LOCUS       NM_010022               3244 bp    mRNA    linear   ROD 13-JUN-2024
DEFINITION  Mus musculus dihydrolipoamide branched chain transacylase E2 (Dbt),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_010022
VERSION     NM_010022.5
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 3244)
  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   2  (bases 1 to 3244)
  AUTHORS   S Sonnet,D., N O'Leary,M., A Gutierrez,M., M Nguyen,S., Mateen,S.,
            Hsu,Y., P Mitchell,K., J Lopez,A., Vockley,J., K Kennedy,B. and
            Ramanathan,A.
  TITLE     Metformin inhibits Branched Chain Amino Acid (BCAA) derived
            ketoacidosis and promotes metabolic homeostasis in MSUD
  JOURNAL   Sci Rep 6, 28775 (2016)
   PUBMED   27373929
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3244)
  AUTHORS   Skvorak,K.J., Hager,E.J., Arning,E., Bottiglieri,T., Paul,H.S.,
            Strom,S.C., Homanics,G.E., Sun,Q., Jansen,E.E., Jakobs,C.,
            Zinnanti,W.J. and Gibson,K.M.
  TITLE     Hepatocyte transplantation (HTx) corrects selected neurometabolic
            abnormalities in murine intermediate maple syrup urine disease
            (iMSUD)
  JOURNAL   Biochim Biophys Acta 1792 (10), 1004-1010 (2009)
   PUBMED   19699299
REFERENCE   4  (bases 1 to 3244)
  AUTHORS   Tamplin,O.J., Kinzel,D., Cox,B.J., Bell,C.E., Rossant,J. and
            Lickert,H.
  TITLE     Microarray analysis of Foxa2 mutant mouse embryos reveals novel
            gene expression and inductive roles for the gastrula organizer and
            its derivatives
  JOURNAL   BMC Genomics 9, 511 (2008)
   PUBMED   18973680
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3244)
  AUTHORS   Homanics,G.E., Skvorak,K., Ferguson,C., Watkins,S. and Paul,H.S.
  TITLE     Production and characterization of murine models of classic and
            intermediate maple syrup urine disease
  JOURNAL   BMC Med Genet 7, 33 (2006)
   PUBMED   16579849
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3244)
  AUTHORS   Mootha,V.K., Bunkenborg,J., Olsen,J.V., Hjerrild,M.,
            Wisniewski,J.R., Stahl,E., Bolouri,M.S., Ray,H.N., Sihag,S.,
            Kamal,M., Patterson,N., Lander,E.S. and Mann,M.
  TITLE     Integrated analysis of protein composition, tissue diversity, and
            gene regulation in mouse mitochondria
  JOURNAL   Cell 115 (5), 629-640 (2003)
   PUBMED   14651853
REFERENCE   7  (bases 1 to 3244)
  AUTHORS   Ko,M.S., Threat,T.A., Wang,X., Horton,J.H., Cui,Y., Wang,X.,
            Pryor,E., Paris,J., Wells-Smith,J., Kitchen,J.R., Rowe,L.B.,
            Eppig,J., Satoh,T., Brant,L., Fujiwara,H., Yotsumoto,S. and
            Nakashima,H.
  TITLE     Genome-wide mapping of unselected transcripts from extraembryonic
            tissue of 7.5-day mouse embryos reveals enrichment in the t-complex
            and under-representation on the X chromosome
  JOURNAL   Hum Mol Genet 7 (12), 1967-1978 (1998)
   PUBMED   9811942
REFERENCE   8  (bases 1 to 3244)
  AUTHORS   Costeas,P.A. and Chinsky,J.M.
  TITLE     Isolation of the murine branched-chain alpha-ketoacid dehydrogenase
            E2 subunit promoter region
  JOURNAL   Biochim Biophys Acta 1399 (1), 111-116 (1998)
   PUBMED   9714767
REFERENCE   9  (bases 1 to 3244)
  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   10 (bases 1 to 3244)
  AUTHORS   Costeas,P.A., Tonelli,L.A. and Chinsky,J.M.
  TITLE     Molecular cloning of the murine branched chain alpha-ketoacid
            dehydrogenase E2 subunit: presence of 3' B1 repeat elements
  JOURNAL   Biochim Biophys Acta 1305 (1-2), 25-28 (1996)
   PUBMED   8605244
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC025622.3.
            
            On Jul 25, 2022 this sequence version replaced NM_010022.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK075831.1, BC055890.1 [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
            1-65                AC025622.3         117403-117467
            66-189              AC025622.3         124513-124636
            190-265             AC025622.3         127628-127703
            266-447             AC025622.3         137531-137712
            448-569             AC025622.3         139021-139142
            570-786             AC025622.3         143365-143581
            787-953             AC025622.3         143931-144097
            954-1031            AC025622.3         148044-148121
            1032-1223           AC025622.3         150258-150449
            1224-1295           AC025622.3         150570-150641
            1296-3244           AC025622.3         152309-154257
FEATURES             Location/Qualifiers
     source          1..3244
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 50.37 cM"
     gene            1..3244
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /note="dihydrolipoamide branched chain transacylase E2"
                     /db_xref="GeneID:13171"
                     /db_xref="MGI:MGI:105386"
     exon            1..65
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..1463
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /EC_number="2.3.1.168"
                     /note="isoform 1 is encoded by transcript variant 1;
                     lipoamide acyltransferase component of branched-chain
                     alpha-keto acid dehydrogenase complex, mitochondrial; part
                     of the BCKAD complex; dihydrolipoyl transacylase;
                     branched-chain alpha-ketoacid dehydrogenase, E2 subunit;
                     branched-chain alpha-keto acid dehydrogenase complex
                     component E2; dihydrolipoamide acetyltransferase component
                     of branched-chain alpha-keto acid dehydrogenase complex;
                     dihydrolipoyllysine-residue
                     (2-methylpropanoyl)transferase"
                     /codon_start=1
                     /product="lipoamide acyltransferase component of
                     branched-chain alpha-keto acid dehydrogenase complex,
                     mitochondrial isoform 1"
                     /protein_id="NP_034152.2"
                     /db_xref="CCDS:CCDS17787.1"
                     /db_xref="GeneID:13171"
                     /db_xref="MGI:MGI:105386"
                     /translation="MAAARVLRTWSQNAVRLTCVRYFQTFNSARVLKPKCVCSVGYPL
                     FKYSQPRHSLRTAAVLQGQVVQFKLSDIGEGIREVTIKEWYVKEGDTVSQFDSICEVQ
                     SDKASVTITSRYDGVIKRLYYNLDDIAYVGKPLIDIETEALKDSEEDVVETPAVSHDE
                     HTHQEIKGQKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILSFLEKQTGAILP
                     PSPKSEITPPPPQPKDRTFPTPIAKPPVFTGKDRTEPVTGFQKAMVKTMSAALKIPHF
                     GYCDEIDLTQLVKLREELKPVALARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQ
                     NITYKASHNIGIAMDTELGLIVPNVKNVQVRSVFEIAMELNRLQKLGSSGQLGTTDLT
                     GGTFTLSNIGSIGGTYAKPVILPPEVAIGALGAIKALPRFDQKGDVYKAQIMNVSWSA
                     DHRVIDGATMSRFSNLWKSYLENPAFMLLDLK"
     exon            66..189
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     exon            190..265
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     exon            266..447
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     exon            448..569
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     exon            570..786
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     exon            787..953
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1031
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1223
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1295
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..3244
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3221..3226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /note="hexamer: AATAAA"
     polyA_site      3244
                     /gene="Dbt"
                     /gene_synonym="BCKAD E2; BCKAD-E2; D3Wsu60e"
                     /note="major polyA site"
ORIGIN      
        1 atttccggag taaaatggct gcagcgcgtg tactgaggac ctggagccag aacgctgtca
       61 gactgacctg tgttcgctat tttcagacat ttaatagcgc ccgtgttttg aagccaaaat
      121 gtgtgtgctc tgtgggttat ccattgttca agtacagtca gccacgtcac tccctgagaa
      181 cagcggccgt gctccaggga caggttgttc agttcaaact ctccgacatc ggagaaggaa
      241 ttcgagaagt aactattaaa gaatggtatg taaaagaagg agatacggtg tctcagtttg
      301 acagcatctg tgaagttcaa agtgacaagg cctctgtcac catcaccagc cgttacgatg
      361 gcgtcattaa gaggctctat tacaatctag atgatatcgc ttatgtgggg aaaccactga
      421 tcgacattga gacagaagct ttaaaggatt cagaggaaga tgttgttgaa acccccgctg
      481 tgtcccatga tgagcacact caccaagaga taaaaggcca gaaaacacta gcaacgcctg
      541 cagtgcgtcg gctggcaatg gaaaacaata ttaagctgag tgaagttgtt ggctcaggaa
      601 aagatggcag aatacttaaa gaagatattc tcagcttttt ggaaaagcag acaggagcca
      661 tactgcctcc ctcaccaaaa tctgaaatca caccacctcc accacagccc aaagacagga
      721 cctttcccac gccgatagca aagcctccag tgttcacagg caaagaccga acagagccag
      781 tgacaggctt ccagaaggca atggtgaaga ccatgtctgc agccctgaag attccccact
      841 tcgggtattg tgatgagatt gaccttactc aactggttaa gcttcgagaa gagctgaaac
      901 ctgttgcttt ggcgcgtgga atcaaactct ccttcatgcc cttcttctta aaggctgctt
      961 ctctgggact cctgcagttt cctatcctca atgcctccgt ggacgagaac tgccagaaca
     1021 tcacctacaa ggcttctcac aacattggga tagcaatgga cactgagctg gggttaattg
     1081 tccccaatgt gaagaacgtt caggtccgct ctgtatttga gatcgccatg gaactgaacc
     1141 gcctccagaa actgggctct tccggtcagc tcggtaccac cgaccttaca ggagggacat
     1201 ttactctttc caacattgga tcaatcggtg gaacctatgc caagccagtg atattgccac
     1261 cggaagtagc cattggtgcc ctgggagcga ttaaggctct tccccgattt gaccagaaag
     1321 gagacgttta taaagcacag ataatgaatg tgagctggtc agcggatcac agggtcatcg
     1381 atggggccac catgtcacgc ttctctaatt tgtggaaatc ctacttagaa aacccagcgt
     1441 ttatgctgct ggatctgaaa taatggcaaa caggacatct gtgaactttt cgcatttcca
     1501 aagagtgtgt gaggcctcgc tgagccagca catactctgg ttgcggctgc attagaaatg
     1561 gtttgtgctg ccttggtagg gctttaaagc acagtatttc tcactgacac attgggcttt
     1621 ctgctggaaa ggagcggtgg gtaaggctcc cctgggtatc acattgtgta ggtcagagcg
     1681 gggcttccat tatggtgctg agatctatgt gtcagtgagt tgaaacaagc aacaaaacaa
     1741 aattgatgtc actaaatgtc actaatgcca ctgaaggcga gtagcagtat acatgcagaa
     1801 cttgccctct ttctttttaa tttttaactg atttttttaa tgaaactttt aaattatact
     1861 taatcgggga aaagactctg tatgcaagta tgttttcatt tccctacaat cgaagtaact
     1921 aatgtacaaa ataagtgcaa ttctgtttat ctcttcagct tatgagacat atacccttgc
     1981 cttatgtgta aagtatcatc tataaatgtc ttatagctat aaattagcat tcttgaaagg
     2041 ggggagttat aagttggtct taattggagg ttacaaccaa aaaagctgtt aagagtagat
     2101 gtgtagatgg gtggatgtgc agagctgtga gcgagcttcc gcattttgct gggaaatact
     2161 tgactttgca aactcatttt gtgatataaa ataccataag catagcatca ctgtcttttt
     2221 ttcttttaat acttagagat ttgttgcctt ttgatttcag tgaccttcag cgagacacga
     2281 gaaaaggtct tggagtctgt tctgtcctcc cagccctcag taggagcacg tattaataag
     2341 aagagccaca tgggaaatta tgggcataaa attaatttat acagaaatgc tactaatgat
     2401 catcttgaaa aaggtctact ttaatcagat agcttcaggg ggattctaat tcaaggctga
     2461 gaaagccttt attccaagca cttgagaaac aaagacaagt ggatctctga gttcgaggcc
     2521 agcctggtct acagagtgag ttcacagaca gccagagcta tgtagagaaa ccctgtattt
     2581 aaaaagaaaa aggaaggaag gaaggaagga aggaaggaag gaaggaagga agaaagaaag
     2641 aaagaaagaa agaaagaaag aaagaaagaa aggaagaaaa gaaaagaaaa gaaaagaaaa
     2701 gaaattcagt attttgaaat ctaggtttgg aggttttttc cttctaatat tatctaacta
     2761 agtatatcat gaaaaaaatt acttatctaa atgaaagttt tgtggtagaa aaaatggtca
     2821 ttttaatgcc tgtttgattt tttccaaaaa tggaactatg ttataaattt agtaaatgct
     2881 gtttggttgg aaattcccat catgaaaccc attattttta cataaagaaa attaacaaaa
     2941 gaaaaccaat tcccaatagg cattttgtcc gtagacctct aatccccaca caggcaggcc
     3001 ttgttaggtc catagtgaga cttcgtcgga aggagggaaa actacaggta gcgtggagga
     3061 aacacactgt tatctataat ctaaacattg ttaacattct gatacatgta tctgtataca
     3121 taggtaagta ttcttttata aaaatgaaat aatgtatcta ctattttata atttgatttt
     3181 ttaaaaattt atccttatat tatggatacc tttatatgtc aataaacagt tccacattat
     3241 cata
//
