Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PDHA1 Gene

Aliases for PDHA1 Gene

  • Pyruvate Dehydrogenase E1 Alpha 1 Subunit 2 3 5
  • Pyruvate Dehydrogenase E1 Component Subunit Alpha, Somatic Form, Mitochondrial 2 3
  • Pyruvate Dehydrogenase (Lipoamide) Alpha 1 2 3
  • Pyruvate Dehydrogenase Alpha 1 2 3
  • PDHE1-A Type I 3 4
  • PHE1A 3 4
  • Pyruvate Dehydrogenase Complex, E1-Alpha Polypeptide 1 3
  • Pyruvate Dehydrogenase E1 Subunit 3
  • EC 1.2.4.1 4
  • 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 E1 Alpha 1 Subunit) is a Protein Coding gene. Diseases associated with PDHA1 include Pyruvate Dehydrogenase E1-Alpha Deficiency and Leigh Syndrome With Leukodystrophy. Among its related pathways are Central carbon metabolism in cancer and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor and pyruvate dehydrogenase activity. An important paralog of this gene is PDHA2.

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

Additional gene information for PDHA1 Gene

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

Genomics for PDHA1 Gene

GeneHancer (GH) Regulatory Elements for PDHA1 Gene

Promoters and enhancers for PDHA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ019342 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 657 +0.1 108 2.8 PKNOX1 SMAD1 ATF1 ARID4B SIN3A DMAP1 BRCA1 YY1 POLR2B GLIS2 PDHA1 PHKA2 PHKA2-AS1 GC0XP019376
GH0XJ019343 Enhancer 0.4 ENCODE 650.7 -1.4 -1395 0.2 NFIC NFIA ZBTB17 PDHA1 PHKA2 PHKA2-AS1 GC0XP019197
GH0XJ019357 Enhancer 0.4 ENCODE 5.4 +14.9 14865 1.9 USF2 CEBPB PDHA1 BCLAF3 GC0XP019376
GH0XJ019372 Promoter/Enhancer 1.2 Ensembl ENCODE 0.3 +29.0 28959 1.1 CTCF MXI1 MZF1 SIN3A ZNF384 ZIC2 RAD21 CC2D1A ZNF335 ZBTB48 EIF1AX GC0XP019376 PDHA1 MAP3K15
GH0XJ019334 Enhancer 0.8 ENCODE 0.4 -9.6 -9555 0.2 BRCA1 RAD21 RFX5 ARID2 SCRT2 ZNF143 KLF13 ZNF654 ZNF680 ZNF362 BCLAF3 PDHA1 GC0XP019197
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDHA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDHA1 gene promoter:
  • HFH-3
  • FOXI1
  • c-Myb
  • Egr-3
  • Ik-2
  • Ik-1
  • RORalpha1
  • Max1
  • c-Myc
  • COMP1

Genomic Locations for PDHA1 Gene

Genomic Locations for PDHA1 Gene
chrX:19,343,893-19,361,707
(GRCh38/hg38)
Size:
17,815 bases
Orientation:
Plus strand
chrX:19,362,011-19,379,825
(GRCh37/hg19)
Size:
17,815 bases
Orientation:
Plus strand

Genomic View for PDHA1 Gene

Genes around PDHA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDHA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P08559-ODPA_HUMAN
    Recommended name:
    Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
    Protein Accession:
    P08559
    Secondary Accessions:
    • A5YVE9
    • B2R5P7
    • B7Z3T7
    • B7Z3X5
    • Q53H41
    • Q5JPT8
    • Q9NP12
    • Q9UBJ8
    • Q9UBU0
    • Q9UNG4
    • Q9UNG5

    Protein attributes for PDHA1 Gene

    Size:
    390 amino acids
    Molecular mass:
    43296 Da
    Cofactor:
    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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for PDHA1 Gene

Post-translational modifications for PDHA1 Gene

  • 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.
  • Acetylation alters the phosphorylation pattern. Deacetylated by SIRT3 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PDHA1 Gene

Domains & Families for PDHA1 Gene

Gene Families for PDHA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

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 UniProtKB/Swiss-Prot for PDHA1 Gene

Function for PDHA1 Gene

Molecular function for PDHA1 Gene

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.
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.
GENATLAS Biochemistry:
pyruvate dehydrogenase,E1 alpha polypeptide 1,somatic tissues

Enzyme Numbers (IUBMB) for PDHA1 Gene

Phenotypes From GWAS Catalog 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:0005515 protein binding IPI 12651851
GO:0016491 oxidoreductase activity IEA --
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor IEA --
genes like me logo Genes that share ontologies with PDHA1: view
genes like me logo Genes that share phenotypes with PDHA1: view

Human Phenotype Ontology for PDHA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDHA1 Gene

MGI Knock Outs for PDHA1:

Animal Model Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDHA1

Clone Products

  • Addgene plasmids for PDHA1

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

Localization for PDHA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDHA1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDHA1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA,TAS --
GO:0005759 mitochondrial matrix TAS --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with PDHA1: view

Pathways & Interactions for PDHA1 Gene

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

SIGNOR curated interactions for PDHA1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PDHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006086 acetyl-CoA biosynthetic process from pyruvate IDA 19081061
GO:0006090 pyruvate metabolic process TAS --
GO:0006099 tricarboxylic acid cycle IDA,IEA 19081061
genes like me logo Genes that share ontologies with PDHA1: view

Drugs & Compounds for PDHA1 Gene

(18) Drugs for PDHA1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Pyruvic acid Approved, Investigational Nutra 0
2-Ketobutyric acid Experimental Pharma 0
alpha-ketoisovalerate Experimental Pharma 0

(12) Additional Compounds for PDHA1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
2-(a-Hydroxyethyl)thiamine diphosphate
  • 2-(alpha-Hydroxyethyl)thiamine diphosphate
  • 2-Hydroxyethyl-THPP
  • 2-(a-Hydroxyethyl)thiamine diphosphoric acid
  • 2-(alpha-Hydroxyethyl)thiamine diphosphoric acid
  • 2-(α-hydroxyethyl)thiamine diphosphate
10055-47-7
Lipoamide
  • 1,2-Dithiolane-3-pentanamide
  • alpha-Lipoic acid amide
  • Lipoacin
  • Thioctamide
  • Thioctic acid amide
940-69-2
S-Acetyldihydrolipoamide
  • 6-S-Acetyldihydrolipoamide
  • 6-Acetylsulfanyl-8-sulfanyl-octanamide
  • S-[6-amino-6-oxo-1-(2-Sulfanylethyl)hexyl] ethanethioate
  • S-[6-amino-6-oxo-1-(2-Sulfanylethyl)hexyl] ethanethioic acid
S-Acetyldihydrolipoamide-E
  • 8-S-Acetyldihydrolipoamide
  • Dihydrolipoyllysine-residue acetyltransferase]S-acetyldihydrolipoyllysine
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDHA1

Clone Products

  • Addgene plasmids for PDHA1

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: - - - - - -
SP10:
SP11: - - - -
SP12: - - -
SP13:
SP14: - -
SP15:

ExUns: 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b
SP1: -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PDHA1 Gene

GeneLoc Exon Structure for
PDHA1
ECgene alternative splicing isoforms for
PDHA1

Expression for PDHA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDHA1 Gene

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

This gene is overexpressed in Heart - Left Ventricle (x6.7) and Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for PDHA1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDHA1 Gene



Protein tissue co-expression partners for PDHA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDHA1 Gene:

PDHA1

SOURCE GeneReport for Unigene cluster for PDHA1 Gene:

Hs.530331

mRNA Expression by UniProt/SwissProt for PDHA1 Gene:

P08559-ODPA_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PDHA1 Gene

  • Nervous system(4.9)
  • Muscle(4.7)
  • Liver(4.6)
  • Blood(4.5)
  • Heart(3.1)
  • Lung(3.1)
  • Kidney(2.9)
  • Intestine(2.7)
  • Skin(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDHA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • meninges
  • neck
  • nose
  • skull
Thorax:
  • diaphragm
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PDHA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PDHA1 Gene

Orthologs for PDHA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDHA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDHA1 34 33
  • 99.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PDHA1 34 33
  • 90.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PDHA1 34 33
  • 90.34 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pdha1 33
  • 89.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 89 (a)
ManyToMany
-- 34
  • 88 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Pdha1 16 34 33
  • 88.55 (n)
chicken
(Gallus gallus)
Aves PDHA1 34 33
  • 79.57 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pdha1 33
  • 74.96 (n)
Str.20256 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18852 33
zebrafish
(Danio rerio)
Actinopterygii pdha1b 34
  • 77 (a)
ManyToMany
pdha1a 34 33
  • 72.74 (n)
ManyToMany
wufo96f03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12355 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004773 33
  • 60.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7010 35
  • 58 (a)
l(1)G0334 34
  • 49 (a)
ManyToMany
CG7024 34 35
  • 37 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pdha-1 34 33
  • 60.45 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR103W 33
  • 58.82 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12001g 33
  • 56.24 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDA1 34 33
  • 55.24 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons E1 ALPHA 33
  • 59.14 (n)
rice
(Oryza sativa)
Liliopsida Os06g0246500 33
  • 56.39 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.7171 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToMany
Cin.4060 33
bread mold
(Neurospora crassa)
Ascomycetes NCU06482 33
  • 57.04 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pda1 33
  • 55.69 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4060 33
Species where no ortholog for PDHA1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for PDHA1 (if available)
TreeFam:
Gene Tree for PDHA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDHA1: view image

Paralogs for PDHA1 Gene

Paralogs for PDHA1 Gene

(2) SIMAP similar genes for PDHA1 Gene using alignment to 12 proteins:

  • ODPA_HUMAN
  • A5YPB6_HUMAN
  • P78557_HUMAN
  • Q5JPT9_HUMAN
  • Q5JPU0_HUMAN
  • Q5JPU1_HUMAN
  • Q5JPU2_HUMAN
  • Q5JPU3_HUMAN
  • Q6LCA3_HUMAN
  • Q99724_HUMAN
  • Q99725_HUMAN
  • Q9UNV7_HUMAN

Pseudogenes.org 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 Variation AA Info Type
rs1057518695 uncertain-significance, Pyruvate dehydrogenase E1-alpha deficiency 19,353,090(+) G/A coding_sequence_variant, missense_variant
rs1057518702 pathogenic, Pyruvate dehydrogenase E1-alpha deficiency 19,351,258(+) A/G intron_variant, splice_acceptor_variant
rs1057518756 uncertain-significance, Epileptic encephalopathy, Seizures 19,349,319(+) G/C coding_sequence_variant, missense_variant
rs121917898 pathogenic, Pyruvate dehydrogenase E1-alpha deficiency 19,355,393(+) A/C coding_sequence_variant, missense_variant
rs137853250 pathogenic, uncertain-significance, Pyruvate dehydrogenase E1-alpha deficiency, not specified, Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] 19,359,613(+) G/A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv503e215 CNV deletion 23714750
esv22876 CNV loss 19812545
esv2668327 CNV deletion 23128226
esv3573627 CNV loss 25503493

Variation tolerance for PDHA1 Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.11; 61.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDHA1 Gene

Human Gene Mutation Database (HGMD)
PDHA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDHA1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PDHA1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PDHA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pyruvate dehydrogenase e1-alpha deficiency
  • pdhad
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
coffin-lowry syndrome
  • cls
lactic acidosis
  • acidosis lactic
pyruvate dehydrogenase e3-binding protein deficiency
  • pdhxd
- elite association - COSMIC cancer census association via MalaCards
Search PDHA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ODPA_HUMAN
  • 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:27864847, 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:8199595, ECO:0000269 PubMed:8498846, ECO:0000269 PubMed:8504306, ECO:0000269 PubMed:8664900, ECO:0000269 PubMed:8844217, ECO:0000269 PubMed:9266390, ECO:0000269 PubMed:9671272}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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

Additional Disease Information for PDHA1

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

Publications for PDHA1 Gene

  1. X chromosome evidence for ancient human histories. (PMID: 10077682) Harris EE … Hey J (Proceedings of the National Academy of Sciences of the United States of America 1999) 3 4 22 58
  2. 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 MS (Human mutation 1996) 3 4 22 58
  3. An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. (PMID: 7573035) Takakubo F … Dahl HH (American journal of human genetics 1995) 3 4 22 58
  4. X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. (PMID: 1293379) Dahl HH … Brown GK (Journal of inherited metabolic disease 1992) 3 4 22 58
  5. Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. (PMID: 1909401) Hansen LL … Dahl HH (Journal of inherited metabolic disease 1991) 3 4 22 58

Products for PDHA1 Gene

Sources for PDHA1 Gene

Content
Loading form....