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MGP000223

UniProt Annotations

Entry Information
Gene Nameargininosuccinate lyase
Protein EntryARLY_HUMAN
UniProt IDP04424
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P04424-1; Sequence=Displayed; Name=2; IsoId=P04424-2; Sequence=VSP_047256; Note=Gene prediction based on EST data.; Name=3; IsoId=P04424-3; Sequence=VSP_047255; Note=Gene prediction based on EST data.;
Catalytic Activity2-(N(omega)-L-arginino)succinate = fumarate + L-arginine.
DiseaseArgininosuccinic aciduria (ARGINSA) [MIM:207900]: An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. {ECO:0000269|PubMed:12408190, ECO:0000269|PubMed:1705937, ECO:0000269|PubMed:17326097, ECO:0000269|PubMed:2263616}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationEnzyme activity is regulated by acetylation. {ECO:0000250}.
PathwayAmino-acid biosynthesis; L-arginine biosynthesis; L- arginine from L-ornithine and carbamoyl phosphate: step 3/3.
PathwayNitrogen metabolism; urea cycle; L-arginine and fumarate from (N(omega)-L-arginino)succinate: step 1/1.
PtmAcetylation modifies enzyme activity in response to alterations of extracellular nutrient availability. Acetylation increased with trichostin A (TSA) or with nicotinamide (NAM). Glucose increases acetylation by about a factor of 3 with decreasing enzyme activity. Acetylation on Lys-288 is decreased on the addition of extra amino acids resulting in activation of enzyme activity. {ECO:0000269|PubMed:20167786}.
Sequence CautionSequence=AAA51786.1; Type=Frameshift; Positions=387, 452; Evidence={ECO:0000305};
SimilarityBelongs to the lyase 1 family. Argininosuccinate lyase subfamily. {ECO:0000305}.
SubunitHomotetramer.
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