LMPD Database

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LMP004216

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.
DiseaseHIBCH deficiency (HIBCHD) [MIM
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.
PathwayAmino-acid degradation; L-valine degradation.
Sequence CautionSequence=AAC52114.1; Type=Erroneous initiation; Evidence= ; Sequence=AAH05190.2; Type=Erroneous initiation; Evidence= ; Sequence=AAY24178.1; Type=Erroneous initiation; Evidence= ; Sequence=BAD96699.1; Type=Erroneous initiation; Evidence= ; Sequence=BAD96743.1; Type=Erroneous initiation; Evidence= ;
SimilarityBelongs to the enoyl-CoA hydratase/isomerase family.
Subcellular LocationMitochondrion .
Tissue SpecificityHighly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung.