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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
dihydrolipoamide S-acetyltransferase
Summary
- Gene Symbol
-
- DLAT
- Aliases
-
- E2
- E2 component of pyruvate dehydrogenase complex
- PDC-E2
- dihydrolipoyllysine-residue acetyltransferase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Acyltransferase
- Glucose metabolism
- Lipoyl
- Mitochondrion
- Phosphoprotein
- Pyruvate
- Reference proteome
- Repeat
- Transit peptide
- Tricarboxylic acid cycle
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| glucose metabolic process | ||
| acetyl-CoA biosynthetic process from pyruvate | ||
| tricarboxylic acid cycle |
GO Hierarchy
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
organonitrogen compound metabolic process [inference]
biosynthetic process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
aromatic compound biosynthetic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
cellular biosynthetic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
heterocycle biosynthetic process [inference]
primary metabolic process [inference]
small molecule metabolic process [inference]
organic substance metabolic process [inference]
organophosphate metabolic process [inference]
organic cyclic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
purine-containing compound metabolic process [inference]
organonitrogen compound metabolic process [inference]
organic substance biosynthetic process [inference]
cellular process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
aromatic compound biosynthetic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
cellular biosynthetic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
heterocycle biosynthetic process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| intracellular membrane-bounded organelle | ||
| mitochondrial pyruvate dehydrogenase complex |
|
|
| pyruvate dehydrogenase complex | ||
| mitochondrial matrix | ||
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| dihydrolipoyllysine-residue acetyltransferase activity | ||
| pyruvate dehydrogenase (NAD+) activity | ||
| protein binding | ||
| identical protein binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050167 | autoimmune polyendocrine syndrome type 1 | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0060216 | Cogan syndrome | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| DOID:0060262 | gallbladder disease | |
| DOID:0060643 | primary sclerosing cholangitis | |
| DOID:0110741 | type 1 diabetes mellitus 2 | |
| DOID:0110742 | type 1 diabetes mellitus 3 | |
| DOID:0110743 | type 1 diabetes mellitus 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000486 | Strabismus |
| HP:0000496 | Abnormality of eye movement |
| HP:0000508 | Ptosis |
| HP:0000546 | Retinal degeneration |
| HP:0000639 | Nystagmus |
| HP:0000657 | Oculomotor apraxia |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000708 | Atypical behavior |
| Disease ID | Disease Name |
|---|---|
| ORPHA:79244 |
|
| OMIM:245348 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002413
- Gene Name
- dihydrolipoamide S-acetyltransferase
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 103268023 | CARSF10035 | ||
| 115616296 | STRHB18256 |
