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MIRAGE
Dihydrolipoyl dehydrogenase, mitochondrial
Summary
- UniProt ID
- P09622
- Gene Symbol
-
- DLD
- GCSL
- LAD
- PHE3
- Gene ID
- 1738
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Cytoplasmic vesicle
- Disease variant
- Disulfide bond
- FAD
- Flagellum
- Mitochondrion
- NAD
- Nucleus
- Oxidoreductase
- Phosphoprotein
- Redox-active center
- Reference proteome
- Transit peptide
- Gene Ontology (GO)
| GO Term |
|---|
| nucleus |
| mitochondrion |
| mitochondrial matrix |
| motile cilium |
| oxoglutarate dehydrogenase complex |
| pyruvate dehydrogenase complex |
| acrosomal matrix |
| acetyltransferase complex |
| GO Term |
|---|
| dihydrolipoyl dehydrogenase activity |
| flavin adenine dinucleotide binding |
Sequence
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTCLNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASFGKSINF
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 73 |
|
|||
| 183 |
|
G16503YX
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| BCKDH synthesizes BCAA-CoA from KIC, KMVA, KIV | Homo sapiens |
| Branched-chain amino acid catabolism | Homo sapiens |
| Branched-chain ketoacid dehydrogenase kinase deficiency | Homo sapiens |
| Glycine degradation | Homo sapiens |
| H139Hfs13* PPM1K causes a mild variant of MSUD | Homo sapiens |
| Loss-of-function mutations in DBT cause MSUD2 | Homo sapiens |
| Loss-of-function mutations in DLD cause MSUD3/DLDD | Homo sapiens |
| Mitochondrial protein degradation | Homo sapiens |
| OADH complex synthesizes glutaryl-CoA from 2-OA | Homo sapiens |
| PDH complex synthesizes acetyl-CoA from PYR | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:9269 | maple syrup urine disease |
