Argininosuccinate synthetase 1

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

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

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. GRCh38: Ensembl release 89: ENSG00000130707 - Ensembl, May 2017
  2. 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. 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. pp. 161–96, 291–2. doi:10.1007/978-1-4615-8356-1_3. ISBN 978-1-4615-8358-5. PMID 3513483. {{cite book}}: |journal= ignored (help)
  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. "Entrez Gene: ASS1 argininosuccinate synthetase 1".
  8. Novel Bladder Cancer Therapy Based on Arginine Deprivation Shows Promising Results
  9. Novel Approach to Bladder Cancer Chemotherapy Based on Arginine Depletion
  10. Frequent ASS1 deficiency in bladder cancer and sensitivity to pegylated arginine deiminase (ADI-PEG20): A potential novel therapeutic strategy
  11. Prognostic and therapeutic impact of argininosuccinate synthetase 1 control in bladder cancer as monitored longitudinally by PET imaging.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.