Homo sapiens Gene: PDHA1
Summary
InnateDB Gene IDBG-49600.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PDHA1
Gene Name pyruvate dehydrogenase (lipoamide) alpha 1
Synonyms PDHA; PDHCE1A; PHE1A;
Species Homo sapiens
Ensembl Gene ENSG00000131828
Encoded Proteins
pyruvate dehydrogenase (lipoamide) alpha 1
pyruvate dehydrogenase (lipoamide) alpha 1
pyruvate dehydrogenase (lipoamide) alpha 1
pyruvate dehydrogenase (lipoamide) alpha 1
pyruvate dehydrogenase (lipoamide) alpha 1
pyruvate dehydrogenase (lipoamide) alpha 1
pyruvate dehydrogenase (lipoamide) alpha 1
pyruvate dehydrogenase (lipoamide) alpha 1
pyruvate dehydrogenase (lipoamide) alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:19343893-19361705
Strand Forward strand
Band p22.12
Transcripts
ENST00000355808 ENSP00000348062
ENST00000379806 ENSP00000369134
ENST00000379805 ENSP00000369133
ENST00000379804 ENSP00000369132
ENST00000422285 ENSP00000394382
ENST00000423505 ENSP00000406473
ENST00000417819 ENSP00000404616
ENST00000492364
ENST00000479146
ENST00000481733
ENST00000478795
ENST00000545074 ENSP00000438550
ENST00000540249 ENSP00000440761
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
Experimentally validated
Total 36 [view]
Protein-Protein 36 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004738 pyruvate dehydrogenase activity
GO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
Biological Process
GO:0006006 glucose metabolic process
GO:0006086 acetyl-CoA biosynthetic process from pyruvate
GO:0006090 pyruvate metabolic process
GO:0006096 glycolytic process
GO:0006099 tricarboxylic acid cycle
GO:0008152 metabolic process
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0043231 intracellular membrane-bounded organelle
GO:0045254 pyruvate dehydrogenase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
Pyruvate metabolism pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
Regulation of pyruvate dehydrogenase (PDH) complex pathway
KEGG
Glycolysis / Gluconeogenesis pathway
Citrate cycle (TCA cycle) pathway
Pyruvate metabolism pathway
INOH
Pyruvate metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL Q5JPU2
UniProt Splice Variant
Entrez Gene 5160
UniGene Hs.530331
RefSeq NM_000284 NM_001173455 NM_001173454 NM_001173456 XM_006724495
HUGO HGNC:8806
OMIM 300502
CCDS CCDS14192 CCDS55381 CCDS55380 CCDS55382
HPRD 02420
IMGT
EMBL AL732326
GenPept
RNA Seq Atlas 5160