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Description for Protein ADSL

adenylosuccinate lyase
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(platelet: 5)
Summary:
Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    4.3.2.2
    KEGG - Orthology:
    K01756
    KEGG - Pathway(s):
    hsa00230; hsa00250; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Adenylosuccinase; ASASE; ASL; EC 4.3.2.2
    Approved Symbol:
    ADSL
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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):

    None Available


    Associated Genetic Diseases:

  • Adenylosuccinase deficiency(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 00049 Entrez Gene ID: 158 OMIM ID: 608222 Swissprot Accession: P30566