ID:HIBCH_HUMAN DESCRIPTION: RecName: Full=3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; EC=3.1.2.4; AltName: Full=3-hydroxyisobutyryl-coenzyme A hydrolase; Short=HIB-CoA hydrolase; Short=HIBYL-CoA-H; Flags: Precursor; FUNCTION: Hydrolyzes 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. CATALYTIC ACTIVITY: 3-hydroxy-2-methylpropanoyl-CoA + H(2)O = CoA + 3-hydroxy-2-methylpropanoate. PATHWAY: Amino-acid degradation; L-valine degradation. SUBCELLULAR LOCATION: Mitochondrion (By similarity). TISSUE SPECIFICITY: Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung. DISEASE: Defects in HIBCH are the cause of HIBCH deficiency (HIBCHD) [MIM:250620]; also known as deficiency of beta- hydroxyisobutyryl CoA deacylase or methacrylic aciduria. 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. SIMILARITY: Belongs to the enoyl-CoA hydratase/isomerase family. SEQUENCE CAUTION: Sequence=AAC52114.1; Type=Erroneous initiation; Sequence=AAH05190.2; Type=Erroneous initiation; Sequence=AAY24178.1; Type=Erroneous initiation; Sequence=BAD96699.1; Type=Erroneous initiation; Sequence=BAD96743.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6NVY1
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
