LOCUS       NM_001004072            2839 bp    mRNA    linear   ROD 12-NOV-2023
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 ME, 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 VI, 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 CB 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 JM, Ballesca JL 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 MT, Mahmood S, Hyatt SL, Yang HS, Soloway PD, Hanson RW and
            Patel MS.
  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 GK, Brown RM,
            Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH
            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 AL, Priestman DA, Patel MS, 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 TE, Clark JB and Phillips IR.
  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 conservation,
                                                  expression, longest protein
            ##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="

MRKMLAAVSRVLAGAAQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLPVRAILAELTGRRGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATKFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS"

     transit_peptide 39..125
                     /gene="Pdha1"
                     /note="Mitochondrion. /evidence=ECO:0000250; propagated
                     from UniProtKB/Swiss-Prot (P26284.2)"
     mat_peptide     126..1208
                     /gene="Pdha1"
                     /product="Pyruvate dehydrogenase E1 component subunit
                     alpha, somatic form, mitochondrial. /id=PRO_0000020445"
                     /note="propagated from UniProtKB/Swiss-Prot (P26284.2)"
     misc_feature    210..1148
                     /gene="Pdha1"
                     /note="pyruvate dehydrogenase E1 component, alpha subunit;
                     Region: PDH_E1_alph_y; TIGR03182"
                     /db_xref="CDD:274473"
     misc_feature    225..227
                     /gene="Pdha1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); acetylation site"
     misc_feature    order(300..302,456..458,531..536,627..629,633..644,
                     651..653,663..665,675..677,720..731,771..773,924..926,
                     936..938)
                     /gene="Pdha1"
                     /note="tetramer interface [polypeptide binding]; other
                     site"
                     /db_xref="CDD:238958"
     misc_feature    order(390..395,531..533,537..539,621..632,711..713,
                     717..719,912..914)
                     /gene="Pdha1"
                     /note="TPP-binding site [chemical binding]; other site"
                     /db_xref="CDD:238958"
     misc_feature    order(516..518,522..524,528..530,543..545,552..557,
                     564..569,573..578,585..587,642..647,663..668,675..677)
                     /gene="Pdha1"
                     /note="heterodimer interface [polypeptide binding]; other
                     site"
                     /db_xref="CDD:238958"
     misc_feature    732..734
                     /gene="Pdha1"
                     /note="Phosphoserine, by PDK1.
                     /evidence=ECO:0000269|PubMed:19341700; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); phosphorylation site"
     misc_feature    768..770
                     /gene="Pdha1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); acetylation site"
     misc_feature    837..839
                     /gene="Pdha1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); acetylation site"
     misc_feature    order(897..917,921..953,978..986)
                     /gene="Pdha1"
                     /note="phosphorylation loop region [posttranslational
                     modification]"
                     /db_xref="CDD:238958"
     misc_feature    915..917
                     /gene="Pdha1"
                     /note="Phosphoserine, by PDK1, PDK2, PDK3 and PDK4.
                     /evidence=ECO:0000269|PubMed:19341700; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); phosphorylation site"
     misc_feature    921..923
                     /gene="Pdha1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); phosphorylation site"
     misc_feature    936..938
                     /gene="Pdha1"
                     /note="Phosphoserine, by PDK1, PDK2, PDK3 and PDK4.
                     /evidence=ECO:0000269|PubMed:19341700; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); phosphorylation site"
     misc_feature    939..941
                     /gene="Pdha1"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); phosphorylation site"
     misc_feature    975..977
                     /gene="Pdha1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); acetylation site"
     misc_feature    999..1001
                     /gene="Pdha1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P08559; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); acetylation site"
     misc_feature    1044..1046
                     /gene="Pdha1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P26284.2); acetylation site"
     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      

ctgggtgccgcggctgccgcgtcagtctgctgcgctccatgaggaagatgcttgccgctgtgtcccgcgtgttggcaggcgctgcgcagaagccggcaagcagagtgctggtagcttcccgtaatttcgcaaatgatgctacatttgagattaagaaatgtgaccttcatcgtctagaagagggccctccagtcaccacagtgctcaccagagaggatgggctcaagtactacaggatgatgcagaccgtgcgccggatggagctcaaggcggatcagctgtataagcagaaaattattcgtggtttctgtcacttgtgtgatggtcaggaagcctgctgtgtgggcctggaggctggcataaaccccacggaccatctcatcactgcctatcgagcccatggcttcaccttcactcggggcctgcctgtccgagcaattcttgcagaattaacaggacgaagaggaggctgtgctaaggggaaaggcggatcaatgcacatgtacgccaagaacttctatggcggcaacggtatcgttggagctcaggtgcccctgggtgcaggaattgctctggcctgcaagtataatggcaaagatgaggtctgtttgacattatatggtgatggtgctgctaaccagggtcagatatttgaagcttacaatatggcagcattgtggaaattaccttgtattttcatctgtgagaataaccgctatggcatgggcacatctgttgagagagcagcagccagcacggattactacaaaagaggagatttcattcctggactgagggtagatggaatggatatcttgtgtgtccgagaggcaacaaagtttgcagctgcctactgcaggtctggtaaggggcctatcctgatggagctacagacttaccgctaccatggacatagtatgagtgaccctggagtcagttatcgcactcgagaagaaatccaggaagtaagaagtaagagtgaccctattatgcttctcaaggatagaatggtgaacagcaatcttgcaagtgttgaagaattaaaggagattgatgtggaagtgaggaaagaaatcgaggatgctgcccagtttgccacggctgatccggagccgccattggaggagctaggctatcatatctacagcagtgacccacccttcgaagtgcgtggtgccaaccagtggatcaagtttaagtcagtcagttaatgggagagtattagatggatgggcgtttctcatccgttgtaagaaactctttgtgctctcaactttgacaggaaatacccagacaacaaaagtcttgaaaacatgtaaattaagggagagtaaaattgcatgcagtttgtacattgttgtattcggtgtattcatgtgaataagagtgtataggattggagatgggtaatgcagtttataaccttcatcatgtcctaggtcagttactaaaaggaacaactctgccatttggtgatgtgatcatagctttgaatgaccttgtggaggcatgctgggattaatgcaaagcacaggttagaagtgtatggtcaccatgaattgtggaggctggactctgtttggcactgaccgttatgtctttgatcaaaggctatatataatcatgtgttttaaaataagggtacttcagtcacttcaaaggtaaaataatttaattttctccatttagacatttaacaaacacaaaattgtactcccattccaaggcacactttttaacttttcacatttaagtaattacactggtttataaaatacttaggctttatctttccagcaactgctataaggtatgctgacattttaaatactaggtcaggagagacattacttacaatccggtttataaacaagtatgctctaaatcacatgtgcttgaatgaaacgaacaagggtctttctgtgtaaacgcaggatttgtgtgtgcactaacagaagctttaatcgtgagcaggtgtagggtactttttgctcattctccccagcttggcttattgtgaggactcctgcatttgtcttctgtgctgggagactgcatgccagagcctacagaggacaccaccactgcaaaacaataattttcataagaaaagcaaacttgaagccacccatctactcttcaaatgtaatctctaacttaaaagtatgtaaccttttcctagacatggtaccataggaacactgggtgatctgggtagaggtgtgggcatttaaacaatgtaaagaaaggtctggcacctcatgccttgccaacctgagaaaatgagctgtgcttgctacaacataggaaagataaatttcaaagatcggggaaactaccagcattaaaaataaaagtattcacataaaaaagccccattttattatttaaattgtttgcaggctctcttaccgtagtctgaggcaccttaggtcttccttagtgatatcattgagaatatcagaaagtgtgtaatcttcttcaacaatctgaaagattcaacatacattcaacaacataagcagcttttcaacagtatcataggaatcctttgatttagaaatttaccttttctattgtatttgcatccactccttgtagctgcaaccagtctataagctctctgttggttcccagtccgtcatggggtggtgggttctctgttccacctataaagattccaattttgttttattgtatagtaatgtataaccataaaatgcttcaaaaataacaaagtggatgtaatcatgtatccaaacagaaatgtaaatgtgctgtgaaaaggaaatgaattaaacttgtttgacccgcaaaaaaaaaaaaaaaaaaaaaaaaa

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