Version 5.4
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
IDBP-49604
pyruvate dehydrogenase (lipoamide) alpha 1
IDBP-49606
pyruvate dehydrogenase (lipoamide) alpha 1
IDBP-49608
pyruvate dehydrogenase (lipoamide) alpha 1
IDBP-49610
pyruvate dehydrogenase (lipoamide) alpha 1
IDBP-364466
pyruvate dehydrogenase (lipoamide) alpha 1
IDBP-364469
pyruvate dehydrogenase (lipoamide) alpha 1
IDBP-364473
pyruvate dehydrogenase (lipoamide) alpha 1
IDBP-588752
pyruvate dehydrogenase (lipoamide) alpha 1
IDBP-596607
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
ENSMUSG00000031299
View Gene Order
ENSBTAG00000019852
Not yet available
Pathways
NETPATH
REACTOME
REACT_12528
Regulation of pyruvate dehydrogenase (PDH) complex pathway
REACT_2071
Pyruvate metabolism pathway
REACT_1046
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
REACT_111083
The citric acid (TCA) cycle and respiratory electron transport pathway
REACT_111217
Metabolism pathway
KEGG
hsa00010
Glycolysis / Gluconeogenesis pathway
hsa00620
Pyruvate metabolism pathway
hsa00020
Citrate cycle (TCA cycle) pathway
INOH
INOH website
Pyruvate metabolism pathway
PID NCI
Cross-References
SwissProt P08559
TrEMBL A0A024RBX9 A5YPB6 Q5JPT9 Q5JPU0 Q5JPU1 Q5JPU2 Q5JPU3 Q6LCA3 Q9UNV7
UniProt Splice Variant
Entrez Gene 5160
UniGene Hs.530331
RefSeq NM_000284 NM_001173454 NM_001173455 NM_001173456 XM_006724495
HUGO HGNC:8806
OMIM 300502
CCDS CCDS14192 CCDS55380 CCDS55381 CCDS55382
HPRD
IMGT
EMBL AF085457 AF125053 AF125054 AF125055 AF125056 AF125057 AF125058 AF125059 AF125060 AF125061 AF125062 AF125063 AF125064 AF125065 AF125066 AF125067 AF125068 AF125069 AF125070 AF125071 AF125072 AF125073 AF125074 AF125075 AF125076 AF125078 AF125079 AF125080 AF125081 AF125082 AF125083 AF125084 AF125085 AF125086 AF125087 AF125088 AK222740 AK293250 AK296341 AK296457 AK312263 AL732326 BC002406 CH471074 D90084 EF576990 EF590117 J03503 J03575 L13318 L48690 M24848 M27257 M29155 M29156 M29157 M29158 M29159 M29160 M29161 M29162 M29163 M29164 U75933 U75934 U75935 U75936 X52709 X52710
GenPept AAA36533 AAA60050 AAA60051 AAA60055 AAA60227 AAB39723 AAB39724 AAB39725 AAB39726 AAB59581 AAD16047 AAD23841 AAD23842 AAD23843 AAD23844 AAD23845 AAD23846 AAD23847 AAD23848 AAD23849 AAD23850 AAD23851 AAD23852 AAD23853 AAD23854 AAD23855 AAD23856 AAD23857 AAD23858 AAD23859 AAD23860 AAD23861 AAD23862 AAD23863 AAD23864 AAD23866 AAD23867 AAD23868 AAD23869 AAD23870 AAD23871 AAD23872 AAD23873 AAD23874 AAD23875 AAD23876 AAH02406 ABQ58815 ABQ59099 BAA14121 BAD96460 BAG35194 BAH11476 BAH12323 BAH12361 CAA36933 CAA36934 CAI41291 EAW98960 EAW98961
RNA Seq Atlas 5160

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca