PDHA1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PDHA1 |
| Official Name | pyruvate dehydrogenase E1 subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:8806] |
| Ensembl ID | ENSG00000131828 |
| Bio databases IDs | |
| Aliases | pyruvate dehydrogenase E1 subunit alpha 1, pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial |
| Synonyms | E1alpha, E1 alpha PDH, E1 α PDH, ODPA, PDHA, PDHAD, PDHCE1A, PDHE1a, PDHE1alpha, PDHE1α, PHE1A, Pyruvate dehydrogenase-alpha, Pyruvate dehydrogenase e1 alpha, Pyruvate dehydrogenase e1 alpha1, Pyruvate dehydrogenase E1 alpha form 1 subunit, pyruvate dehydrogenase E1 subunit alpha 1, pyruvate dehydrogenase E1 subunit α 1, Pyruvate dehydrogenase e1 α, pyruvate dehydrogenase E1 α 1, Pyruvate dehydrogenase E1 α form 1 subunit, Pyruvate dehydrogenase-α |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PDHA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TPP_enzymes
- Dehydrogenase E1 component
- enzyme
- protein binding
- pyruvate dehydrogenase (lipoamide)
- pyruvate dehydrogenase E1 component, alpha subunit
- aldehyde or oxo group:NAD or NADP oxidoreductase
- pyruvate dehydrogenase
- phosphorylation site
Pathways
Biological processes and signaling networks where the PDHA1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- neoplasia
- metastasis
- pyruvate dehydrogenase e1-alpha deficiency
- Leigh syndrome
- Alzheimer disease
- breast cancer
- organismal death
- sudden infant death syndrome
- acute myeloid leukemia
role in cell
- expression in
- apoptosis
- proliferation
- cell viability
- production in
- sphere formation
- colony formation
- degradation by
- activity
- glycolysis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- cellular membrane
- Mitochondria
- mitochondrial matrix
- mitochondrial intermembrane space
- mitochondrial outer membrane
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDHA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acetyl-CoA biosynthetic process from pyruvate
- tricarboxylic acid cycle
- glucose metabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- pyruvate dehydrogenase complex
- mitochondrial matrix
- mitochondrion
- nucleolus
Molecular Function
What the gene product does at the molecular level
- protein binding
- pyruvate dehydrogenase (acetyl-transferring) activity
- pyruvate dehydrogenase (NAD+) activity