MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000045

UniProt Annotations

Entry Information

Gene Name	argininosuccinate synthase 1
Protein Entry	ASSY_HUMAN
UniProt ID	P00966
Species	Human

Comments

Comment type	Description
Catalytic Activity	ATP + L-citrulline + L-aspartate = AMP + diphosphate + N(omega)-(L-arginino)succinate.
Disease	Citrullinemia 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.
Function	Is indirectly involved in the control of blood pressure. {ECO:0000250}.
Interaction	P10398:ARAF; NbExp=4; IntAct=EBI-536842, EBI-365961;
Pathway	Amino-acid biosynthesis; L-arginine biosynthesis; L- arginine from L-ornithine and carbamoyl phosphate: step 2/3.
Pathway	Nitrogen metabolism; urea cycle; (N(omega)-L- arginino)succinate from L-aspartate and L-citrulline: step 1/1.
Similarity	Belongs to the argininosuccinate synthase family. Type 1 subfamily. {ECO:0000305}.
Subunit	Homotetramer. Interacts with NMRAL1. {ECO:0000269\|PubMed:17496144, ECO:0000269\|PubMed:18323623}.