ASS1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesASS1, ASS, CTLN1, Argininosuccinate synthetase 1, argininosuccinate synthase 1
External IDsOMIM: 603470 MGI: 88090 HomoloGene: 6899 GeneCards: ASS1
Orthologs
SpeciesHumanMouse
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 MbChr 2: 31.36 – 31.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene.[5][6][7]

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.[7]

Clinical significance

Mutations in the chromosome 9 copy of ASS cause citrullinemia.[5]

40% to 90%[8] of bladder cancers are deficient in argininosuccinate synthetase.[9][10][11]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000130707 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000076441 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 Beaudet AL, O'Brien WE, Bock HG, Freytag SO, Su TS (Mar 1986). "The Human Argininosuccinate Synthetase Locus and Citrullinemia". Advances in Human Genetics 15. Vol. 15. pp. 161–96, 291–2. doi:10.1007/978-1-4615-8356-1_3. ISBN 978-1-4615-8358-5. PMID 3513483.
  6. 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.
  7. 1 2 "Entrez Gene: ASS1 argininosuccinate synthetase 1".
  8. Novel Bladder Cancer Therapy Based on Arginine Deprivation Shows Promising Results
  9. Sahu D, Gupta S, Hau AM, Nakashima K, Leivo MZ, Searles SC, Elson P, Bomalaski JS, Casteel DE, Boss GR, Hansel DE (12 December 2016). "Argininosuccinate Synthetase 1 Loss in Invasive Bladder Cancer Regulates Survival through General Control Nonderepressible 2 Kinase–Mediated Eukaryotic Initiation Factor 2α Activity and Is Targetable by Pegylated Arginine Deiminase". The American Journal of Pathology. 187 (1): 200–213. doi:10.1016/j.ajpath.2016.09.004. PMC 5225295. PMID 27979310.
  10. Michael Allen, Nelofer Syed, Tim Crook, Louise Jones, Nicholas R. Lemoine, Dan Berney, Peter Szlosarek (15 July 2010). "Frequent ASS1 deficiency in bladder cancer and sensitivity to pegylated arginine deiminase (ADI-PEG20): A potential novel therapeutic strategy". Clinical Cancer Research. 16. A23. doi:10.1158/1078-0432.TCMUSA10-A23.
  11. Allen MD, Luong P, Hudson C, Leyton J, Delage B, Ghazaly E, Cutts R, Yuan M, Syed N, Lo Nigro C, Lattanzio L, Chmielewska-Kassassir M, Tomlinson I, Roylance R, Whitaker HC, Anne Y. Warren, David Neal, Christian Frezza, Luis Beltran, Louise J. Jones, Claude Chelala, Bor-Wen Wu, John S. Bomalaski, Robert C. Jackson, Yong-Jie Lu, Tim Crook, Nicholas R. Lemoine, Stephen Mather, Julie Foster, Jane Sosabowski, Norbert Avril, Chien-Feng Li, Peter W. Szlosarek (2014-02-01). "Prognostic and Therapeutic Impact of Argininosuccinate Synthetase 1 Control in Bladder Cancer as Monitored Longitudinally by PET Imaging". Cancer Research. 74 (3): 896–907. doi:10.1158/0008-5472.CAN-13-1702. PMID 24285724.

Further reading


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