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MGP000227

UniProt Annotations

Entry Information
Gene Nameargininosuccinate synthase 1
Protein EntryASSY_HUMAN
UniProt IDP00966
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + L-citrulline + L-aspartate = AMP + diphosphate + N(omega)-(L-arginino)succinate.
DiseaseCitrullinemia 1 (CTLN1) [MIM:215700]: The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood. {ECO:0000269|PubMed:11708871, ECO:0000269|PubMed:11941481, ECO:0000269|PubMed:12815590, ECO:0000269|PubMed:14680976, ECO:0000269|PubMed:16475226, ECO:0000269|PubMed:1943692, ECO:0000269|PubMed:2358466, ECO:0000269|PubMed:7977368}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionIs indirectly involved in the control of blood pressure. {ECO:0000250}.
InteractionP10398:ARAF; NbExp=4; IntAct=EBI-536842, EBI-365961;
PathwayAmino-acid biosynthesis; L-arginine biosynthesis; L- arginine from L-ornithine and carbamoyl phosphate: step 2/3.
PathwayNitrogen metabolism; urea cycle; (N(omega)-L- arginino)succinate from L-aspartate and L-citrulline: step 1/1.
SimilarityBelongs to the argininosuccinate synthase family. Type 1 subfamily. {ECO:0000305}.
SubunitHomotetramer. Interacts with NMRAL1. {ECO:0000269|PubMed:17496144, ECO:0000269|PubMed:18323623}.
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