Version 5.4
Homo sapiens Protein: HIBCH
Summary
InnateDB Protein IDBP-77488.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HIBCH
Protein Name 3-hydroxyisobutyryl-CoA hydrolase
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000352706
InnateDB Gene IDBG-77486 (HIBCH)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:8824301}.
Subcellular Localization Mitochondrion {ECO:0000250}.
Disease Associations HIBCH 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:0000269PubMed:17160907}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung. {ECO:0000269PubMed:8824301}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0003860 3-hydroxyisobutyryl-CoA hydrolase activity
Biological Process
GO:0006574 valine catabolic process
GO:0008152 metabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001753 Crotonase superfamily
IPR029045 ClpP/crotonase-like domain
PFAM PF00378
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6NVY1
PhosphoSite PhosphoSite-Q6NVY1
TrEMBL B9A058
UniProt Splice Variant
Entrez Gene 26275
UniGene Hs.656685
RefSeq NP_055177
HUGO HGNC:4908
OMIM 610690
CCDS CCDS2304
HPRD 11023
IMGT
EMBL AC010679 AC092178 AK222979 AK223023 BC005190 BC067822 CH471058 U66669
GenPept AAC52114 AAH05190 AAH67822 AAX93234 AAY24178 BAD96699 BAD96743 EAX10873 EAX10875

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca