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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 |
|---|---|---|
| acetyl-CoA biosynthetic process from pyruvate | ||
| branched-chain amino acid catabolic process |
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:10825 | essential hypertension | |
| DOID:10907 | microcephaly | |
| DOID:11125 | qualitative platelet defect | |
| DOID:11504 | autonomic neuropathy | |
| DOID:11561 | hypertensive retinopathy | |
| DOID:1168 | familial hyperlipidemia | |
| DOID:11832 | visual epilepsy | |
| DOID:11847 | coronary thrombosis | |
| DOID:11870 | Pick's disease | |
| DOID:11984 | hypertrophic cardiomyopathy |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000708 | Atypical behavior |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| 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 |
|---|---|---|---|
| 103226725 | CHLSB09880 | ||
| 108540480 | RHIBE21764 | ||
| 104677414 | RHIRO25835 | ||
| 100582270 | NOMLE07231 | ||
| 114605034 | PODMU33769 | ||
| 107575708 | SINGR04867 | ||
| 106825194 | EQUAS07416 | ||
| 116838649 | CHEAB14187 | ||
| 115056698 | ECHNA52517 | ||
| 115392327 | SALFA27755 |
