Argininosuccinate synthetase 1

ASS1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases ASS1, ASS, CTLN1, Argininosuccinate synthetase 1, argininosuccinate synthase 1
External IDs MGI: 88090 HomoloGene: 6899 GeneCards: ASS1
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_054012

NM_007494

RefSeq (protein)

NP_000041.2
NP_446464.1

NP_031520.1

Location (UCSC) Chr 9: 130.44 – 130.5 Mb Chr 2: 31.47 – 31.52 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene.[3][4][5]

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.[5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. 1 2 "Entrez Gene: ASS1 argininosuccinate synthetase 1".

Further reading

External links


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