LOCUS       NM_001004072            2839 bp    mRNA    linear   ROD 03-APR-2024
DEFINITION  Rattus norvegicus pyruvate dehydrogenase E1 subunit alpha 1
            (Pdha1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001004072 XM_343787
VERSION     NM_001004072.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2839)
  AUTHORS   Sharkia,I., Hadad Erlich,T., Landolina,N., Assayag,M., Motzik,A.,
            Rachmin,I., Kay,G., Porat,Z., Tshori,S., Berkman,N.,
            Levi-Schaffer,F. and Razin,E.
  TITLE     Pyruvate dehydrogenase has a major role in mast cell function, and
            its activity is regulated by mitochondrial microphthalmia
            transcription factor
  JOURNAL   J Allergy Clin Immunol 140 (1), 204-214 (2017)
   PUBMED   27871875
  REMARK    GeneRIF: The association of mitochondrial microphthalmia-associated
            transcription factor (MITF) with pyruvate dehydrogenase (PDH)
            emerges as an important regulator of mast cell function. Our
            findings indicate that PDH could arise as a new target for the
            manipulation of allergic diseases.
REFERENCE   2  (bases 1 to 2839)
  AUTHORS   Terzenidou,M.E., Segklia,A., Kano,T., Papastefanaki,F.,
            Karakostas,A., Charalambous,M., Ioakeimidis,F., Papadaki,M.,
            Kloukina,I., Chrysanthou-Piterou,M., Samiotaki,M., Panayotou,G.,
            Matsas,R. and Douni,E.
  TITLE     Novel insights into SLC25A46-related pathologies in a genetic mouse
            model
  JOURNAL   PLoS Genet 13 (4), e1006656 (2017)
   PUBMED   28376086
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2839)
  AUTHORS   Bunik,V.I., Artiukhov,A., Kazantsev,A., Goncalves,R., Daloso,D.,
            Oppermann,H., Kulakovskaya,E., Lukashev,N., Fernie,A., Brand,M. and
            Gaunitz,F.
  TITLE     Specific inhibition by synthetic analogs of pyruvate reveals that
            the pyruvate dehydrogenase reaction is essential for metabolism and
            viability of glioblastoma cells
  JOURNAL   Oncotarget 6 (37), 40036-40052 (2015)
   PUBMED   26503465
  REMARK    GeneRIF: Data indicate that catalytic transformation of pyruvate by
            pyruvate dehydrogenase is essential for the metabolism and
            viability of glioblastoma cell lines.
REFERENCE   4  (bases 1 to 2839)
  AUTHORS   Akhmedov,D., De Marchi,U., Wollheim,C.B. and Wiederkehr,A.
  TITLE     Pyruvate dehydrogenase E1alpha phosphorylation is induced by
            glucose but does not control metabolism-secretion coupling in
            INS-1E clonal beta-cells
  JOURNAL   Biochim Biophys Acta 1823 (10), 1815-1824 (2012)
   PUBMED   22809973
  REMARK    GeneRIF: Although glucose stimulates E1alpha phosphorylation and
            therefore inhibits PDH activity, this control mechanism by itself
            does not alter metabolism-secretion coupling in INS-1E clonal
            beta-cells.
REFERENCE   5  (bases 1 to 2839)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   6  (bases 1 to 2839)
  AUTHORS   Johnson,M.T., Mahmood,S., Hyatt,S.L., Yang,H.S., Soloway,P.D.,
            Hanson,R.W. and Patel,M.S.
  TITLE     Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and
            its effect on early embryonic development
  JOURNAL   Mol Genet Metab 74 (3), 293-302 (2001)
   PUBMED   11708858
REFERENCE   7  (bases 1 to 2839)
  AUTHORS   Lissens,W., De Meirleir,L., Seneca,S., Liebaers,I., Brown,G.K.,
            Brown,R.M., Ito,M., Naito,E., Kuroda,Y., Kerr,D.S., Wexler,I.D.,
            Patel,M.S., Robinson,B.H. and Seyda,A.
  TITLE     Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit
            gene (PDHA1) in patients with a pyruvate dehydrogenase complex
            deficiency
  JOURNAL   Hum Mutat 15 (3), 209-219 (2000)
   PUBMED   10679936
  REMARK    Review article
REFERENCE   8  (bases 1 to 2839)
  AUTHORS   Maury,J., Kerbey,A.L., Priestman,D.A., Patel,M.S., Girard,J. and
            Ferre,P.
  TITLE     Pretranslational regulation of pyruvate dehydrogenase complex
            subunits in white adipose tissue during the suckling-weaning
            transition in the rat
  JOURNAL   Biochem J 311 (Pt 2) (Pt 2), 531-535 (1995)
   PUBMED   7487891
REFERENCE   9  (bases 1 to 2839)
  AUTHORS   Cullingford,T.E., Clark,J.B. and Phillips,I.R.
  TITLE     The pyruvate dehydrogenase complex: cloning of the rat somatic E1
            alpha subunit and its coordinate expression with the mRNAs for the
            E1 beta, E2, and E3 catalytic subunits in developing rat brain
  JOURNAL   J Neurochem 62 (5), 1682-1690 (1994)
   PUBMED   8158120
REFERENCE   10 (bases 1 to 2839)
  AUTHORS   Matuda,S., Nakano,K., Ohta,S., Saheki,T., Kawanishi,Y. and
            Miyata,T.
  TITLE     The alpha-ketoacid dehydrogenase complexes. Sequence similarity of
            rat pyruvate dehydrogenase with Escherichia coli and Azotobacter
            vinelandii alpha-ketoglutarate dehydrogenase
  JOURNAL   Biochim Biophys Acta 1089 (1), 1-7 (1991)
   PUBMED   2025639
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC098897.1.
            
            On Feb 3, 2007 this sequence version replaced NM_001004072.1.
            
            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 :: BC098897.1, BC079369.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00132261, SAMD00132262
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2839
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="X"
                     /map="Xq14"
     gene            1..2839
                     /gene="Pdha1"
                     /note="pyruvate dehydrogenase E1 subunit alpha 1"
                     /db_xref="GeneID:29554"
                     /db_xref="RGD:3286"
     exon            1..95
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..1211
                     /gene="Pdha1"
                     /EC_number="1.2.4.1"
                     /note="pyruvate dehydrogenase E1 component subunit alpha,
                     somatic form, mitochondrial; PDHE1-A type I; pyruvate
                     dehydrogenase E1alpha subunit; pyruvate dehydrogenase
                     (lipoamide) alpha 1; pyruvate dehydrogenase alpha 1;
                     pyruvate dehydrogenase E1 alpha 1 subunit"
                     /codon_start=1
                     /product="pyruvate dehydrogenase E1 component subunit
                     alpha, somatic form, mitochondrial precursor"
                     /protein_id="NP_001004072.2"
                     /db_xref="GeneID:29554"
                     /db_xref="RGD:3286"
                     /translation="MRKMLAAVSRVLAGAAQKPASRVLVASRNFANDATFEIKKCDLH
                     RLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCV
                     GLEAGINPTDHLITAYRAHGFTFTRGLPVRAILAELTGRRGGCAKGKGGSMHMYAKNF
                     YGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPC
                     IFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATKFAAAYCRSG
                     KGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEE
                     LKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS"
     exon            96..155
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
     exon            156..329
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
     exon            330..456
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
     exon            457..548
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
     exon            549..641
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
     exon            642..797
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
     exon            798..869
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
     exon            870..937
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1046
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..2814
                     /gene="Pdha1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ctgggtgccg cggctgccgc gtcagtctgc tgcgctccat gaggaagatg cttgccgctg
       61 tgtcccgcgt gttggcaggc gctgcgcaga agccggcaag cagagtgctg gtagcttccc
      121 gtaatttcgc aaatgatgct acatttgaga ttaagaaatg tgaccttcat cgtctagaag
      181 agggccctcc agtcaccaca gtgctcacca gagaggatgg gctcaagtac tacaggatga
      241 tgcagaccgt gcgccggatg gagctcaagg cggatcagct gtataagcag aaaattattc
      301 gtggtttctg tcacttgtgt gatggtcagg aagcctgctg tgtgggcctg gaggctggca
      361 taaaccccac ggaccatctc atcactgcct atcgagccca tggcttcacc ttcactcggg
      421 gcctgcctgt ccgagcaatt cttgcagaat taacaggacg aagaggaggc tgtgctaagg
      481 ggaaaggcgg atcaatgcac atgtacgcca agaacttcta tggcggcaac ggtatcgttg
      541 gagctcaggt gcccctgggt gcaggaattg ctctggcctg caagtataat ggcaaagatg
      601 aggtctgttt gacattatat ggtgatggtg ctgctaacca gggtcagata tttgaagctt
      661 acaatatggc agcattgtgg aaattacctt gtattttcat ctgtgagaat aaccgctatg
      721 gcatgggcac atctgttgag agagcagcag ccagcacgga ttactacaaa agaggagatt
      781 tcattcctgg actgagggta gatggaatgg atatcttgtg tgtccgagag gcaacaaagt
      841 ttgcagctgc ctactgcagg tctggtaagg ggcctatcct gatggagcta cagacttacc
      901 gctaccatgg acatagtatg agtgaccctg gagtcagtta tcgcactcga gaagaaatcc
      961 aggaagtaag aagtaagagt gaccctatta tgcttctcaa ggatagaatg gtgaacagca
     1021 atcttgcaag tgttgaagaa ttaaaggaga ttgatgtgga agtgaggaaa gaaatcgagg
     1081 atgctgccca gtttgccacg gctgatccgg agccgccatt ggaggagcta ggctatcata
     1141 tctacagcag tgacccaccc ttcgaagtgc gtggtgccaa ccagtggatc aagtttaagt
     1201 cagtcagtta atgggagagt attagatgga tgggcgtttc tcatccgttg taagaaactc
     1261 tttgtgctct caactttgac aggaaatacc cagacaacaa aagtcttgaa aacatgtaaa
     1321 ttaagggaga gtaaaattgc atgcagtttg tacattgttg tattcggtgt attcatgtga
     1381 ataagagtgt ataggattgg agatgggtaa tgcagtttat aaccttcatc atgtcctagg
     1441 tcagttacta aaaggaacaa ctctgccatt tggtgatgtg atcatagctt tgaatgacct
     1501 tgtggaggca tgctgggatt aatgcaaagc acaggttaga agtgtatggt caccatgaat
     1561 tgtggaggct ggactctgtt tggcactgac cgttatgtct ttgatcaaag gctatatata
     1621 atcatgtgtt ttaaaataag ggtacttcag tcacttcaaa ggtaaaataa tttaattttc
     1681 tccatttaga catttaacaa acacaaaatt gtactcccat tccaaggcac actttttaac
     1741 ttttcacatt taagtaatta cactggttta taaaatactt aggctttatc tttccagcaa
     1801 ctgctataag gtatgctgac attttaaata ctaggtcagg agagacatta cttacaatcc
     1861 ggtttataaa caagtatgct ctaaatcaca tgtgcttgaa tgaaacgaac aagggtcttt
     1921 ctgtgtaaac gcaggatttg tgtgtgcact aacagaagct ttaatcgtga gcaggtgtag
     1981 ggtacttttt gctcattctc cccagcttgg cttattgtga ggactcctgc atttgtcttc
     2041 tgtgctggga gactgcatgc cagagcctac agaggacacc accactgcaa aacaataatt
     2101 ttcataagaa aagcaaactt gaagccaccc atctactctt caaatgtaat ctctaactta
     2161 aaagtatgta accttttcct agacatggta ccataggaac actgggtgat ctgggtagag
     2221 gtgtgggcat ttaaacaatg taaagaaagg tctggcacct catgccttgc caacctgaga
     2281 aaatgagctg tgcttgctac aacataggaa agataaattt caaagatcgg ggaaactacc
     2341 agcattaaaa ataaaagtat tcacataaaa aagccccatt ttattattta aattgtttgc
     2401 aggctctctt accgtagtct gaggcacctt aggtcttcct tagtgatatc attgagaata
     2461 tcagaaagtg tgtaatcttc ttcaacaatc tgaaagattc aacatacatt caacaacata
     2521 agcagctttt caacagtatc ataggaatcc tttgatttag aaatttacct tttctattgt
     2581 atttgcatcc actccttgta gctgcaacca gtctataagc tctctgttgg ttcccagtcc
     2641 gtcatggggt ggtgggttct ctgttccacc tataaagatt ccaattttgt tttattgtat
     2701 agtaatgtat aaccataaaa tgcttcaaaa ataacaaagt ggatgtaatc atgtatccaa
     2761 acagaaatgt aaatgtgctg tgaaaaggaa atgaattaaa cttgtttgac ccgcaaaaaa
     2821 aaaaaaaaaa aaaaaaaaa
//
