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MGP000227

Record overview

MGPD IDMGP000227
Gene ID445
SpeciesHomo sapiens (Human)
Gene Nameargininosuccinate synthase 1
Gene Symbol ASS1
SynonymsASS; CTLN1;
Alternate namesargininosuccinate synthase; argininosuccinate synthetase 1; citrulline--aspartate ligase; citrulline-aspartate ligase;
Chromosome9
Map Location9q34.1
EC Number6.3.4.5
SummaryThe 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 this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
OrthologsView orthologs and multiple alignments for ASS1

Proteins

argininosuccinate synthase
Refseq ID:NP_446464
Protein GI:16950633
UniProt ID:P00966
mRNA ID:NM_054012
Length:412
RefSeq Status:
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSSALYEDRYLLGTSLARPCIAR
KQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDLMEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKN
QAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKDGTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAF
TMDREVRKIKQGLGLKFAELVYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK
 
argininosuccinate synthase
Refseq ID:NP_000041
Protein GI:53759107
UniProt ID:P00966
mRNA ID:NM_000050
Length:412
RefSeq Status:
Protein sequence is identical to GI:16950633 (mRNA isoform)
 
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