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Description for Protein CBS

cystathionine-beta-synthase
6 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CBS: Domain in cystathionine beta-synthase and other proteins.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    4.2.1.22
    KEGG - Orthology:
    K01697
    KEGG - Pathway(s):
    hsa00260; hsa00270; hsa00450; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Serine sulfhydrase; Beta thionase; Methylcysteine synthase; Beta CTSase; L-serine hydro-lyase; EC 4.2.1.22
    Approved Symbol:
    CBS
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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):

  • Heme(db);
  • L-Cysteine(db);
  • L-Serine(db);
  • Pyridoxal Phosphate(db);
  • Pyridoxine(db);
  • S-Adenosylmethionine(db)

    Associated Genetic Diseases:

  • Homocystinuria(Pd);
  • Homocystinuria, pyridoxine-responsive(Pd);
  • Thrombosis, hyperhomocysteinemic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01994 Entrez Gene ID: 875 OMIM ID: 236200 Swissprot Accession: P35520; Q9NTF0;