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Aliases for PDHA1 Gene

Aliases for PDHA1 Gene

  • Pyruvate Dehydrogenase (Lipoamide) Alpha 1 2 3
  • PHE1A 3 4 6
  • PDHE1-A Type I 3 4
  • EC 4 63
  • Pyruvate Dehydrogenase E1 Component Subunit Alpha, Somatic Form, Mitochondrial 3
  • Pyruvate Dehydrogenase Complex, E1-Alpha Polypeptide 1 3
  • PDHCE1A 3
  • PDHAD 3
  • PDHA 3

External Ids for PDHA1 Gene

Previous HGNC Symbols for PDHA1 Gene

  • PDHA

Previous GeneCards Identifiers for PDHA1 Gene

  • GC0XP018898
  • GC0XP018028
  • GC0XP018564
  • GC0XP018723
  • GC0XP019121
  • GC0XP017111

Summaries for PDHA1 Gene

Entrez Gene Summary for PDHA1 Gene

  • 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]

GeneCards Summary for PDHA1 Gene

PDHA1 (Pyruvate Dehydrogenase (Lipoamide) Alpha 1) is a Protein Coding gene. Diseases associated with PDHA1 include pyruvate dehydrogenase e1-alpha deficiency and x-linked leigh syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include pyruvate dehydrogenase (acetyl-transferring) activity and pyruvate dehydrogenase activity. An important paralog of this gene is BCKDHA.

UniProtKB/Swiss-Prot for PDHA1 Gene

  • The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

Gene Wiki entry for PDHA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDHA1 Gene

Genomics for PDHA1 Gene

Regulatory Elements for PDHA1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PDHA1 Gene

19,343,893 bp from pter
19,361,707 bp from pter
17,815 bases
Plus strand

Genomic View for PDHA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDHA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDHA1 Gene

Proteins for PDHA1 Gene

  • Protein details for PDHA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A5YVE9
    • B2R5P7
    • B7Z3T7
    • B7Z3X5
    • Q53H41
    • Q5JPT8
    • Q9NP12
    • Q9UBJ8
    • Q9UBU0
    • Q9UNG4
    • Q9UNG5

    Protein attributes for PDHA1 Gene

    390 amino acids
    Molecular mass:
    43296 Da
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    • Heterotetramer of two PDHA1 and two PDHB subunits. The heterotetramer interacts with DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules.
    • Sequence=AAA60055.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAB59581.1; Type=Frameshift; Positions=106, 175; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PDHA1 Gene

    Alternative splice isoforms for PDHA1 Gene


neXtProt entry for PDHA1 Gene

Proteomics data for PDHA1 Gene at MOPED

Post-translational modifications for PDHA1 Gene

  • Acetylation alters the phosphorylation pattern. Deacetylated by SIRT3 (By similarity).
  • Phosphorylation at Ser-232, Ser-293 and Ser-300 by PDK family kinases inactivates the enzyme; for this phosphorylation at a single site is sufficient. Dephosphorylation at all three sites, i.e. at Ser-232, Ser-293 and Ser-300, is required for reactivation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PDHA1 (PDHA1)

Domains for PDHA1 Gene

Protein Domains for PDHA1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PDHA1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for PDHA1 Gene

Function for PDHA1 Gene

Molecular function for PDHA1 Gene

GENATLAS Biochemistry:
pyruvate dehydrogenase,E1 alpha polypeptide 1,somatic tissues
UniProtKB/Swiss-Prot CatalyticActivity:
Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Pyruvate dehydrogenase activity is inhibited by phosphorylation of PDHA1; it is reactivated by dephosphorylation.
UniProtKB/Swiss-Prot Function:
The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

Enzyme Numbers (IUBMB) for PDHA1 Gene

Gene Ontology (GO) - Molecular Function for PDHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004738 pyruvate dehydrogenase activity IDA 19081061
GO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity IEA --
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor --
genes like me logo Genes that share ontologies with PDHA1: view
genes like me logo Genes that share phenotypes with PDHA1: view

Animal Models for PDHA1 Gene

MGI Knock Outs for PDHA1:

Animal Model Products

miRNA for PDHA1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDHA1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for PDHA1 Gene

Localization for PDHA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDHA1 Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for PDHA1 Gene COMPARTMENTS Subcellular localization image for PDHA1 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PDHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IDA 20833797
GO:0005759 mitochondrial matrix TAS --
GO:0043231 intracellular membrane-bounded organelle --
GO:0045254 pyruvate dehydrogenase complex IDA 19081061
genes like me logo Genes that share ontologies with PDHA1: view

Pathways for PDHA1 Gene

genes like me logo Genes that share pathways with PDHA1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PDHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process IEA --
GO:0006086 acetyl-CoA biosynthetic process from pyruvate IDA 19081061
GO:0006090 pyruvate metabolic process TAS --
GO:0006096 glycolytic process IEA --
GO:0006099 tricarboxylic acid cycle IDA 19081061
genes like me logo Genes that share ontologies with PDHA1: view

Compounds for PDHA1 Gene

(1) Drugbank Compounds for PDHA1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • 1,4-dihydronicotinamide adenine dinucleotide
606-68-8 439153 Target nutraceutical

(13) HMDB Compounds for PDHA1 Gene

Compound Synonyms Cas Number PubMed IDs
2-(a-Hydroxyethyl)thiamine diphosphate
  • 2-Hydroxyethyl-ThPP
2-Ketobutyric acid
  • 2-Ketobutanoate
  • S-Acetyl coenzyme A
Alpha-ketoisovaleric acid
  • 2-Ketoisovalerate
Carbon dioxide
  • Carbon oxide

(18) Novoseek inferred chemical compound relationships for PDHA1 Gene

Compound -log(P) Hits PubMed IDs
pyruvate 90.2 79
acetyl-coa 63.9 1
dichloroacetate 57.6 3
acetyl-l-carnitine 45.6 1
glycogen 45.5 4
genes like me logo Genes that share compounds with PDHA1: view

Transcripts for PDHA1 Gene

Unigene Clusters for PDHA1 Gene

Pyruvate dehydrogenase (lipoamide) alpha 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDHA1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDHA1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^
SP1: - - - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - -
SP6: - - - - - - - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - - - - -
SP11: - - - -
SP12: - - -
SP14: - -

ExUns: 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b
SP1: -
SP5: -
SP10: -

Relevant External Links for PDHA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDHA1 Gene

mRNA expression in normal human tissues for PDHA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDHA1 Gene

This gene is overexpressed in Heart - Left Ventricle (6.7) and Muscle - Skeletal (4.2).

Protein differential expression in normal tissues for PDHA1 Gene

This gene is overexpressed in Heart (13.6) and Brain (7.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDHA1 Gene

SOURCE GeneReport for Unigene cluster for PDHA1 Gene Hs.530331

mRNA Expression by UniProt/SwissProt for PDHA1 Gene

Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with PDHA1: view

Expression partners for PDHA1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for PDHA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDHA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PDHA1 35
  • 90.94 (n)
  • 97.95 (a)
PDHA1 36
  • 98 (a)
(Canis familiaris)
Mammalia PDHA1 35
  • 90.34 (n)
  • 98.24 (a)
PDHA1 36
  • 99 (a)
(Mus musculus)
Mammalia Pdha1 35
  • 88.55 (n)
  • 98.21 (a)
Pdha1 16
Pdha1 36
  • 98 (a)
(Pan troglodytes)
Mammalia PDHA1 35
  • 99.23 (n)
  • 99.74 (a)
PDHA1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Pdha1 35
  • 89.32 (n)
  • 98.46 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
-- 36
  • 88 (a)
(Gallus gallus)
Aves PDHA1 35
  • 79.57 (n)
  • 86.92 (a)
PDHA1 36
  • 83 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pdha1 35
  • 74.96 (n)
  • 85.38 (a)
Str.20256 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.18852 35
(Danio rerio)
Actinopterygii pdha1a 35
  • 72.74 (n)
  • 80.77 (a)
wufo96f03 35
pdha1a 36
  • 80 (a)
pdha1b 36
  • 77 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12355 35
fruit fly
(Drosophila melanogaster)
Insecta CG7010 37
  • 58 (a)
CG7024 37
  • 53 (a)
CG7024 36
  • 37 (a)
l(1)G0334 36
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004773 35
  • 60.28 (n)
  • 63.83 (a)
(Caenorhabditis elegans)
Secernentea pdha-1 35
  • 60.45 (n)
  • 62.71 (a)
pdha-1 36
  • 55 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR103W 35
  • 58.82 (n)
  • 57.74 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12001g 35
  • 56.24 (n)
  • 55.16 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDA1 35
  • 55.24 (n)
  • 56.09 (a)
PDA1 36
  • 44 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons E1 ALPHA 35
  • 59.14 (n)
  • 56.43 (a)
(Hordeum vulgare)
Liliopsida Hv.7171 35
(Oryza sativa)
Liliopsida Os06g0246500 35
  • 56.39 (n)
  • 52.1 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4060 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06482 35
  • 57.04 (n)
  • 54.97 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pda1 35
  • 55.69 (n)
  • 53.94 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
Species with no ortholog for PDHA1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDHA1 Gene

Gene Tree for PDHA1 (if available)
Gene Tree for PDHA1 (if available)

Paralogs for PDHA1 Gene

Paralogs for PDHA1 Gene Pseudogenes for PDHA1 Gene

genes like me logo Genes that share paralogs with PDHA1: view

Variants for PDHA1 Gene

Sequence variations from dbSNP and Humsavar for PDHA1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1126565 other 19,355,721(+) GAGGC(A/C/G)ACAAG reference, synonymous-codon
rs2228067 - 19,359,015(+) GTGGA(A/C)GAACT reference, missense
rs2229137 Pathogenic, - 19,357,664(+) TCCTG(A/C)TGGAG reference, missense
rs2643454 -- 19,353,234(-) GAAAG(G/T)TTTTG intron-variant
rs2643455 -- 19,350,562(-) TCagc(C/G)aggca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDHA1 Gene

Variant ID Type Subtype PubMed ID
esv22876 CNV Loss 19812545
esv2668327 CNV Deletion 23128226

Relevant External Links for PDHA1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDHA1 Gene

Disorders for PDHA1 Gene

(2) OMIM Diseases for PDHA1 Gene (300502)


  • Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. {ECO:0000269 PubMed:1293379, ECO:0000269 PubMed:1338114, ECO:0000269 PubMed:1551669, ECO:0000269 PubMed:1909401, ECO:0000269 PubMed:7545958, ECO:0000269 PubMed:7573035, ECO:0000269 PubMed:7757088, ECO:0000269 PubMed:7887409, ECO:0000269 PubMed:7967473, ECO:0000269 PubMed:8032855, ECO:0000269 PubMed:8504306, ECO:0000269 PubMed:8664900, ECO:0000269 PubMed:8844217, ECO:0000269 PubMed:9671272}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) Novoseek inferred disease relationships for PDHA1 Gene

Disease -log(P) Hits PubMed IDs
leigh syndrome 71 4
acidosis lactic 70.8 5
coffin-lowry syndrome 69 1
metabolic disorder 8.12 1
hypertrophy 0 1

Genatlas disease for PDHA1 Gene

overwhelming lactic acidosis at birth,Leigh syndrome,with death in neonatal period or progressive dysfunction with moderate lactic acidosis or carbohydrate-induced episodic ataxia with mild developmental delay in males

Relevant External Links for PDHA1

Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PDHA1: view

Publications for PDHA1 Gene

  1. X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. (PMID: 1293379) Dahl H.-H.M. … Brown G.K. (J. Inherit. Metab. Dis. 1992) 3 4 23
  2. An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. (PMID: 7573035) Takakubo F. … Dahl H.-H.M. (Am. J. Hum. Genet. 1995) 3 4 23
  3. Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. (PMID: 1909401) Hansen L.L. … Dahl H.-H.M. (J. Inherit. Metab. Dis. 1991) 3 4 23
  4. Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase alpha-subunit. (PMID: 2227443) Koike K. … Koike M. (Gene 1990) 3 4 23
  5. Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS). (PMID: 8844217) Tripatara A. … Patel M.S. (Hum. Mutat. 1996) 3 4 23

Products for PDHA1 Gene

Sources for PDHA1 Gene

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