======= AGA ======= == Gene Information == * **Official Symbol**: AGA * **Official Name**: aspartylglucosaminidase * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=175|175]] * **UniProt**: [[https://www.uniprot.org/uniprot/P20933|P20933]] * **Interactions**: [[https://thebiogrid.org/search.php?search=AGA&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AGA|Open PubMed]] * **OMIM**: [[https://omim.org/entry/613228|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]. * **UniProt Summary**: Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins. {ECO:0000269|PubMed:1703489, ECO:0000269|PubMed:1904874, ECO:0000269|PubMed:2401370}. |Asparaginase 2| |N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity| |protein deglycosylation| |protein self-association| |peptidase activity| |azurophil granule lumen| |lysosome| |glycoprotein metabolic process| |neutrophil degranulation| |neutrophil activation involved in immune response| |neutrophil mediated immunity| |neutrophil activation| |granulocyte activation| |leukocyte degranulation| |myeloid leukocyte mediated immunity| |myeloid cell activation involved in immune response| |myeloid leukocyte activation| |leukocyte activation involved in immune response| |cell activation involved in immune response| |regulated exocytosis| |leukocyte mediated immunity| |exocytosis| |leukocyte activation| |secretion by cell| |endoplasmic reticulum| |carbohydrate derivative metabolic process| |export from cell| |cell activation| |immune effector process| |secretion| |proteolysis| |extracellular space| |immune response| |extracellular region| |vesicle-mediated transport| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp51|Nifuroxazide 1μM R01 exp51]]|-2.09| |[[:results:exp308|Rapamycin 2μM plus FK-506 5μM R07 exp308]]|1.79| |[[:results:exp307|Rapamycin 2μM plus Cyclosporin-A 3μM R07 exp307]]|2.16| |[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|2.29| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 16555 * **Expression level (log2 read counts)**: 4.02 {{:chemogenomics:nalm6 dist.png?nolink |}}