| URN | urn:agi-llid:1738 |
|---|---|
| Connectivity | 46 |
| Name | Dld |
| Description | dihydrolipoamide dehydrogenase |
| Notes | This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. |
| Pathway | pyruvate metabolic pathway |
|---|---|
| pyruvate metabolic pathway |
| GO Molecular Function | electron carrier activity |
|---|---|
| oxidoreductase activity | |
| NAD or NADH binding | |
| FAD binding | |
| lipoamide binding | |
| dihydrolipoyl dehydrogenase activity |
| GO Cellular Component | flagellum |
|---|---|
| cytoplasm | |
| oxoglutarate dehydrogenase complex | |
| pyruvate dehydrogenase complex | |
| mitochondrion | |
| mitochondrial matrix | |
| acrosomal matrix |
| GO Biological Process | aging |
|---|---|
| oxidation reduction | |
| sperm capacitation | |
| gastrulation | |
| cell redox homeostasis | |
| regulation of acetyl-CoA biosynthetic process from pyruvate | |
| dihydrolipoamide metabolic process | |
| lipoate metabolic process | |
| acetyl-CoA biosynthetic process from pyruvate | |
| 2-oxoglutarate metabolic process | |
| mitochondrial electron transport, NADH to ubiquinone | |
| regulation of membrane potential | |
| proteolysis |
| Ariadne Ontology | Ser-Gly metabolism |
|---|---|
| Tricarboxylic acid cycle | |
| Glucose metabolism |
| Group | Ser-Gly metabolism |
|---|---|
| Tricarboxylic acid cycle | |
| Glucose metabolism | |
| electron carrier activity | |
| aging | |
| oxidation reduction | |
| sperm capacitation | |
| gastrulation | |
| cell redox homeostasis | |
| regulation of acetyl-CoA biosynthetic process from pyruvate | |
| dihydrolipoamide metabolic process | |
| lipoate metabolic process | |
| acetyl-CoA biosynthetic process from pyruvate | |
| 2-oxoglutarate metabolic process | |
| mitochondrial electron transport, NADH to ubiquinone | |
| regulation of membrane potential | |
| proteolysis | |
| oxidoreductase activity | |
| NAD or NADH binding | |
| FAD binding | |
| lipoamide binding | |
| dihydrolipoyl dehydrogenase activity | |
| flagellum | |
| cytoplasm | |
| oxoglutarate dehydrogenase complex | |
| pyruvate dehydrogenase complex | |
| mitochondrion | |
| mitochondrial matrix | |
| acrosomal matrix |
| MedScan ID | 1738 |
|---|
| Hugo ID | 2898 |
|---|
| Human chromosome position | 7q31-q32 |
|---|
| LocusLink ID | 1738 |
|---|---|
| 13382 | |
| 298942 |
| Alias | E3 |
|---|---|
| LAD | |
| DLDH | |
| GCSL | |
| PHE3 | |
| tcag7.39 | |
| dihydrolipoyl dehydrogenase, mitochondrial | |
| diaphorase | |
| OTTHUMP00000206746 | |
| OTTHUMP00000206749 | |
| lipoamide reductase | |
| lipoyl dehydrogenase | |
| lipoamide dehydrogenase | |
| glycine cleavage system L protein | |
| glycine cleavage system protein L | |
| E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex | |
| AI315664 | |
| AI746344 | |
| branched chain alpha-keto acid dehydrogenase complex subunit E3 | |
| dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) | |
| branched chain keto acid dehydrogenase complex | |
| dihydrolipoamide dehydrogenase | |
| dihydrolipoamide dehydrogenase catalytic subunit | |
| dihydrolipoamide dehydrogenase complex | |
| Dihydrolipoamide dehydrogenase, mitochondrial | |
| dihydrolipoyl dehydrogenase | |
| E3 component of pyruvate dehydrogenase | |
| E3 component of pyruvate dehydrogenase complex | |
| mitochondrial Dihydrolipoamide dehydrogenase | |
| Dihydrolipoamide dehydrogenase, mitochondrial precursor | |
| mitochondrial Dihydrolipoamide dehydrogenase precursor | |
| DLD | |
| branched chain keto acid dehydrogenase complex) |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 238331 |
|---|---|
| 256000 | |
| 248600 |
| Mouse chromosome position | 12 15.1 cM |
|---|
| GO ID | 0050660 |
|---|---|
| 0051287 | |
| 0004148 | |
| 0009055 | |
| 0043544 | |
| 0016491 | |
| 0006103 | |
| 0007568 | |
| 0045454 | |
| 0051068 | |
| 0007369 | |
| 0009106 | |
| 0006120 | |
| 0055114 | |
| 0006508 | |
| 0010510 | |
| 0042391 | |
| 0048240 | |
| 0043159 | |
| 0005737 | |
| 0019861 | |
| 0005759 | |
| 0005739 | |
| 0045252 | |
| 0045254 | |
| 0006086 | |
| 0006091 |
| Rat chromosome position | 6q16 |
|---|
| Swiss-Prot Accession | P09622 |
|---|---|
| O08749 | |
| Q3TIE8 | |
| Q6P6R2 | |
| Q3TG55 | |
| Q3U5W5 | |
| Q3UWP7 | |
| Q99LD3 | |
| B2R5X0 | |
| Q14131 | |
| Q14167 | |
| Q59EV8 | |
| Q8WTS4 |
| PIR ID | A92622 |
|---|
| Unigene ID | Hs.131711 |
|---|---|
| Mm.3131 | |
| Rn.86962 | |
| Mm.471230 |
| KEGG ID | hsa:1738 |
|---|---|
| mmu:13382 | |
| rno:298942 |
| EC Number | 1.8.1.4 |
|---|
| Swiss-Prot ID | DLDH_MOUSE |
|---|---|
| DLDH_RAT | |
| DLDH_HUMAN | |
| B2R5X0_HUMAN |
| Cell Localization | Mitochondrion matrix |
|---|---|
| Cytoplasm | |
| Mitochondria |
| IPI ID | IPI00874456 |
|---|---|
| IPI00365545 | |
| IPI00015911 | |
| IPI00331564 | |
| IPI00780824 |
| Homologene ID | 84 |
|---|
| RGD ID | 735073 |
|---|
| MGI ID | 107450 |
|---|