LOCUS       NM_001403510            1722 bp    mRNA    linear   ROD 24-OCT-2024
DEFINITION  Mus musculus branched chain ketoacid dehydrogenase E1, alpha
            polypeptide (Bckdha), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001403510 XM_006539486
VERSION     NM_001403510.1
KEYWORDS    RefSeq.
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 1722)
  AUTHORS   Zhou,F., Sheng,C., Ma,X., Li,T., Ming,X., Wang,S., Tan,J., Yang,Y.,
            Sun,H., Lu,J., Liu,J., Deng,R., Wang,X. and Zhou,L.
  TITLE     BCKDH kinase promotes hepatic gluconeogenesis independent of BCKDHA
  JOURNAL   Cell Death Dis 15 (10), 736 (2024)
   PUBMED   39389936
  REMARK    GeneRIF: BCKDH kinase promotes hepatic gluconeogenesis independent
            of BCKDHA.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1722)
  AUTHORS   Yang,Y., Wang,S., Sheng,C., Tan,J., Chen,J., Li,T., Ma,X., Sun,H.,
            Wang,X. and Zhou,L.
  TITLE     Branched-chain amino acid catabolic defect promotes alpha-cell
            proliferation via activating mTOR signaling
  JOURNAL   Mol Cell Endocrinol 582, 112143 (2024)
   PUBMED   38158148
REFERENCE   3  (bases 1 to 1722)
  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   4  (bases 1 to 1722)
  AUTHORS   Tian,Y., Ma,J., Wang,M., Yi,X., Guo,S., Wang,H., Zhang,H., Wang,H.,
            Yang,Y., Zhang,B., Du,J., Shi,Q., Gao,T., Li,C. and Guo,W.
  TITLE     BCKDHA contributes to melanoma progression by promoting the
            expressions of lipogenic enzymes FASN and ACLY
  JOURNAL   Exp Dermatol 32 (10), 1633-1643 (2023)
   PUBMED   37377173
  REMARK    GeneRIF: BCKDHA contributes to melanoma progression by promoting
            the expressions of lipogenic enzymes FASN and ACLY.
REFERENCE   5  (bases 1 to 1722)
  AUTHORS   Pontoizeau,C., Simon-Sola,M., Gaborit,C., Nguyen,V., Rotaru,I.,
            Tual,N., Colella,P., Girard,M., Biferi,M.G., Arnoux,J.B., Rotig,A.,
            Ottolenghi,C., de Lonlay,P., Mingozzi,F., Cavazzana,M. and
            Schiff,M.
  TITLE     Neonatal gene therapy achieves sustained disease rescue of maple
            syrup urine disease in mice
  JOURNAL   Nat Commun 13 (1), 3278 (2022)
   PUBMED   35672312
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1722)
  AUTHORS   Hsu,S.I., Yang,C.M., Sim,K.G., Hentschel,D.M., O'Leary,E. and
            Bonventre,J.V.
  TITLE     TRIP-Br: a novel family of PHD zinc finger- and
            bromodomain-interacting proteins that regulate the transcriptional
            activity of E2F-1/DP-1
  JOURNAL   EMBO J 20 (9), 2273-2285 (2001)
   PUBMED   11331592
REFERENCE   7  (bases 1 to 1722)
  AUTHORS   Araki,K., Imaizumi,T., Sekimoto,T., Yoshinobu,K., Yoshimuta,J.,
            Akizuki,M., Miura,K., Araki,M. and Yamamura,K.
  TITLE     Exchangeable gene trap using the Cre/mutated lox system
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 45 (5), 737-750 (1999)
   PUBMED   10512203
REFERENCE   8  (bases 1 to 1722)
  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   9  (bases 1 to 1722)
  AUTHORS   Costeas,P.A. and Chinsky,J.M.
  TITLE     Effects of insulin on the regulation of branched-chain alpha-keto
            acid dehydrogenase E1 alpha subunit gene expression
  JOURNAL   Biochem J 318 (Pt 1) (Pt 1), 85-92 (1996)
   PUBMED   8761456
REFERENCE   10 (bases 1 to 1722)
  AUTHORS   Frerman,F.E., Sabran,J.L., Taylor,J.L. and Grossberg,S.E.
  TITLE     Leucine catabolism during the differentiation of 3T3-L1 cells.
            Expression of a mitochondrial enzyme system
  JOURNAL   J Biol Chem 258 (11), 7087-7093 (1983)
   PUBMED   6304077
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC162614.2.
            
            On Mar 31, 2022 this sequence version replaced XM_006539486.5.
            
            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 :: SRR7345562.1967829.1,
                                           SRR13422598.315116.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849386, SAMN01164131
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               AC162614.2         114978-115098
            122-172             AC162614.2         124453-124503
            173-355             AC162614.2         131905-132087
            356-442             AC162614.2         132188-132274
            443-551             AC162614.2         135461-135569
            552-713             AC162614.2         140330-140491
            714-920             AC162614.2         141887-142093
            921-1062            AC162614.2         142248-142389
            1063-1234           AC162614.2         142560-142731
            1235-1722           AC162614.2         143298-143785
FEATURES             Location/Qualifiers
     source          1..1722
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 13.94 cM"
     gene            1..1722
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /note="branched chain ketoacid dehydrogenase E1, alpha
                     polypeptide"
                     /db_xref="GeneID:12039"
                     /db_xref="MGI:MGI:107701"
     exon            1..121
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..1405
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /EC_number="1.2.4.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     2-oxoisovalerate dehydrogenase subunit alpha,
                     mitochondrial; BCKDH E1-alpha; branched-chain alpha-keto
                     acid dehydrogenase E1 component alpha chain; BCKAD E1[a]"
                     /codon_start=1
                     /product="2-oxoisovalerate dehydrogenase subunit alpha,
                     mitochondrial isoform 1"
                     /protein_id="NP_001390439.1"
                     /db_xref="GeneID:12039"
                     /db_xref="MGI:MGI:107701"
                     /translation="MAIVMSAAKIWRPSRGLRQAALLLLGRSGVRGLARSVAFSAGER
                     AMDLAGARQHPSRQQQQQFPSLDDKPQFPGASAEFVDKLEFIQPNVISGIPIYRVMDR
                     QGQIINPSEDPHLPQEEVLKFYRSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHV
                     GSAAALERTDLVFGQYREAGVLMYRDYPLELFMSQCYGNVNDPGKGRQMPVHYGCKER
                     HFVTISSPLATQIPQAVGAAYAAKRANANRIVICYFGEGAASEGDAHAGFNFAATLEC
                     PIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRR
                     AVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRQYLLNQGWW
                     DEEQEKAWRKQSRKKVMEAFEQAERKLKPNPSLLFSDVYQEMPAQLRRQQESLARHLQ
                     TYGEHYPLDHFDK"
     exon            122..172
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /inference="alignment:Splign:2.1.0"
     exon            173..355
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /inference="alignment:Splign:2.1.0"
     exon            356..442
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /inference="alignment:Splign:2.1.0"
     exon            443..551
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /inference="alignment:Splign:2.1.0"
     exon            552..713
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /inference="alignment:Splign:2.1.0"
     exon            714..920
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1062
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1234
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1722
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1699..1704
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /note="hexamer: AGTAAA"
     polyA_site      1722
                     /gene="Bckdha"
                     /gene_synonym="BCKAD; BCKDE1A; E1[a]"
                     /note="major polyA site"
ORIGIN      
        1 gttattagcc aagatggcga tagtgatgtc tgcggccaag atctggaggc cgagccgtgg
       61 cctgcgccag gctgctcttc tcctgttggg acgatctggg gttcggggct tggctagatc
      121 tgttgccttc agtgctgggg agagagccat ggacctcgcg ggtgctaggc agcaccccag
      181 caggcagcag caacagcagt tcccatccct ggacgacaag ccccagttcc caggggcctc
      241 tgcagagttt gtagacaagc ttgagttcat ccagcccaat gtcatctccg gcatccccat
      301 ctaccgtgtc atggaccgcc agggccagat catcaacccc agtgaagatc cccacctgcc
      361 ccaggaggag gtgctgaagt tctaccggag catgacgctg ctcaacacca tggaccgcat
      421 tctctatgag tcccagcggc agggccggat ctccttctac atgaccaact atggcgagga
      481 ggggacacat gtgggcagtg ccgctgcctt ggagcgcaca gacctggtgt ttggccagta
      541 ccgggaggca ggtgtgctca tgtaccggga ctacccgctg gagctgttca tgtcccagtg
      601 ctacggcaac gtgaatgacc caggcaaggg acgccagatg cctgttcact acggctgcaa
      661 ggaacgccac ttcgtcacca tttcctctcc actggccacg cagatccctc aggcggtagg
      721 ggcagcctat gctgccaagc gggccaatgc caaccggatt gtgatctgtt actttggcga
      781 gggggcagcc agtgaagggg atgcccacgc cggtttcaat ttcgctgcca ccctggagtg
      841 tcccatcatc ttcttctgcc ggaacaatgg ctatgccatc tccacaccaa cctctgagca
      901 gtaccgtggg gatggcatag cggctcgggg ccctgggtac ggcatcatgt caatccgtgt
      961 ggacggcaac gatgtgtttg ctgtgtacaa tgccactaag gaggcccgac ggcgggctgt
     1021 ggctgagaac cagcccttcc tcattgaggc catgacctac aggattggcc accacagcac
     1081 cagtgacgac agctcagcgt accgttcggt ggacgaggtc aattactggg acaagcagga
     1141 ccacccaatc tcgaggctga ggcagtacct gctgaaccag ggttggtggg atgaggaaca
     1201 ggagaaggcc tggcggaagc agtcacgaaa gaaggtcatg gaagcctttg agcaggctga
     1261 gcggaagcta aagccgaacc caagcctcct cttctccgat gtgtaccagg agatgcccgc
     1321 ccagctccgc aggcagcagg agtcgctggc acggcacctg cagacttacg gggagcacta
     1381 ccccctggac cactttgaca agtgaggccc tagccagcac aagggggtcc tgctctgagt
     1441 ggatgctgcc ccctgtgcta gtcagctgtg cgaacatgct gagcagccag ggtggcattc
     1501 cagggtgact tttgctcctg ttcctgctcc cccaggctac ttcactgggg caccatgttt
     1561 gcagccattg ctgcggctac ttcactccct tcacctgtta cagtgccttt taggggtggg
     1621 aagggaccag ggccagggaa gaccctctgg gcagggtggc cctgggcttg cccagagaga
     1681 tagctgattg gcagagtaag taaaccacag gtctgccttt ga
//
