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Description for Protein ASL

argininosuccinate lyase
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/0)
(microparticles: 1; platelet: 1; secretome: 3)
Summary:
This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
4.3.2.1
KEGG - Orthology:
K01755
KEGG - Pathway(s):
hsa00250; hsa00330; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
ASAL; Arginosuccinase; Arginine succinate lyase; EC 4.3.2.1; Argininosuccinate lyase isoform 1; Argininosuccinate lyase isoform 2; Argininosuccinate lyase isoform 3
Approved Symbol:
ASL
(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):

  • 2-(N-Morpholino)-Ethanesulfonic Acid(db);
  • Argininosuccinate(db);
  • L-Arginine(db)

    Associated Genetic Diseases:

  • Argininosuccinic aciduria(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01948 Entrez Gene ID: 435 OMIM ID: 608310 Swissprot Accession: P04424;