Argininosuccinate synthetase 1

Argininosuccinate synthase 1
PDB rendering based on 2nz2.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2NZ2​
Identifiers
Symbols	ASS1 ; ASS; CTLN1
External IDs	OMIM: 603470 MGI: 88090 HomoloGene: 6899 GeneCards: ASS1 Gene
EC number	6.3.4.5
Gene ontology Molecular function • argininosuccinate synthase activity • protein binding • ATP binding • toxic substance binding • amino acid binding • identical protein binding • poly(A) RNA binding Cellular component • nucleus • cytoplasm • mitochondrial outer membrane • lysosome • endoplasmic reticulum • cytosol • perikaryon • extracellular exosome • cell body fiber Biological process • urea cycle • citrulline metabolic process • argininosuccinate metabolic process • kidney development • liver development • arginine biosynthetic process • aspartate metabolic process • acute-phase response • midgut development • aging • response to nutrient • response to zinc ion • response to mycotoxin • response to estradiol • cellular nitrogen compound metabolic process • response to drug • small molecule metabolic process • positive regulation of nitric oxide biosynthetic process • response to growth hormone • diaphragm development • cellular response to lipopolysaccharide • cellular response to amino acid stimulus • cellular response to ammonium ion • cellular response to cAMP • cellular response to interferon-gamma • cellular response to tumor necrosis factor • cellular response to glucagon stimulus • cellular response to oleic acid • cellular response to amine stimulus • cellular response to laminar fluid shear stress • cellular response to dexamethasone stimulus • negative regulation of leukocyte cell-cell adhesion Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	445	11898
Ensembl	ENSG00000130707	ENSMUSG00000076441
UniProt	P00966	P16460
RefSeq (mRNA)	NM_000050	NM_007494
RefSeq (protein)	NP_000041	NP_031520
Location (UCSC)	Chr 9: 130.44 – 130.5 Mb	Chr 2: 31.47 – 31.52 Mb
PubMed search

Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene.^[1][2][3]

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.^[3]

References

1. Beaudet AL, O'Brien WE, Bock HG, Freytag SO, Su TS (Mar 1986). "The human argininosuccinate synthetase locus and citrullinemia". Adv Hum Genet 15: 161–96, 291–2. PMID 3513483.
2. Carritt B, Goldfarb PS, Hooper ML, Slack C (Jun 1977). "Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamsterxhuman somatic cell hybrids". Exp Cell Res 106 (1): 71–8. doi:10.1016/0014-4827(77)90242-7. PMID 852520.
3. "Entrez Gene: ASS1 argininosuccinate synthetase 1".

Further reading

• Ikeda S (2001). "[Recent advances of the treatment in metabolic disorders]". Rinsho Shinkeigaku 40 (12): 1264–6. PMID 11464474.
• 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. doi:10.1159/000130793. 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. PMC 1130788. PMID 1312326.
• 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. doi:10.1159/000173435. PMID 1372742.
• 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.
• 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.
• 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.
• 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. doi:10.1007/BF01819307. PMID 3027451.
• 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. PMC 369014. PMID 6095035.
• Bock HG, Su TS, O'Brien WE, Beaudet AL (1983). "Sequence for human argininosuccinate synthetase cDNA". Nucleic Acids Res. 11 (18): 6505–12. doi:10.1093/nar/11.18.6505. PMC 326390. PMID 6194510.
• 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.
• 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. doi:10.1007/BF00191806. PMID 7557970.
• 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. PMC 1918437. PMID 7977368.
• 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.
• Gress TM, Müller-Pillasch F, Geng M, et al. (1996). "A pancreatic cancer-specific expression profile". Oncogene 13 (8): 1819–30. PMID 8895530.
• 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.

External links

• GeneReviews/NCBI/NIH/UW entry on Urea Cycle Disorders Overview
• GeneReviews/NCBI/NIH/UW entry on Argininosuccinate Synthetase Deficiency; ASS Deficiency; Argininosuccinic Acid Synthetase Deficiency; CTLN1; Citrullinemia, Classic