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MGP Database

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MGP000225

UniProt Annotations

Entry Information

Gene Name	asparagine synthetase (glutamine-hydrolyzing)
Protein Entry	ASNS_HUMAN
UniProt ID	P08243
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P08243-1; Sequence=Displayed; Name=2; IsoId=P08243-2; Sequence=VSP_045818; Note=No experimental confirmation available.; Name=3; IsoId=P08243-3; Sequence=VSP_045817; Note=No experimental confirmation available.;
Catalytic Activity	ATP + L-aspartate + L-glutamine + H(2)O = AMP + diphosphate + L-asparagine + L-glutamate. {ECO:0000269\|PubMed:2573597}.
Disease	Asparagine synthetase deficiency (ASNSD) [MIM:615574]: An inborn error of asparagine biosynthesis that results in a severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity. {ECO:0000269\|PubMed:24139043}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Pathway	Amino-acid biosynthesis; L-asparagine biosynthesis; L- asparagine from L-aspartate (L-Gln route): step 1/1.
Similarity	Contains 1 asparagine synthetase domain. {ECO:0000305}.
Similarity	Contains 1 glutamine amidotransferase type-2 domain. {ECO:0000255\|PROSITE-ProRule:PRU00609}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ASNSID44323ch7q21.html";