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2019-03-25 14:31:30, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001173456            3297 bp    mRNA    linear   PRI 08-JUL-2013
DEFINITION  Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1),
            transcript variant 4, mRNA.
ACCESSION   NM_001173456
VERSION     NM_001173456.1  GI:291084756
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3297)
  AUTHORS   Pinheiro,A., Silva,M.J., Graca,I., Silva,J., Sa,R., Sousa,M.,
            Barros,A., Tavares de Almeida,I. and Rivera,I.
  TITLE     Pyruvate dehydrogenase complex: mRNA and protein expression
            patterns of E1alpha subunit genes in human spermatogenesis
  JOURNAL   Gene 506 (1), 173-178 (2012)
   PUBMED   22750801
  REMARK    GeneRIF: Expression of the PDHA1 gene was found in all somatic
            cells, whereas expression of PDHA2 gene was restricted to germ
            cells. The switch from X-linked to autosomic gene expression
            occurred in spermatocytes.
REFERENCE   2  (bases 1 to 3297)
  AUTHORS   Giribaldi,G., Doria-Lamba,L., Biancheri,R., Severino,M., Rossi,A.,
            Santorelli,F.M., Schiaffino,C., Caruso,U., Piemonte,F. and Bruno,C.
  TITLE     Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a
            case with clinical, biochemical, and neuroradiological
            reversibility
  JOURNAL   Dev Med Child Neurol 54 (5), 472-476 (2012)
   PUBMED   22142326
  REMARK    GeneRIF: Molecular analysis of PDH1A revealed a novel hemizygous
            c.1045G>A mutation, predicting a p.A349T missense mutation.
REFERENCE   3  (bases 1 to 3297)
  AUTHORS   Sharma,R., Sharrard,M.J., Connolly,D.J. and Mordekar,S.R.
  TITLE     Unilateral periventricular leukomalacia in association with
            pyruvate dehydrogenase deficiency
  JOURNAL   Dev Med Child Neurol 54 (5), 469-471 (2012)
   PUBMED   21895644
  REMARK    GeneRIF: Skin fibroblast culture assay revealed PDH deficiency,
            confirmed by mutation analysis of the E1 alpha subunit.
REFERENCE   4  (bases 1 to 3297)
  AUTHORS   Imbard,A., Boutron,A., Vequaud,C., Zater,M., de Lonlay,P., de
            Baulny,H.O., Barnerias,C., Mine,M., Marsac,C., Saudubray,J.M. and
            Brivet,M.
  TITLE     Molecular characterization of 82 patients with pyruvate
            dehydrogenase complex deficiency. Structural implications of novel
            amino acid substitutions in E1 protein
  JOURNAL   Mol. Genet. Metab. 104 (4), 507-516 (2011)
   PUBMED   21914562
  REMARK    GeneRIF: We provide an efficient stepwise strategy for mutation
            screening in pyruvate dehydrogenase complex genes and expand the
            growing list of PDHA1 mutations analyzed at the structural level
REFERENCE   5  (bases 1 to 3297)
  AUTHORS   Grassian,A.R., Metallo,C.M., Coloff,J.L., Stephanopoulos,G. and
            Brugge,J.S.
  TITLE     Erk regulation of pyruvate dehydrogenase flux through PDK4
            modulates cell proliferation
  JOURNAL   Genes Dev. 25 (16), 1716-1733 (2011)
   PUBMED   21852536
  REMARK    GeneRIF: Data show that overexpression of ErbB2 maintains PDH flux
            by suppressing PDK4 expression in an Erk-dependent manner.
REFERENCE   6  (bases 1 to 3297)
  AUTHORS   De Meirleir,L., Lissens,W., Vamos,E. and Liebaers,I.
  TITLE     Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair
            insertion mutation in the E1 alpha subunit
  JOURNAL   Hum. Genet. 88 (6), 649-652 (1992)
   PUBMED   1551669
REFERENCE   7  (bases 1 to 3297)
  AUTHORS   Ito,M., Huq,A.H., Naito,E., Saijo,T., Takeda,E. and Kuroda,Y.
  TITLE     Mutation of E1 alpha gene in a female patient with pyruvate
            dehydrogenase deficiency due to rapid degradation of E1 protein
  JOURNAL   J. Inherit. Metab. Dis. 15 (6), 848-856 (1992)
   PUBMED   1338114
REFERENCE   8  (bases 1 to 3297)
  AUTHORS   Dahl,H.H., Brown,G.K., Brown,R.M., Hansen,L.L., Kerr,D.S.,
            Wexler,I.D., Patel,M.S., De Meirleir,L., Lissens,W., Chun,K. et al.
  TITLE     Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha
            gene
  JOURNAL   Hum. Mutat. 1 (2), 97-102 (1992)
   PUBMED   1301207
  REMARK    Review article
REFERENCE   9  (bases 1 to 3297)
  AUTHORS   Dahl,H.H., Hansen,L.L., Brown,R.M., Danks,D.M., Rogers,J.G. and
            Brown,G.K.
  TITLE     X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in
            heterozygous females: variable manifestation of the same mutation
  JOURNAL   J. Inherit. Metab. Dis. 15 (6), 835-847 (1992)
   PUBMED   1293379
REFERENCE   10 (bases 1 to 3297)
  AUTHORS   Chun,K., MacKay,N., Petrova-Benedict,R. and Robinson,B.H.
  TITLE     Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon
            II of the pyruvate dehydrogenase (PDH) E1 alpha gene
  JOURNAL   Am. J. Hum. Genet. 49 (2), 414-420 (1991)
   PUBMED   1907799
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC361191.1, AK296457.1,
            AK296341.1, AL732326.4 and R49470.1.
            
            Summary: The pyruvate dehydrogenase (PDH) complex is a
            nuclear-encoded mitochondrial multienzyme complex that catalyzes
            the overall conversion of pyruvate to acetyl-CoA and CO(2), and
            provides the primary link between glycolysis and the tricarboxylic
            acid (TCA) cycle. The PDH complex is composed of multiple copies of
            three enzymatic components: pyruvate dehydrogenase (E1),
            dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase
            (E3). The E1 enzyme is a heterotetramer of two alpha and two beta
            subunits. This gene encodes the E1 alpha 1 subunit containing the
            E1 active site, and plays a key role in the function of the PDH
            complex. Mutations in this gene are associated with pyruvate
            dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Mar
            2010].
            
            Transcript Variant: This variant (4) is missing an in-frame coding
            exon compared to variant 1, resulting in a shorter isoform (4)
            compared to isoform 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 :: AK296457.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025083, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-585               DC361191.1         1-585
            586-1527            AK296457.1         500-1441
            1528-1804           AK296341.1         1608-1884
            1805-3251           AL732326.4         116661-118107
            3252-3297           R49470.1           1-46                c
FEATURES             Location/Qualifiers
     source          1..3297
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.1"
     gene            1..3297
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /note="pyruvate dehydrogenase (lipoamide) alpha 1"
                     /db_xref="GeneID:5160"
                     /db_xref="HGNC:8806"
                     /db_xref="MIM:300502"
     exon            1..202
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /inference="alignment:Splign:1.39.8"
     STS             55..125
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /standard_name="GDB:192510"
                     /db_xref="UniSTS:99711"
     CDS             146..1225
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /EC_number="1.2.4.1"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 4; pyruvate dehydrogenase E1 component subunit
                     alpha, somatic form, mitochondrial; PDHE1-A type I;
                     pyruvate dehydrogenase complex, E1-alpha polypeptide 1"
                     /codon_start=1
                     /product="pyruvate dehydrogenase E1 component subunit
                     alpha, somatic form, mitochondrial isoform 4 precursor"
                     /protein_id="NP_001166927.1"
                     /db_xref="GI:291084757"
                     /db_xref="CCDS:CCDS55382.1"
                     /db_xref="GeneID:5160"
                     /db_xref="HGNC:8806"
                     /db_xref="MIM:300502"
                     /translation="
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS
"
     transit_peptide 146..232
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
     mat_peptide     233..1222
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /product="pyruvate dehydrogenase E1 component subunit
                     alpha, somatic form, mitochondrial isoform 4"
     misc_feature    317..1162
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /note="pyruvate dehydrogenase E1 component, alpha subunit;
                     Region: PDH_E1_alph_y; TIGR03182"
                     /db_xref="CDD:188297"
     misc_feature    335..1111
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /note="Thiamine pyrophosphate (TPP) family, E1 of
                     PDC_ADC_BCADC subfamily, TPP-binding module; composed of
                     proteins similar to the E1 components of the human
                     pyruvate dehydrogenase complex (PDC), the acetoin
                     dehydrogenase complex (ADC) and the branched chain...;
                     Region: TPP_E1_PDC_ADC_BCADC; cd02000"
                     /db_xref="CDD:48163"
     misc_feature    order(407..409,563..565,638..643,656..658,665..667,
                     677..679,689..691,734..745,785..787,938..940,950..952)
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /note="tetramer interface [polypeptide binding]; other
                     site"
                     /db_xref="CDD:48163"
     misc_feature    order(497..502,638..640,644..646,725..727,731..733,
                     926..928)
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /note="TPP-binding site [chemical binding]; other site"
                     /db_xref="CDD:48163"
     misc_feature    order(623..625,629..631,635..637,650..652,656..661,
                     677..682,689..691)
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /note="heterodimer interface [polypeptide binding]; other
                     site"
                     /db_xref="CDD:48163"
     misc_feature    order(911..931,935..967,992..1000)
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /note="phosphorylation loop region [posttranslational
                     modification]"
                     /db_xref="CDD:48163"
     exon            203..262
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /inference="alignment:Splign:1.39.8"
     exon            263..436
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /inference="alignment:Splign:1.39.8"
     STS             263..436
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /standard_name="Pdha1"
                     /db_xref="UniSTS:144154"
     STS             264..378
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /standard_name="PDHA1"
                     /db_xref="UniSTS:498178"
     exon            437..563
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /inference="alignment:Splign:1.39.8"
     exon            564..655
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /inference="alignment:Splign:1.39.8"
     exon            656..811
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /inference="alignment:Splign:1.39.8"
     exon            812..883
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /inference="alignment:Splign:1.39.8"
     exon            884..951
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /inference="alignment:Splign:1.39.8"
     STS             895..1248
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /standard_name="GDB:180536"
                     /db_xref="UniSTS:155108"
     exon            952..1060
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /inference="alignment:Splign:1.39.8"
     exon            1061..3279
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /inference="alignment:Splign:1.39.8"
     STS             1131..1307
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /standard_name="MAOA"
                     /db_xref="UniSTS:480279"
     STS             1154..1234
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /standard_name="GDB:438035"
                     /db_xref="UniSTS:99044"
     STS             1232..1322
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /standard_name="DXS9734"
                     /db_xref="UniSTS:43864"
     STS             1243..1381
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /standard_name="RH65815"
                     /db_xref="UniSTS:1029"
     STS             2829..2995
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /standard_name="RH93821"
                     /db_xref="UniSTS:92110"
     STS             3010..3234
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /standard_name="RH81017"
                     /db_xref="UniSTS:84251"
     variation       complement(3094)
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:15943"
     polyA_signal    3235..3240
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
     polyA_site      3279
                     /gene="PDHA1"
                     /gene_synonym="PDHA; PDHCE1A; PHE1A"
ORIGIN      
agcgcatgacgttattacgactctgtcacgccgcggtgcgactgaggcgtggcgtctgctggggcacctgaaggagacttgggggcacccgcgtcgtgcctcctgggttgtgaggagtcgccgctgccgccactgcctgtgcttcatgaggaagatgctcgccgccgtctcccgcgtgctgtctggcgcttctcagaagccggcaagcagagtgctggtagcatcccgtaattttgcaaatgatgctacatttgaaattaagaaatgtgaccttcaccggctggaagaaggccctcctgtcacaacagtgctcaccagggaggatgggctcaaatactacaggatgatgcagactgtacgccgaatggagttgaaagcagatcagctgtataaacagaaaattattcgtggtttctgtcacttgtgtgatggtcaggaagcttgctgtgtgggcctggaggccggcatcaaccccacagaccatctcatcacagcctaccgggctcacggctttactttcacccggggcctttccgtccgagaaattctcgcagagcttacaggacgaaaaggaggttgtgctaaagggaaaggaggatcgatgcacatgtatgccaagaacttctacgggggcaatggcatcgtgggagcgcagggccagatattcgaagcttacaacatggcagctttgtggaaattaccttgtattttcatctgtgagaataatcgctatggaatgggaacgtctgttgagagagcggcagccagcactgattactacaagagaggcgatttcattcctgggctgagagtggatggaatggatatcctgtgcgtccgagaggcaacaaggtttgctgctgcctattgtagatctgggaaggggcccatcctgatggagctgcagacttaccgttaccacggacacagtatgagtgaccctggagtcagttaccgtacacgagaagaaattcaggaagtaagaagtaagagtgaccctattatgcttctcaaggacaggatggtgaacagcaatcttgccagtgtggaagaactaaaggaaattgatgtggaagtgaggaaggagattgaggatgctgcccagtttgccacggccgatcctgagccacctttggaagagctgggctaccacatctactccagcgacccaccttttgaagttcgtggtgccaatcagtggatcaagtttaagtcagtcagttaaggggaggagaaggagaggttataccttcagggggctaccagacagtgttctcaacttggttaaggaggaagaaaacccagtcaatgaaattcaatgaaattcttggaaacttccattaagtgtgtagattgagcaggtagtaattgcatgcagtttgtacattagtgcattaaaagatgaattattgagtgcttaaagattatttttgacttaaaatagtatactttgaacaaatactctaattatgaaaaggaagaacaattccttgtatgcctgtttcccctgcccccagccacctttttgggaggagaccattatggcggggcccctcacagcattctaccaaccatagcacccaccccgagcagcgctggtgctgcagcctgttcgcgctgaccatttctctacaagatacaatatttattatcaggcaagaggacagttccattttaaaataagacttttgtaatcattccaattttgtaatcatttcaaaggccacataacttagttttctctacttacacattcagtataaatatgaagctattttctgttcatatcaaacattaactacaaggcacattcgtatcagttttgtgtttctcaaattgaagtaccataccagttctgaggcagtgtcccagcttccatgtttgttaaataccccttgtttgtttcaccattccagcaagtgctgaagggtgtactttttttgagacagggtcgggctctgttgcccaggctggagtgcagtggtgtgatcatggctcactgcagcctccacacctcctgggctcaagcaatcctcccacctcagcctcctgcatagctgggactacaagtgaatttcctaatattccgggaggtcaaaaccaaggctcactgttttcacaatacacacagttctatgtttataaataacaggtttcaaaagaaactcaggacagtatttaaaacaagttcttaaactattaattgaacaatggcatttttaaatatgtaaacacagcggaattcgtgtatacactaacagaagctttaacaaaacatgtagcgtggtgggacactctgccacagcttagctgattggtatcaagccttgtctttggtttctgaggcctcctgagcccttctgtactgggagaccgcactccagagtctgcagaggagaccacccctgggaaacaaacacagctgtcttcagagtcagtgcttcaagccaacagagcttaaaactgcagtccctaatttaaaaacctaatgaaaataaaaacattctcctcacatatggaggtgacgctcgtgtcccagcagtagtaggacatggccttagaggtacgtacctgcagagagctggctatttcaaatgactcgggaacaagaaggcaggctgcagtttaaagaagggggtgggtccagcgtgcaggcacgcttgccatgtgcctccacccactcccagccaggcattaatggcaggagattggccagctcttctctgtcacattcctatttctgacttctgcctggctttcagtttctgccccaccttggctttttcccagcttgaacctaatagaactccagagtttggggggaggcccagccctttgttttctgctcttgaagcatattcacacataaaaagttgtattctcttatacaaactgttttgaggctcttaccgtagtcgaaggtatcttagatcttccttagtgatctcattaagaatatccgaaagtgtataaccctcttcaacaatctgaaacaaagatcagatccttaagagctgagcagctgtgtaacaacagcataagaatttctttgttgtaaatttaccttttcaattgtctttgcatcagctccttgcagccgcaaccagtctataagctctttatctgttctctgcccgtaggggcctgctgggttctctgtaatacctgtaacgattggcaatttgttatatattagtctaaccataaaactcttcaaaagtaaccagttggattaataaatgattccagaatgtaaatgtgatgtgaaaaagagatgaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5160 -> Molecular function: GO:0004738 [pyruvate dehydrogenase activity] evidence: IDA
            GeneID:5160 -> Molecular function: GO:0004739 [pyruvate dehydrogenase (acetyl-transferring) activity] evidence: IEA
            GeneID:5160 -> Biological process: GO:0006086 [acetyl-CoA biosynthetic process from pyruvate] evidence: IDA
            GeneID:5160 -> Biological process: GO:0006090 [pyruvate metabolic process] evidence: TAS
            GeneID:5160 -> Biological process: GO:0006096 [glycolysis] evidence: IEA
            GeneID:5160 -> Biological process: GO:0006099 [tricarboxylic acid cycle] evidence: IDA
            GeneID:5160 -> Biological process: GO:0010510 [regulation of acetyl-CoA biosynthetic process from pyruvate] evidence: TAS
            GeneID:5160 -> Biological process: GO:0044237 [cellular metabolic process] evidence: TAS
            GeneID:5160 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:5160 -> Cellular component: GO:0005739 [mitochondrion] evidence: TAS
            GeneID:5160 -> Cellular component: GO:0005759 [mitochondrial matrix] evidence: TAS
            GeneID:5160 -> Cellular component: GO:0045254 [pyruvate dehydrogenase complex] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_001166927 -> EC 1.2.4.1

by @meso_cacase at DBCLS
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