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UniProt functional annotation for P30084 | ||
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| UniProt code: P30084. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate. {ECO:0000269|PubMed:26251176}. |
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| Catalytic activity: | |
Reaction=a (3S)-3-hydroxyacyl-CoA = a (2E)-enoyl-CoA + H2O; Xref=Rhea:RHEA:16105, ChEBI:CHEBI:15377, ChEBI:CHEBI:57318, ChEBI:CHEBI:58856; EC=4.2.1.17; Evidence={ECO:0000269|PubMed:26251176}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:16107; Evidence={ECO:0000305|PubMed:26251176}; |
| Catalytic activity: | |
Reaction=a 4-saturated-(3S)-3-hydroxyacyl-CoA = a (3E)-enoyl-CoA + H2O; Xref=Rhea:RHEA:20724, ChEBI:CHEBI:15377, ChEBI:CHEBI:58521, ChEBI:CHEBI:137480; EC=4.2.1.17; Evidence={ECO:0000269|PubMed:26251176}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:20726; Evidence={ECO:0000305|PubMed:26251176}; |
| Catalytic activity: | |
Reaction=(3S)-3-hydroxybutanoyl-CoA = (2E)-butenoyl-CoA + H2O; Xref=Rhea:RHEA:26558, ChEBI:CHEBI:15377, ChEBI:CHEBI:57316, ChEBI:CHEBI:57332; Evidence={ECO:0000269|PubMed:26251176}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:26560; Evidence={ECO:0000305|PubMed:26251176}; |
| Catalytic activity: | |
Reaction=3-hydroxyisovaleryl-CoA = 3-methyl-(2E)-butenoyl-CoA + H2O; Xref=Rhea:RHEA:31079, ChEBI:CHEBI:15377, ChEBI:CHEBI:57344, ChEBI:CHEBI:62555; Evidence={ECO:0000269|PubMed:26251176}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:31081; Evidence={ECO:0000305|PubMed:26251176}; |
| Catalytic activity: | |
Reaction=3-hydroxypropanoyl-CoA = acryloyl-CoA + H2O; Xref=Rhea:RHEA:26518, ChEBI:CHEBI:15377, ChEBI:CHEBI:57367, ChEBI:CHEBI:58528; Evidence={ECO:0000269|PubMed:26251176}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:26520; Evidence={ECO:0000305|PubMed:26251176}; |
| Catalytic activity: | |
Reaction=3-hydroxybutanoyl-CoA = (2E)-butenoyl-CoA + H2O; Xref=Rhea:RHEA:45584, ChEBI:CHEBI:15377, ChEBI:CHEBI:57332, ChEBI:CHEBI:78611; Evidence={ECO:0000269|PubMed:26251176}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:45586; Evidence={ECO:0000305|PubMed:26251176}; |
| Biophysicochemical properties: | |
Kinetic parameters: KM=12.75 uM for crotonyl-CoA {ECO:0000269|PubMed:26251176}; KM=34.04 uM for acryloyl-CoA {ECO:0000269|PubMed:26251176}; KM=45.83 uM for 3-Methylcrotonyl-CoA {ECO:0000269|PubMed:26251176}; KM=57.87 uM for tiglyl-CoA {ECO:0000269|PubMed:26251176}; Vmax=54.64 umol/min/mg enzyme toward crotonyl-CoA {ECO:0000269|PubMed:26251176}; Vmax=42.92 umol/min/mg enzyme toward acryloyl-CoA {ECO:0000269|PubMed:26251176}; Vmax=49.02 umol/min/mg enzyme toward 3-Methylcrotonyl-CoA {ECO:0000269|PubMed:26251176}; Vmax=6.66 umol/min/mg enzyme toward tiglyl-CoA {ECO:0000269|PubMed:26251176}; |
| Pathway: | |
Lipid metabolism; fatty acid beta-oxidation. {ECO:0000269|PubMed:26251176}. |
| Subunit: | |
Homohexamer; dimer of trimers. {ECO:0000269|Ref.15}. |
| Subcellular location: | |
Mitochondrion matrix. |
| Tissue specificity: | |
Liver, fibroblast, muscle. Barely detectable in spleen and kidney. |
| Disease: | |
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]: A severe, autosomal recessive inborn error affecting valine metabolism. Disease features include brain lesions in the basal ganglia, neurodegeneration, delayed psychomotor development, hypotonia, spasticity, and increased lactic acid in serum and cerebral serum fluid. {ECO:0000269|PubMed:25125611, ECO:0000269|PubMed:25393721, ECO:0000269|PubMed:26000322, ECO:0000269|PubMed:26251176, ECO:0000269|PubMed:26741492, ECO:0000269|PubMed:27221955}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the enoyl-CoA hydratase/isomerase family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.