb), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001305935 XM_006510785
VERSION     NM_001305935.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1507)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1507)
  AUTHORS   Pontoizeau,C., Gaborit,C., Tual,N., Simon-Sola,M., Rotaru,I.,
            Benoist,M., Colella,P., Lamaziere,A., Brassier,A., Arnoux,J.B.,
            Rotig,A., Ottolenghi,C., de Lonlay,P., Mingozzi,F., Cavazzana,M.
            and Schiff,M.
  TITLE     Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal
            AAV gene therapy
  JOURNAL   J Inherit Metab Dis 47 (1), 41-49 (2024)
   PUBMED   36880392
  REMARK    GeneRIF: Successful treatment of severe MSUD in Bckdhb[-/-] mice
            with neonatal AAV gene therapy.
REFERENCE   3  (bases 1 to 1507)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1507)
  AUTHORS   Leandro,J., Violante,S., Argmann,C.A., Hagen,J., Dodatko,T.,
            Bender,A., Zhang,W., Williams,E.G., Bachmann,A.M., Auwerx,J., Yu,C.
            and Houten,S.M.
  TITLE     Mild inborn errors of metabolism in commonly used inbred mouse
            strains
  JOURNAL   Mol Genet Metab 126 (4), 388-396 (2019)
   PUBMED   30709776
REFERENCE   5  (bases 1 to 1507)
  AUTHORS   Joshi,M.A., Jeoung,N.H., Obayashi,M., Hattab,E.M., Brocken,E.G.,
            Liechty,E.A., Kubek,M.J., Vattem,K.M., Wek,R.C. and Harris,R.A.
  TITLE     Impaired growth and neurological abnormalities in branched-chain
            alpha-keto acid dehydrogenase kinase-deficient mice
  JOURNAL   Biochem J 400 (1), 153-162 (2006)
   PUBMED   16875466
  REMARK    GeneRIF: Disruption of the BDK gene establishes that regulation of
            BCKDH by phosphorylation is critically important for the regulation
            of oxidative disposal of branched-chain amino acids.
REFERENCE   6  (bases 1 to 1507)
  AUTHORS   Nakai,N., Shimomura,Y., Tamura,T., Tamura,N., Hamada,K., Kawano,F.
            and Ohira,Y.
  TITLE     Leucine-induced activation of translational initiation is partly
            regulated by the branched-chain alpha-keto acid dehydrogenase
            complex in C2C12 cells
  JOURNAL   Biochem Biophys Res Commun 343 (4), 1244-1250 (2006)
   PUBMED   16581023
REFERENCE   7  (bases 1 to 1507)
  AUTHORS   Doering,C.B., Coursey,C., Spangler,W. and Danner,D.J.
  TITLE     Murine branched chain alpha-ketoacid dehydrogenase kinase; cDNA
            cloning, tissue distribution, and temporal expression during
            embryonic development
  JOURNAL   Gene 212 (2), 213-219 (1998)
   PUBMED   9611264
REFERENCE   8  (bases 1 to 1507)
  AUTHORS   Chinsky,J.M. and Costeas,P.A.
  TITLE     Molecular cloning and analysis of the expression of the E1 beta
            subunit of branched chain alpha-ketoacid dehydrogenase in mice
  JOURNAL   Biochim Biophys Acta 1216 (3), 499-503 (1993)
   PUBMED   8268236
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV455466.1 and BC064099.1.
            
            On Apr 10, 2015 this sequence version replaced XM_006510785.1.
            
            Summary: This gene encodes the beta chain of the branched chain
            alpha ketoacid dehydrogenase (Bckdh) complex. The encoded protein
            exists in a heterotetrameric complex containing the Bckdh alpha
            subunit to form the E1 catalytic component of Bckdh complex. The
            Bckdh complex catalyzes the oxidative decarboxylation of branched
            chain ketoacids to their corresponding acyl-CoA esters, during the
            catabolism of leucine, isoleucine and valine. In humans, certain
            mutations in this gene cause maple syrup urine disease. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. A pseudogene for this gene has been identified. [provided
            by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK089921.1, AK156264.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            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
            1-223               AV455466.1         1-223
            224-1507            BC064099.1         136-1419
FEATURES             Location/Qualifiers
     source          1..1507
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 45.67 cM"
     gene            1..1507
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /note="branched chain ketoacid dehydrogenase E1, beta
                     polypeptide"
                     /db_xref="GeneID:12040"
                     /db_xref="MGI:MGI:88137"
     exon            1..223
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..1206
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /EC_number="1.2.4.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     2-oxoisovalerate dehydrogenase subunit beta,
                     mitochondrial; branched-chain alpha-keto acid
                     dehydrogenase E1 component beta chain"
                     /codon_start=1
                     /product="2-oxoisovalerate dehydrogenase subunit beta,
                     mitochondrial isoform 1"
                     /protein_id="NP_001292864.1"
                     /db_xref="CCDS:CCDS81045.1"
                     /db_xref="GeneID:12040"
                     /db_xref="MGI:MGI:88137"
                     /translation="MAAVAARAGGLLWLRAAGAERRRCGLRCAALVQGFLQPGGEDTA
                     QKRRVAHFTFHPDPESLQYGQTQKMNLFQSITSALDNSLAKDPTAVIFGEDVAFGGVF
                     RCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVN
                     EAAKYRYRSGDLFNCGSLTIRAPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQ
                     AKGLLLSCIEDKNPCIFFEPKILYRAAVEQVPVEPYKIPLSQAEVIQEGSDVTLVAWG
                     TQVHVIREVASMAQEKLGVSCEVIDLRTIVPWDVDTVCKSVIKTGRLLISHEAPLTGG
                     FASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY"
     exon            224..301
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     exon            302..370
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     exon            371..504
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     exon            505..660
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     exon            661..769
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     exon            770..867
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     exon            868..978
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1065
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1214
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1486
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1462..1467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /note="hexamer: AATAAA"
     polyA_site      1486
                     /gene="Bckdhb"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta"
                     /note="major polyA site"
ORIGIN      
        1 ggcagcgtgg gctgcggtgc ctgagaactg gggatggcgg cggtggctgc gcgcgcgggt
       61 gggctgctgt ggctccgggc tgcgggagca gagcggcggc ggtgcggact gcgctgcgct
      121 gcgctggtgc aaggcttcct gcaacccggg ggcgaggaca cggcccagaa gcggcgggtg
      181 gcccacttca ctttccatcc ggacccagag tccctgcagt atgggcaaac tcagaagatg
      241 aacctcttcc agtcaataac aagtgccctg gataactcat tagccaaaga ccccactgca
      301 gtaatatttg gtgaagatgt tgcctttggt ggagtcttcc gatgcactgt tggtttacga
      361 gacaaatacg gaaaagatag agtgtttaac accccgttgt gtgaacaagg aatagttgga
      421 tttggcattg gaatcgcggt caccggtgct acagctattg cggaaatcca gtttgccgac
      481 tatattttcc ctgcctttga tcagattgtc aacgaagctg ccaagtatcg ctaccgctca
      541 ggtgatcttt tcaactgtgg gagcctcacc atccgggccc cgtggggttg tgtgggccat
      601 ggggctctct accattctca gagtcctgaa gccttttttg cccattgccc agggatcaag
      661 gtggtaatac cccgaagccc tttccaggcc aagggacttc tgttgtcatg catagaagat
      721 aaaaatccat gtatattttt tgaacctaaa atactttacc gggcagcagt ggaacaggtc
      781 ccagtagaac cctacaagat ccccttgtct caggctgaag tcatccagga gggcagcgat
      841 gtgactctgg ttgcctgggg cactcaggtt catgtcatcc gggaggtggc ttccatggcc
      901 caagaaaagc ttggagtatc ttgtgaagtc atcgatctgc ggacaattgt gccttgggat
      961 gtggatacag tttgcaagtc tgtgatcaaa accgggcgac tgttgatcag ccacgaggct
     1021 cccttaacag gcggctttgc ctctgagatc agctccacgg tccaggaaga atgtttcttg
     1081 aacctagagg ctccaatatc tcgagtttgc ggatatgaca ccccgtttcc tcacatcttt
     1141 gagccctttt atatcccaga caaatggaag tgctacgatg cccttcgcaa gatgatcaac
     1201 tattgacgac agagaaaacc aggaagatca tgaccagaca tggaaatatt tttctgaaac
     1261 ctttttatat ttccttatac ttctttcttc ttacatatag ttttatgcaa cgaactgtca
     1321 tggatattgg ctgatgagct gcgaattact tatcatgtta atataaatgg attgagtgca
     1381 caggaggaat gctttaagga gtgcgtgggc ggtgatctta agactgtttc atgactataa
     1441 ataccgggtg gtgttgtatt caataaagcc aaattacatc gcctcaaaaa aaaaaaaaaa
     1501 aaaaaaa
//
