MitoProteome Database

MT000045

Record overview

MITO ID	MT000045
Gene ID	445
Species	Homo sapiens (Human)
Gene Name	argininosuccinate synthase 1
Gene Symbol	ASS1
Synonyms	ASS; CTLN1;
Alternate names	argininosuccinate synthase; citrulline-aspartate ligase; citrulline--aspartate ligase; argininosuccinate synthetase 1;
Chromosome	9
Map Location	9q34.1
EC Number	6.3.4.5
Summary	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 this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
Orthologs	View 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)