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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
dihydrolipoamide dehydrogenase
Summary
- Gene Symbol
-
- DLD
- Aliases
-
- DLDH
- E3
- E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
- OGDC-E3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Cytoplasmic vesicle
- Disease variant
- Disulfide bond
- FAD
- Flagellum
- Mitochondrion
- NAD
- Nucleotide-binding
- Nucleus
- Oxidoreductase
- Phosphoprotein
- Proteomics identification
- Redox-active center
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| E9PEX6 |
|
| A0A024R713 |
|
| P09622 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| proteolysis | ||
| gastrulation | ||
| regulation of membrane potential | ||
| mitochondrial electron transport, NADH to ubiquinone | ||
| sperm capacitation |
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 |
|---|---|---|
| nucleus | ||
| acrosomal matrix | ||
| motile cilium | ||
| acetyltransferase complex | ||
| oxoglutarate dehydrogenase complex |
| GO Term | Evidence Code | PMID |
|---|---|---|
| flavin adenine dinucleotide binding | ||
| 2-oxoisovalerate dehydrogenase (acylating) activity | ||
| dihydrolipoyl dehydrogenase activity | ||
| pyruvate dehydrogenase (NAD+) activity | ||
| 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:3526 | cerebral infarction | |
| DOID:3571 | liver cancer | |
| DOID:3594 | choriocarcinoma | |
| DOID:3649 | pyruvate decarboxylase deficiency | |
| DOID:3650 | lactic acidosis | |
| DOID:3651 | pyruvate carboxylase deficiency disease | |
| DOID:3652 | Leigh disease | |
| DOID:3663 | cutaneous mastocytosis | |
| DOID:3665 | diffuse cutaneous mastocytosis | |
| DOID:3669 | intermittent claudication |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001993 | Ketoacidosis |
| HP:0002013 | Vomiting |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0002240 | Hepatomegaly |
| HP:0002480 | Hepatic encephalopathy |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003128 | Lactic acidosis |
| HP:0003234 | Decreased circulating carnitine concentration |
| HP:0003394 | Muscle spasm |
| HP:0003542 | Increased serum pyruvate |
| Disease ID | Disease Name |
|---|---|
| ORPHA:2394 |
|
| OMIM:246900 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001594
- Gene Name
- dihydrolipoamide dehydrogenase
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100689437 | CRIGR19193 | ||
| 13382 | MGI:107450 | MOUSE08536 | |
| 298942 | RGD:735073 | RATNO35450 | |
| 101592058 | OCTDE11514 | ||
| 101699518 | HETGA15490 | ||
| 101879419 | MELUD09018 | ||
| 100561889 | ANOCA07485 | ||
| 103674705 | URSMA10040 | ||
| 114025328 | VOMUR06057 | ||
| 113891524 | BOBOX15727 |
