Argininosuccinate synthetase 1

ASS1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2NZ2
Identifiers
Aliases	ASS1, ASS, CTLN1, Argininosuccinate synthetase 1, argininosuccinate synthase 1
External IDs	MGI: 88090 HomoloGene: 6899 GeneCards: ASS1
Gene location (Human) Chr. Chromosome 9 (human) Band 9q34.11 Start 130,444,929 bp End 130,501,274 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 B|2 21.81 cM Start 31,470,207 bp End 31,520,672 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • nucleotide binding • amino acid binding • ligase activity • protein binding • identical protein binding • ATP binding • argininosuccinate synthase activity • RNA binding Cellular component • extracellular exosome • mitochondrion • myelin sheath • cytoplasm • cytosol Biological process • aspartate metabolic process • cellular response to laminar fluid shear stress • urea cycle • positive regulation of nitric oxide biosynthetic process • negative regulation of leukocyte cell-cell adhesion • cellular amino acid biosynthetic process • citrulline metabolic process • argininosuccinate metabolic process • arginine biosynthetic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	445	11898
Ensembl	ENSG00000130707	ENSMUSG00000076441
UniProt	P00966	P16460
RefSeq (mRNA)	NM_000050 NM_054012	NM_007494
RefSeq (protein)	NP_000041 NP_446464	NP_031520
Location (UCSC)	Chr 9: 130.44 – 130.5 Mb	Chr 9: 31.47 – 31.52 Mb
PubMed search

2NZ2

445

11898

ENSG00000130707

ENSMUSG00000076441

P00966

P16460

NM_000050
NM_054012

NM_007494

NP_000041
NP_446464

NP_031520

Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene.

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. Two transcript variants encoding the same protein have been found for this gene.

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