PDHA1 Gene (Protein Coding)

Pyruvate Dehydrogenase E1 Subunit Alpha 1

GC0XP019343
GIFtS:
48
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), dihydrolipoam... See more...

Aliases for PDHA1 Gene

Aliases for PDHA1 Gene

  • Pyruvate Dehydrogenase E1 Subunit Alpha 1 2 3 5
  • Pyruvate Dehydrogenase E1 Component Subunit Alpha, Somatic Form, Mitochondrial 2 3 4
  • Pyruvate Dehydrogenase (Lipoamide) Alpha 1 2 3
  • Pyruvate Dehydrogenase Alpha 1 2 3
  • PDHE1-A Type I 3 4
  • EC 1.2.4.1 4 51
  • PHE1A 3 4
  • Pyruvate Dehydrogenase Complex, E1-Alpha Polypeptide 1 3
  • Pyruvate Dehydrogenase E1 Alpha 1 Subunit 3
  • Pyruvate Dehydrogenase E1 Subunit 3
  • PDHCE1A 3
  • PDHAD 3
  • PDHA1 5
  • 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
  • GC0XP019271
  • 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 Subunit Alpha 1) 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 Glucose metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. 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 Summary 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 , Rfam classification and piRNA Summary for PDHA1 Gene

Genomics for PDHA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 606.9 +0.4 408 3.4 SP1 CREB1 ZNF629 SOX13 ZNF692 POLR2A ZNF7 MTA2 RBFOX2 MTA1 PDHA1 HE855935 RF00017-8200 PHKA2 PHKA2-AS1 MAP3K15
GH0XJ019343 Enhancer 0.4 ENCODE 600.7 -1.4 -1395 0.2 ZBTB17 NFIC NFIA PDHA1 PHKA2 PHKA2-AS1 piR-48821-013 ADGRG2
GH0XJ019334 Enhancer 1 Ensembl ENCODE 5.8 -9.2 -9177 1.5 CEBPG CREB1 CTCF TEAD4 REST RAD21 TRIM22 ZNF37A CEBPA ATF7 BCLAF3 PDHA1 piR-48821-013 ADGRG2
GH0XJ019350 Enhancer 0.8 Ensembl ENCODE 5.4 +7.1 7108 2.8 IKZF2 EED RUNX3 ZNF316 MAFG IKZF1 MAFK SPI1 ATF2 ATF7 PDHA1 HE855935 RF00017-8201 MAP3K15
GH0XJ019357 Enhancer 0.5 Ensembl ENCODE 5.4 +14.9 14865 1.9 CEBPB USF2 PDHA1 BCLAF3 RF00017-8201 HE855935 MAP3K15
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDHA1

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

Genomic Locations for PDHA1 Gene

Genomic Locations for PDHA1 Gene
chrX:19,343,893-19,361,718
(GRCh38/hg38)
Size:
17,826 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 Structure • Gene Density

RefSeq DNA sequence for PDHA1 Gene

Proteins for PDHA1 Gene

Products:

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  • 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAB59581.1; Type=Frameshift; 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

Protein Expression for PDHA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PDHA1 Gene

P08559:
  • FICENNRYGMGT
  • GLKYYRMM
  • FAAAYCRSGKGP
  • RLEEGPP
  • DGQEACC
  • SYRTREEIQEVR
  • QKPASRVLVASR
  • GDGAANQGQ
  • PPFEVRGA
  • VRSKSDPIMLL
  • ILAELTGR
  • LCVREAT
  • IRGFCHL
  • NMAALWKLP
  • GIVGAQVP
  • GGCAKGKGGS
  • GHSMSDP
  • KGKGGSMH
  • ITAYRAHGFT
  • RRMELKADQLYKQK
  • NDATFEIKKCDL
  • LEEGPPVTTVLTR

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

Other Protein References for PDHA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for PDHA1 Gene

InterPro:
Blocks:
  • Dehydrogenase, E1 component
ProtoNet:

Suggested Antigen Peptide Sequences for PDHA1 Gene

GenScript: Design optimal peptide antigens:
  • PDHA1 (A5YPB6_HUMAN)
  • cDNA FLJ59461, highly similar to Pyruvate dehydrogenase E1 component alpha subunit, somatic form, mitochondrial (EC 1.2.4.1) (A5YVE9_HUMAN)
  • cDNA FLJ54787, highly similar to Pyruvate dehydrogenase E1 component alpha subunit, somatic form, mitochondrial (EC 1.2.4.1) (B7Z3T7_HUMAN)
  • cDNA FLJ52314, highly similar to Pyruvate dehydrogenase E1 component alpha subunit, somatic form, mitochondrial (EC 1.2.4.1) (B7Z3X5_HUMAN)
  • PDHE1-A type I (ODPA_HUMAN)
genes like me logo Genes that share domains with PDHA1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PDHA1 Gene

Function for PDHA1 Gene

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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:
Reaction=[dihydrolipoyllysine-residue acetyltransferase]-(R)-N(6)-lipoyl-L-lysine + H(+) + pyruvate = [dihydrolipoyllysine-residue acetyltransferase]-(R)-N(6)-(S(8)-acetyldihydrolipoyl)-L-lysine + CO2; Xref=Rhea:RHEA:19189, Rhea:RHEA-COMP:10480, Rhea:RHEA-COMP:10481, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:83099, ChEBI:CHEBI:83111; EC=1.2.4.1; Evidence={ECO:0000269|PubMed:17474719, ECO:0000269|PubMed:19081061, ECO:0000269|PubMed:7782287};.
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 IEA --
GO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity IDA 19081061
GO:0005515 protein binding IPI 7782287
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

CRISPR 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 4
cytosol 3
extracellular 2
cytoskeleton 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

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 TAS,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005967 mitochondrial pyruvate dehydrogenase complex IBA 21873635
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 activated by:
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 IBA,IDA 19081061
GO:0006090 pyruvate metabolic process TAS --
GO:0006099 tricarboxylic acid cycle IEA --
genes like me logo Genes that share ontologies with PDHA1: view

Drugs & Compounds for PDHA1 Gene

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

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

(1) ApexBio Compounds for PDHA1 Gene

Compound Action Cas Number
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
genes like me logo Genes that share compounds with PDHA1: view

Drug Products

Transcripts for PDHA1 Gene

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mRNA/cDNA for PDHA1 Gene

4 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for PDHA1 Gene

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  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for PDHA1 Gene
mRNA expression by BioGPS for PDHA1 GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(5)
  • Muscle(4.7)
  • Liver(4.6)
  • Blood(4.6)
  • Heart(3.9)
  • Lung(3.5)
  • Kidney(3.4)
  • Skin(3.2)
  • Intestine(3.2)
  • Stomach(2.4)
  • Pancreas(2.4)
  • Eye(2.4)
  • Bone marrow(2.3)
  • Thyroid gland(2.2)
  • Lymph node(2.1)
  • Spleen(2.1)

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 30 31
  • 99.23 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PDHA1 30 31
  • 90.94 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PDHA1 30 31
  • 90.34 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 90 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Pdha1 30
  • 89.32 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 89 (a)
 ManyToMany
-- 31
  • 88 (a)
 ManyToMany
Mouse
(Mus musculus)
 Mammalia Pdha1 30 17 31
  • 88.55 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves PDHA1 30 31
  • 79.57 (n)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 84 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pdha1 30
  • 74.96 (n)
Str.20256 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.18852 30
Zebrafish
(Danio rerio)
 Actinopterygii pdha1b 31
  • 77 (a)
 ManyToMany
pdha1a 30 31
  • 72.74 (n)
 ManyToMany
wufo96f03 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.12355 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004773 30
  • 60.28 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG7010 32
  • 58 (a)
l(1)G0334 31
  • 49 (a)
 ManyToMany
CG7024 31 32
  • 37 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea pdha-1 30 31
  • 60.45 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AGR103W 30
  • 58.82 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F12001g 30
  • 56.24 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PDA1 30 31
  • 55.24 (n)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons E1 ALPHA 30
  • 59.14 (n)
Rice
(Oryza sativa)
 Liliopsida Os06g0246500 30
  • 56.39 (n)
Barley
(Hordeum vulgare)
 Liliopsida Hv.7171 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 62 (a)
 OneToMany
Bread mold
(Neurospora crassa)
 Ascomycetes NCU06482 30
  • 57.04 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes pda1 30
  • 55.69 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.4060 30
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

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDHA1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
599237 Likely Pathogenic: Pyruvate dehydrogenase E1-alpha deficiency 19,350,109(+) A/AGGTGAGTGGTAGG SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
637039 Likely Pathogenic: Pyruvate dehydrogenase E1-alpha deficiency 19,355,494(+) C/T MISSENSE_VARIANT
640193 Pathogenic: Pyruvate dehydrogenase E1-alpha deficiency 19,358,949(+) A/AAGTAAGAGTGACC NONSENSE
650357 Conflicting Interpretations: Pyruvate dehydrogenase E1-alpha deficiency 19,355,437(+) C/G MISSENSE_VARIANT
655703 Uncertain Significance: Pyruvate dehydrogenase E1-alpha deficiency 19,357,659(+) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PDHA1 Gene

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

(11) MalaCards diseases for PDHA1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
leigh syndrome
  • ls
- 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

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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 23
  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 23
  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 23
  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 23

ExternalLinks

View latest publications for PDHA1 gene in Mastermind

Products for PDHA1 Gene

  • Addgene plasmids for PDHA1

Sources for PDHA1 Gene