InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDHA1

Summary

InnateDB Protein

IDBP-49606.7

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

ENSP00000369134

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.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001017 Dehydrogenase, E1 component
IPR017597 Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y
IPR029061 Thiamin diphosphate-binding fold

PFAM

PF00676

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P08559

PhosphoSite