Homo sapiens Gene: HIBCH
Summary
InnateDB Gene IDBG-77486.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HIBCH
Gene Name 3-hydroxyisobutyryl-CoA hydrolase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000198130
Encoded Proteins
3-hydroxyisobutyryl-CoA hydrolase
3-hydroxyisobutyryl-CoA hydrolase
3-hydroxyisobutyryl-CoA hydrolase
3-hydroxyisobutyryl-CoA hydrolase
3-hydroxyisobutyryl-CoA hydrolase
3-hydroxyisobutyryl-CoA hydrolase
3-hydroxyisobutyryl-CoA hydrolase
3-hydroxyisobutyryl-CoA hydrolase
3-hydroxyisobutyryl-CoA hydrolase
3-hydroxyisobutyryl-CoA hydrolase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:190189735-190344193
Strand Reverse strand
Band q32.2
Transcripts
ENST00000359678 ENSP00000352706
ENST00000399855 ENSP00000398060
ENST00000392333 ENSP00000376145
ENST00000392332 ENSP00000376144
ENST00000410045 ENSP00000386274
ENST00000409820 ENSP00000387098
ENST00000409934 ENSP00000387247
ENST00000416732 ENSP00000399263
ENST00000414928 ENSP00000414820
ENST00000486981
ENST00000489147
ENST00000485992
ENST00000489269
ENST00000495792
ENST00000622246 ENSP00000481055
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Branched-chain amino acid catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
KEGG
Valine, leucine and isoleucine degradation pathway
beta-Alanine metabolism pathway
Propanoate metabolism pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.599827 Hs.655083 Hs.656685
RefSeq NM_014362 NM_198047
HUGO
OMIM
CCDS CCDS2304 CCDS46475
HPRD 11023
IMGT
EMBL
GenPept
RNA Seq Atlas