Argininosuccinate synthetase 1

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Argininosuccinate synthase 1
Protein ASS1 PDB 2nz2.png
PDB rendering based on 2nz2.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ASS1 ; ASS; CTLN1
External IDs OMIM603470 MGI88090 HomoloGene6899 GeneCards: ASS1 Gene
EC number 6.3.4.5
RNA expression pattern
PBB GE ASS1 207076 s at tn.png
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:
133.32 – 133.38 Mb
Chr 2:
31.47 – 31.52 Mb
PubMed search [1] [2]

Argininosuccinate synthase 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[edit]

  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. ^ a b "Entrez Gene: ASS1 argininosuccinate synthetase 1". 

Further reading[edit]

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