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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 |
|---|---|---|
| pyruvate dehydrogenase complex | ||
| mitochondrial matrix | ||
| mitochondrion |
| 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:0111051 | platelet-type bleeding disorder 18 | |
| DOID:0111414 | trichohepatoenteric syndrome | |
| DOID:0111415 | trichohepatoenteric syndrome 1 | |
| DOID:10283 | prostate cancer | |
| DOID:10286 | prostate carcinoma | |
| DOID:1037 | lymphoid leukemia | |
| DOID:10534 | stomach cancer | |
| DOID:1059 | intellectual disability | |
| DOID:10652 | Alzheimer's disease | |
| DOID:10783 | methemoglobinemia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003593 | Infantile onset |
| HP:0003819 | Death in childhood |
| HP:0007663 | Reduced visual acuity |
| HP:0008344 | Elevated circulating branched chain amino acid concentration |
| HP:0010913 | Hyperisoleucinemia |
| HP:0011968 | Feeding difficulties |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration |
| HP:0012758 | Neurodevelopmental delay |
| HP:0100724 | Hypercoagulability |
| 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 |
|---|---|---|---|
| 178387 | WB:WBGene00010794 | ||
| 103189342 | CALMI41238 | ||
| 399479 | ZFIN:ZDB-GENE-040120-4 | DANRE27563 | |
| 103031703 | ASTMX05167 | ||
| 108275299 | ICTPU06338 | ||
| 113584051 | ELEEL33661 | ||
| 115192726 | SALTR30407 | ||
| 115197019 | SALTR12222 | ||
| 115550926 | GADMO62139 | ||
| 100705559 | ORENI66705 |
