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Description for Protein HMGCL

3-hydroxymethyl-3-methylglutaryl-CoA lyase
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 4/0)
(microparticles: 1; platelet: 5; secretome: 2)
Summary:
The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    4.1.3.4
    KEGG - Orthology:
    K01640
    KEGG - Pathway(s):
    hsa00072; hsa00280; hsa00650; hsa01100; hsa04146
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    3-hydroxy-3-methylglutaryl-CoA lyase; Hydroxymethylglutaryl-CoA lyase, mitochondrial; HL; 3-hydroxy-3-methylglutarate-Coenzyme A lyase
    Approved Symbol:
    HMGCL
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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):

  • 3-hydroxyglutaric acid(db)

    Associated Genetic Diseases:

  • HMG-CoA lyase deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02003 Entrez Gene ID: 3155 OMIM ID: 246450 Swissprot Accession: B4DUP4; P35914; Q6IBC0;