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ASS1
Anti-ASS1 Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
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 this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Proximal tubular cells, Hepatocytes, Proximal enterocytes, Urothelial cells, Distal enterocytes)
Immune cell specificity
Immune cell enriched (plasmacytoid DC)
Cell line specificity
Cell line enhanced (BJ hTERT+, HaCaT, hTCEpi, RPMI-8226, THP-1)
Interaction
Homotetramer (PubMed:18323623). Interacts with NMRAL1 (PubMed:17496144). Interacts with CLOCK; in a circadian manner (PubMed:28985504). Forms tissue-specific complexes with ASL, SLC7A1, HSP90AA1 and nitric oxide synthase NOS1, NOS2 or NOS3; the complex regulates cell-autonomous L-arginine synthesis and citrulline recycling while channeling extracellular L-arginine to nitric oxide synthesis pathway.
Molecular function
Ligase
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