Bckdha Gene Summary [Mouse]
Predicted to enable metal ion binding activity. Predicted to contribute to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity and branched-chain alpha-keto acid dehydrogenase activity. Predicted to be involved in branched-chain amino acid catabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Bckdha |
| Official Name | branched chain ketoacid dehydrogenase E1, alpha polypeptide [Source:MGI Symbol;Acc:MGI:107701] |
| Ensembl ID | ENSMUSG00000060376 |
| Bio databases IDs | |
| Aliases | branched chain ketoacid dehydrogenase E1, alpha polypeptide |
| Synonyms | BCKAD, BCKAD E1 alpha, BCKAD E1 α, BCKDA, BCKDE1A, Branch chain alpha-letpacod decarboxylase e1alpha, Branch chain α-letpacod decarboxylase e1alpha, Branched Chain Alpha-Ketoacid Dehydrogenase Subunit E1, branched chain ketoacid dehydrogenase E1, alpha polypeptide, branched chain keto acid dehydrogenase E1 subunit alpha, branched chain keto acid dehydrogenase E1 subunit α, branched chain ketoacid dehydrogenase E1, α polypeptide, Branched Chain α-Ketoacid Dehydrogenase Subunit E1, DecxE1a, E1a, E1[a], MSU, MSUD1, MSUD1A, OVD1A |
| 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 Bckdha 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
- binding protein
- CR1 domain
- CR2 domain
- 2-oxoisovalerate dehydrogenase (acylating)
- Dehydrogenase E1 component
- 3-methyl-2-oxobutanoate dehydrogenase (lipoamide)
- CR3 domain
- carboxy-lyase
- enzyme
- protein binding
- pyruvate dehydrogenase E1 component, alpha subunit
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- maple syrup urine disease
- maple syrup urine disease type 1A
- hepatocellular carcinoma
- liver cancer
- hereditary disorder
- male pattern hair loss
- acute graft-vs-host disease
- neoplastic cell transformation
role in cell
- expression in
- phosphorylation in
- tubulation
- transformation
- autophagy by
- sensitization
- autophagy
- fragmentation in
- tubulation in
- fragmentation
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
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bckdha gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- branched chain family amino acid catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- oxoglutarate dehydrogenase complex
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
- protein binding
- metal ion binding
- 2-oxoisovalerate dehydrogenase (acylating) activity
- carboxy-lyase activity