Gene
dlat
- ID
- ZDB-GENE-030131-2921
- Name
- dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
- Symbol
- dlat Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Contributes to pyruvate dehydrogenase activity. Involved in acetyl-CoA biosynthetic process from pyruvate and detection of light stimulus involved in visual perception. Predicted to localize to mitochondrial matrix and pyruvate dehydrogenase complex. Used to study lactic acidosis and pyruvate decarboxylase deficiency. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Is expressed in several structures, including adaxial cell; ectoderm; head; immature eye; and pronephric duct. Orthologous to human DLAT (dihydrolipoamide S-acetyltransferase).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from Baxendale et al., 2009
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
pyruvate decarboxylase deficiency | Alliance | Pyruvate dehydrogenase E2 deficiency | 245348 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Binding_site | IPR003016 | 2-oxo acid dehydrogenase, lipoyl-binding site |
Domain | IPR000089 | Biotin/lipoyl attachment |
Domain | IPR001078 | 2-oxoacid dehydrogenase acyltransferase, catalytic domain |
Domain | IPR004167 | Peripheral subunit-binding domain |
Family | IPR006257 | Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex |
Family | IPR045257 | Dihydrolipoamide acetyltransferase/Pyruvate dehydrogenase protein X component |
Homologous_superfamily | IPR011053 | Single hybrid motif |
Homologous_superfamily | IPR023213 | Chloramphenicol acetyltransferase-like domain superfamily |
Homologous_superfamily | IPR036625 | E3-binding domain superfamily |
Domain Details Per Protein
Protein | Length | 2-oxoacid dehydrogenase acyltransferase, catalytic domain | 2-oxo acid dehydrogenase, lipoyl-binding site | Biotin/lipoyl attachment | Chloramphenicol acetyltransferase-like domain superfamily | Dihydrolipoamide acetyltransferase/Pyruvate dehydrogenase protein X component | Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex | E3-binding domain superfamily | Peripheral subunit-binding domain | Single hybrid motif |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:F6NRK1
|
652 | |||||||||
UniProtKB:Q804C3
|
652 |
Interactions and Pathways
No data available
Plasmids
No data available