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2025-05-09 17:09:33, 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 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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