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Description for Protein ASS1

argininosuccinate synthase 1
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of ASS cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
6.3.4.5
KEGG - Orthology:
K01940
KEGG - Pathway(s):
hsa00250; hsa00330; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Citrulline-aspartate ligase; ASS1; CTLN1; EC 6.3.4.5
Approved Symbol:
ASS1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 10
Human (de-) phosphorylation sites: 10; 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):

  • Adenosine triphosphate(db);
  • L-Arginine(db);
  • L-Aspartic Acid(db);
  • L-Citrulline(db)

    Associated Genetic Diseases:

  • Citrullinemia, classic(Pd);
  • Citrullinemia, mild(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04590 Entrez Gene ID: 445 OMIM ID: 603470 Swissprot Accession: P00966; Q5T6L4;