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MGP004840

UniProt Annotations

Entry Information
Gene Name3-hydroxyisobutyryl-CoA hydrolase
Protein EntryHIBCH_HUMAN
UniProt IDQ6NVY1
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NVY1-1; Sequence=Displayed; Name=2; IsoId=Q6NVY1-2; Sequence=VSP_024780; Note=No experimental confirmation available.;
Catalytic Activity3-hydroxy-2-methylpropanoyl-CoA + H(2)O = CoA + 3-hydroxy-2-methylpropanoate. {ECO:0000269|PubMed:8824301}.
DiseaseHIBCH deficiency (HIBCHD) [MIM:250620]: The enzyme defect results in accumulation of methacrylyl-CoA, a highly reactive compound, which readily undergoes addition reactions with free sulfhydryl groups. Affected individuals showed delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during first stages of life. {ECO:0000269|PubMed:17160907}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA. {ECO:0000269|PubMed:8824301}.
PathwayAmino-acid degradation; L-valine degradation.
Sequence CautionSequence=AAC52114.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH05190.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAY24178.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96699.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96743.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the enoyl-CoA hydratase/isomerase family. {ECO:0000305}.
Subcellular LocationMitochondrion {ECO:0000250}.
Tissue SpecificityHighly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung. {ECO:0000269|PubMed:8824301}.
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