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	OMIM: 603470 MGI: 88090 HomoloGene: 6899 GeneCards: ASS1
Gene location (Human) Chr. Chromosome 9 (human) Band 9q34.11 Start 130,444,961 bp End 130,501,274 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 B|2 21.81 cM Start 31,360,219 bp End 31,410,684 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver palpebral conjunctiva kidney tubule kidney glomerulus metanephric glomerulus corpus epididymis adipose tissue rectum abdominal fat Top expressed in kidney hepatobiliary system exocrine gland liver renal cortex proximal tubule yolk sac placenta blastocyst lens More reference expression data BioGPS 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 toxic substance binding Cellular component extracellular exosome mitochondrion myelin sheath cytoplasm cytosol nucleus mitochondrial outer membrane lysosome endoplasmic reticulum neuron projection neuronal cell body perikaryon cell body fiber 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 kidney development liver development acute-phase response midgut development human ageing response to nutrient circadian rhythm response to toxic substance response to zinc ion response to mycotoxin response to amine response to estradiol response to lipopolysaccharide response to amino acid response to peptide hormone response to steroid hormone response to glucocorticoid response to growth hormone diaphragm development response to fatty acid 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 dexamethasone stimulus 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 2: 31.36 – 31.41 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

Clinical significance

Mutations in the chromosome 9 copy of ASS cause citrullinemia.

40% to 90% of bladder cancers are deficient in argininosuccinate synthetase.

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. doi:10.1042/bj2820369. 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. doi:10.1016/S0021-9258(19)38601-6. 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. S2CID 32917363.
• 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. doi:10.1128/mcb.4.10.1978. 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. doi:10.1016/S0021-9258(17)43275-3. 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. S2CID 861085.
• 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. doi:10.1159/000474998. 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. S2CID 25454450.

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
• Human ASS1 genome location and ASS1 gene details page in the UCSC Genome Browser.