Pdha1 Gene Summary [Mouse]
Enables pyruvate dehydrogenase (NAD+) activity. Acts upstream of or within pyruvate decarboxylation to acetyl-CoA. Located in mitochondrion. Part of catalytic complex. Is expressed in several structures, including alimentary system; brain; heart ventricle; metanephros; and sensory organ. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pdha1 |
| Official Name | pyruvate dehydrogenase E1 alpha 1 [Source:MGI Symbol;Acc:MGI:97532] |
| Ensembl ID | ENSMUSG00000031299 |
| Bio databases IDs | |
| Aliases | pyruvate dehydrogenase E1 alpha 1 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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 mouse 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