Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.3.8.1
Oxidoreductases;
Acting on the CH-CH group of donors;
With a flavin as acceptor;
short-chain acyl-CoA dehydrogenase
1.3.8.4
Oxidoreductases;
Acting on the CH-CH group of donors;
With a flavin as acceptor;
isovaleryl-CoA dehydrogenase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1IVH | 2.6 | STRUCTURE OF HUMAN ISOVALERYL-COA DEHYDROGENASE AT 2.6 ANGSTROMS RESOLUTION: STRUCTURAL BASIS FOR SUBSTRATE SPECIFICITY |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0009083 | branched-chain amino acid catabolic process |
| Biological Process | GO:0033539 | fatty acid beta-oxidation using acyl-CoA dehydrogenase |
| Biological Process | GO:0006552 | leucine catabolic process |
| Molecular Function | GO:0004085 | butyryl-CoA dehydrogenase activity |
| Molecular Function | GO:0050660 | flavin adenine dinucleotide binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0008470 | isovaleryl-CoA dehydrogenase activity |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005654 | nucleoplasm |
| InterPro
|
InterPro name |
|---|---|
| IPR006089 | Acyl-CoA dehydrogenase, conserved site |
| IPR006091 | Acyl-CoA oxidase/dehydrogenase, middle domain |
| IPR009075 | Acyl-CoA dehydrogenase/oxidase C-terminal |
| IPR009100 | Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain superfamily |
| IPR013786 | Acyl-CoA dehydrogenase/oxidase, N-terminal |
| IPR034183 | Isovaleryl-CoA dehydrogenase |
| IPR036250 | Acyl-CoA dehydrogenase-like, C-terminal |
| IPR037069 | Acyl-CoA dehydrogenase/oxidase, N-terminal domain superfamily |
| IPR046373 | Acyl-CoA oxidase/dehydrogenase, middle domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00441 | Acyl-CoA dehydrogenase, C-terminal domain |
| PF02770 | Acyl-CoA dehydrogenase, middle domain |
| PF02771 | Acyl-CoA dehydrogenase, N-terminal domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-70895 | Branched-chain amino acid catabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion matrix | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001250 | Seizure |
| HP:0001254 | Lethargy |
| HP:0001259 | Coma |
| HP:0001263 | Global developmental delay |
| HP:0001873 | Thrombocytopenia |
| HP:0001876 | Pancytopenia |
| HP:0001882 | Leukopenia |
| HP:0001942 | Metabolic acidosis |
| HP:0001944 | Dehydration |
| HP:0001993 | Ketoacidosis |
| HP:0002013 | Vomiting |
| HP:0003108 | Hyperglycinuria |
| HP:0005528 | Bone marrow hypocellularity |
| HP:0011695 | Cerebellar hemorrhage |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| isovaleric acidemia | MONDO:0009475 | E71 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:243500 | Orphanet:33 |