InnateDB Protein
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IDBP-77488.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HIBCH
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Protein Name
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3-hydroxyisobutyryl-CoA hydrolase
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000352706
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InnateDB Gene
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IDBG-77486 (HIBCH)
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Protein Structure
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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}.
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Subcellular Localization |
Mitochondrion {ECO:0000250}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0003824
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catalytic activity
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GO:0003860
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3-hydroxyisobutyryl-CoA hydrolase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001753
Crotonase superfamily
IPR029045
ClpP/crotonase-like domain
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PFAM |
PF00378
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q6NVY1
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PhosphoSite |
PhosphoSite-Q6NVY1
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TrEMBL |
B9A058
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UniProt Splice Variant |
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Entrez Gene |
26275
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UniGene |
Hs.656685
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RefSeq |
NP_055177
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HUGO |
HGNC:4908
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OMIM |
610690
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CCDS |
CCDS2304
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HPRD |
11023
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IMGT |
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EMBL |
AC010679
AC092178
AK222979
AK223023
BC005190
BC067822
CH471058
U66669
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GenPept |
AAC52114
AAH05190
AAH67822
AAX93234
AAY24178
BAD96699
BAD96743
EAX10873
EAX10875
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