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Description for Protein HIBCH

3-hydroxyisobutyryl-CoA hydrolase
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(platelet: 9; secretome: 1)
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. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.1.2.4
KEGG - Orthology:
K05605
KEGG - Pathway(s):
hsa00280; hsa00410; hsa00640; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
HIBYL-COA-H; Beta-hydroxyisobutyryl-CoA hydrolase; 3-hydroxy-2-methylpropanoyl-CoA hydrolase; EC 3.1.2.4
Approved Symbol:
HIBCH
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Quercetin(db)

    Associated Genetic Diseases:

  • 3-@hydroxyisobutyryl-CoA hydrolase deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 11023 Entrez Gene ID: 26275 OMIM ID: 610690 Swissprot Accession: Q6NVY1;