Homo sapiens Protein: PDHA1
InnateDB Protein IDBP-364466.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PDHA1
Protein Name pyruvate dehydrogenase (lipoamide) alpha 1
Synonyms PDHA; PDHCE1A; PHE1A;
Species Homo sapiens
Ensembl Protein ENSP00000394382
InnateDB Gene IDBG-49600 (PDHA1)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:19081061, ECO:0000269PubMed:7782287}.
Subcellular Localization Mitochondrion matrix.
Disease Associations 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:0000269PubMed:1293379, ECO:0000269PubMed:1338114, ECO:0000269PubMed:1551669, ECO:0000269PubMed:1909401, ECO:0000269PubMed:7545958, ECO:0000269PubMed:7573035, ECO:0000269PubMed:7757088, ECO:0000269PubMed:7887409, ECO:0000269PubMed:7967473, ECO:0000269PubMed:8032855, ECO:0000269PubMed:8504306, ECO:0000269PubMed:8664900, ECO:0000269PubMed:8844217, ECO:0000269PubMed:9671272}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leigh syndrome, X-linked (X-LS) [MIM:308930]: A X-linked form of Leigh syndrome, an early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved and include psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous.
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
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
Protein Structure and Domains
InterPro IPR001017 Dehydrogenase, E1 component
IPR017597 Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y
IPR029061 Thiamin diphosphate-binding fold
PFAM PF00676
Post-translational Modifications
SwissProt P08559
PhosphoSite PhosphoSite-P08559
UniProt Splice Variant
Entrez Gene 5160
UniGene Hs.530331
RefSeq NP_000275
OMIM 300502
HPRD 02420
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