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MGP000195

UniProt Annotations

Entry Information
Gene Namearginase 1
Protein EntryARGI1_HUMAN
UniProt IDP05089
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P05089-1; Sequence=Displayed; Name=2; Synonyms=Erythroid variant; IsoId=P05089-2; Sequence=VSP_009330; Note=May be due to a competing acceptor splice site. No experimental confirmation available.; Name=3; IsoId=P05089-3; Sequence=VSP_009331;
Catalytic ActivityL-arginine + H(2)O = L-ornithine + urea.
CofactorName=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 2 manganese ions per subunit.;
DiseaseArgininemia (ARGIN) [MIM:207800]: A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia. {ECO:0000269|PubMed:1463019, ECO:0000269|PubMed:7649538}. Note=The disease is caused by mutations affecting the gene represented in this entry.
InductionBy arginine or homoarginine.
PathwayNitrogen metabolism; urea cycle; L-ornithine and urea from L-arginine: step 1/1.
SimilarityBelongs to the arginase family. {ECO:0000255|PROSITE- ProRule:PRU00742}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:16141327}.
SubunitHomotrimer. {ECO:0000269|PubMed:16141327, ECO:0000269|PubMed:17469833, ECO:0000269|PubMed:17562323, ECO:0000269|PubMed:18802628, ECO:0000269|PubMed:2241902}.
Web ResourceName=Wikipedia; Note=Arginase entry; URL="http://en.wikipedia.org/wiki/Arginase";
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