Argininosuccinate synthetase 1

Argininosuccinate synthetase 1
PDB rendering based on 2nz2.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2nz2​
Identifiers
Symbols	ASS1 ; ASS; CTLN1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 6899
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Argininosuccinate synthetase 1, also known as ASS1, is a human 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. Mutations in the chromosome 9 copy of ASS cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene.

Further reading

• Beaudet AL, O'Brien WE, Bock HG; et al. (1986). "The human argininosuccinate synthetase locus and citrullinemia". Adv. Hum. Genet. 15: 161–96, 291–2. PMID 3513483.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ikeda S (2001). "[Recent advances of the treatment in metabolic disorders]". Rinsho Shinkeigaku. 40 (12): 1264–6. PMID 11464474.
• Carritt B, Goldfarb PS, Hooper ML, Slack C (1977). "Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamsterxhuman somatic cell hybrids". Exp. Cell Res. 106 (1): 71–8. PMID 852520.CS1 maint: Multiple names: authors list (link)
• Carritt B (1977). "Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9". Cytogenet. Cell Genet. 19 (1): 44–8. PMID 891260.
• Dhanakoti SN, Brosnan ME, Herzberg GR, Brosnan JT (1992). "Cellular and subcellular localization of enzymes of arginine metabolism in rat kidney". Biochem. J. 282 ( Pt 2): 369–75. PMID 1312326.CS1 maint: Multiple names: authors list (link)
• Wakui H, Komatsuda A, Itoh H; et al. (1992). "Renal argininosuccinate synthetase: purification, immunohistochemical localization, and elastin-binding property". Ren. Physiol. Biochem. 15 (1): 1–9. PMID 1372742.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kobayashi K, Rosenbloom C, Beaudet AL, O'Brien WE (1991). "Additional mutations in argininosuccinate synthetase causing citrullinemia". Mol. Biol. Med. 8 (1): 95–100. PMID 1943692.CS1 maint: Multiple names: authors list (link)
• Kobayashi K, Jackson MJ, Tick DB; et al. (1990). "Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia". J. Biol. Chem. 265 (19): 11361–7. PMID 2358466.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Isashiki Y, Noda T, Kobayashi K; et al. (1989). "Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase". Protein Seq. Data Anal. 2 (4): 283–7. PMID 2788888.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jinno Y, Nomiyama H, Matuo S; et al. (1987). "Structure of the 5' end region of the human argininosuccinate synthetase gene". J. Inherit. Metab. Dis. 8 (3): 157–9. PMID 3027451.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Freytag SO, Beaudet AL, Bock HG, O'Brien WE (1985). "Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing". Mol. Cell. Biol. 4 (10): 1978–84. PMID 6095035.CS1 maint: Multiple names: authors list (link)
• Bock HG, Su TS, O'Brien WE, Beaudet AL (1983). "Sequence for human argininosuccinate synthetase cDNA". Nucleic Acids Res. 11 (18): 6505–12. PMID 6194510.CS1 maint: Multiple names: authors list (link)
• Freytag SO, Bock HG, Beaudet AL, O'Brien WE (1984). "Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications". J. Biol. Chem. 259 (5): 3160–6. PMID 6321498.CS1 maint: Multiple names: authors list (link)
• Kobayashi K, Kakinoki H, Fukushige T; et al. (1995). "Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia". Hum. Genet. 96 (4): 454–63. PMID 7557970.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kobayashi K, Shaheen N, Terazono H, Saheki T (1994). "Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia". Am. J. Hum. Genet. 55 (6): 1103–12. PMID 7977368.CS1 maint: Multiple names: authors list (link)
• Shaheen N, Kobayashi K, Terazono H; et al. (1996). "Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells". Enzyme Protein. 48 (5–6): 251–64. PMID 8792870.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gress TM, Müller-Pillasch F, Geng M; et al. (1996). "A pancreatic cancer-specific expression profile". Oncogene. 13 (8): 1819–30. PMID 8895530.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ji H, Reid GE, Moritz RL; et al. (1997). "A two-dimensional gel database of human colon carcinoma proteins". Electrophoresis. 18 (3–4): 605–13. doi:10.1002/elps.1150180344. PMID 9150948.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)