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 |