{ "uniprot_canonical_ac": "D3ZJF9-1", "uniprot_ac": "D3ZJF9", "uniprot_id": "D3ZJF9_RAT", "mass": { "chemical_mass": 47673.0, "monoisotopic_mass": 47673.0 }, "refseq": { "ac": "NP_001102290", "name": "alpha-galactosidase A", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102290" }, "gene_names": [ { "name": "Gla", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/D3ZJF9", "id": "D3ZJF9" }, { "name": "Gla", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102290", "id": "NP_001102290" } ], "protein_names": [ { "name": "Alpha-galactosidase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "D3ZJF9" }, { "name": "3.2.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "D3ZJF9" }, { "name": "alpha-galactosidase A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102290", "id": "NP_001102290" } ], "function": [ { "annotation": "Alpha-Galactosidase A-deficient develop cardiorenal phenotypes of Fabry disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001102290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102290" }, { "database": "PubMed", "id": "29979634", "url": "https://glygen.org/publication/PubMed/29979634" } ] } ], "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "evidence": [ { "id": "14499", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:3211", "recommended_name": { "id": "DOID:3211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3211", "name": "lysosomal storage disease", "description": "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function." }, "synonyms": [ { "id": "DOID:3211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3211", "name": "disorder of lysosomal enzyme", "description": "" }, { "id": "DOID:3211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3211", "name": "inborn lysosomal enzyme disorder", "description": "" }, { "id": "DOID:3211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3211", "name": "lysosomal storage metabolism disorder", "description": "" } ], "evidence": [ { "id": "3211", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3211" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "common_name": "Rat" } ], "gene": [ { "name": "Gla", "url": "https://www.uniprot.org/uniprot/D3ZJF9", "locus": { "chromosome": "X", "start_pos": 97768996, "end_pos": 97780664, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000011513", "url": "https://www.ensembl.org/id/ENSRNOG00000011513" } ] } } ], "crossref": [ { "id": "ENSRNOG00000011513", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000011513", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd14792", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14792", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL4110", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4110", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "363494", "url": "https://www.ncbi.nlm.nih.gov/gene/363494", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000111", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000111", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002241", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002241", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013780", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013780", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013785", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013785", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017853", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017853", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035373", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035373", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:363494", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:363494", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "MTPTMGW", "url": "https://omabrowser.org/oma/group/MTPTMGW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR11452", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11452", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11452:SF14", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11452:SF14", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF16499", "url": "http://pfam.xfam.org/family/PF16499", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17450", "url": "http://pfam.xfam.org/family/PF17450", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9840310", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001102290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102290", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1589721", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1589721", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3ZJF9-1", "url": "https://www.uniprot.org/uniprot/D3ZJF9-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAMKLLSGDTPLVCELALRPLALVFWSILGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDACISEQLFMQMAELMVSDGWRDAGYEYLCIDDCWMAPERDSKGRLQADPKRFPSGIKHLANYVHSKGLKLGIYADVGKKTCAGFPGSFGSYDIDAQTFADWGIDLLKFDGCHCDSVVSLANGYKYMSLALNRTGRSIVYSCEWPLYLRPFHKPNYTDIQYYCNHWRNFDDVYDSWESIKSILAWTVTHQKDIVEVAGPGGWNDPDMLVIGNFGLSWDQQVTQMALWAIMAAPLLMSNDLRQISSQAKALLQNEDVIAINQDPLGKQGYCFRKENEIEVWERPLSNLAWAVAVRNLQEIGGPRFYTIQISSLGRGLACNPGCIITQILPEKVHLGFYEWPLTLKTRINPSGTVLLRLER", "length": 421, "header": "tr|D3ZJF9-1|D3ZJF9_RAT Isoform 1 of Alpha-galactosidase OS=Rattus norvegicus OX=10116 GN=Gla PE=3 SV=3 CANONICAL=D3ZJF9-1" }, "isoforms": [ { "isoform_ac": "D3ZJF9-1", "url": "", "sequence": { "sequence": "MAMKLLSGDTPLVCELALRPLALVFWSILGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDACISEQLFMQMAELMVSDGWRDAGYEYLCIDDCWMAPERDSKGRLQADPKRFPSGIKHLANYVHSKGLKLGIYADVGKKTCAGFPGSFGSYDIDAQTFADWGIDLLKFDGCHCDSVVSLANGYKYMSLALNRTGRSIVYSCEWPLYLRPFHKPNYTDIQYYCNHWRNFDDVYDSWESIKSILAWTVTHQKDIVEVAGPGGWNDPDMLVIGNFGLSWDQQVTQMALWAIMAAPLLMSNDLRQISSQAKALLQNEDVIAINQDPLGKQGYCFRKENEIEVWERPLSNLAWAVAVRNLQEIGGPRFYTIQISSLGRGLACNPGCIITQILPEKVHLGFYEWPLTLKTRINPSGTVLLRLER", "length": 421, "header": "tr|D3ZJF9-1|D3ZJF9_RAT Isoform 1 of Alpha-galactosidase OS=Rattus norvegicus OX=10116 GN=Gla PE=3 SV=3 CANONICAL=D3ZJF9-1" }, "locus": { "chromosome": "X", "start_pos": 97780638, "end_pos": 97770107, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000015494.8", "url": "https://www.ensembl.org/id/ENSRNOT00000015494.8" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000015494.6", "url": "https://www.ensembl.org/id/ENSRNOP00000015494.6" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "alpha-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2019", "authors": "Miller JJ, Aoki K, Mascari CA, Beltrame AK, Sokumbi O, North PE, Tiemeyer M, Kriegel AJ, Dahms NM", "evidence": [ { "database": "RefSeq", "id": "NP_001102290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102290" } ], "reference": [ { "type": "PubMed", "id": "29979634", "url": "https://glygen.org/publication/PubMed/29979634" } ] } ], "pathway": [ { "id": "rno:363494", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:363494", "resource": "KEGG Pathway" }, { "id": "R-RNO-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-RNO-9840310", "name": "Glycosphingolipid catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9840310", "resource": "Reactome", "description": "Glycosphingolipid catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "P06280-1", "protein_name": "Alpha-galactosidase A", "gene_name": "GLA", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL", "length": 429 }, "evidence": [ { "id": "45237777", "url": "http://www.informatics.jax.org/homology/45237777", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P51569-1", "protein_name": "Alpha-galactosidase A", "gene_name": "Gla", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKLLSRDTRLVCELALCPLALVFWSILGVRALDNGLARTPTMGWLHWERFMCNLDCQEEPDACISEQLFMQMAELMVSDGWRDAGYDYLCIDDCWMAPERDSKGRLQADPQRFPSGIKHLANYVHSKGLKLGIYADVGNKTCAGFPGSFGSYDIDAQTFADWGVDLLKFDGCHCDSVVSLENGYKYMALALNRTGRSIVYSCEWPLYLRPFHKPNYTDIQYYCNHWRNFDDVYDSWESIKNILSWTVVYQKEIVEVAGPGSWNDPDMLVIGNFGLSWDQQVTQMALWAIMAAPLLMSNDLRQISSQAKALLQNKDVIAINQDPLGKQGYCFRKENHIEVWERPLSNLAWAVAVRNLQEIGGPCPYTIQISSLGRGLACNPGCIITQLLPEKVHLGFYEWTLTLKTRVNPSGTVLFRLER", "length": 419 }, "evidence": [ { "id": "45237777", "url": "http://www.informatics.jax.org/homology/45237777", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "alpha-galactosidase activity", "id": "GO:0004557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004557", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "galactoside binding", "id": "GO:0016936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016936", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "galactosylgalactosylglucosylceramidase activity", "id": "GO:0017041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017041", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "oligosaccharide metabolic process", "id": "GO:0009311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009311", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "glycoside catabolic process", "id": "GO:0016139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016139", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide biosynthetic process", "id": "GO:0045019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045019", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "glycosylceramide catabolic process", "id": "GO:0046477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046477", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "glycosphingolipid catabolic process", "id": "GO:0046479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046479", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" }, { "name": "negative regulation of nitric-oxide synthase activity", "id": "GO:0051001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051001", "evidence": [ { "database": "UniProtKB", "id": "D3ZJF9", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 194, "end_pos": 196, "annotation": "n_glycosylation_sequon" }, { "start_pos": 217, "end_pos": 219, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-RNO-1605736", "name": "GLA hydrolyzes PSAP(195-273):Gb3Cer:PE", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZJF9-1" ], "evidence": [ { "id": "R-RNO-1605736", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1605736" } ] }, { "id": "R-RNO-6798751", "name": "Exocytosis of azurophil granule lumen proteins", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "extracellular region, azurophil granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q3MIE4-1", "P09215-1", "P63086-1", "O35244-1", "P16638-1", "P50430-1", "P53534-1", "P46462-1", "D3ZZC1-1", "Q32KJ5-1", "D3ZUM4-1", "P06760-1", "P07824-1", "P30919-1", "P80067-1", "D3ZLZ7-1", "P00697-1", "P20070-1", "P20717-1", "Q6XQN1-1", "D4AE56-1", "P70709-1", "Q62662-1", "Q66H71-1", "Q6AYS4-1", "P00762-1", "P00763-1", "P17164-1", "Q62867-1", "Q9EPB1-1", "Q32KJ6-1", "Q6AXR4-1", "D3ZJF9-1" ], "evidence": [ { "id": "R-RNO-6798751", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6798751" } ] }, { "id": "R-RNO-9841189", "name": "GLA hydrolyzes PSAP(195-273):Gal2Cer:PE", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZJF9-1" ], "evidence": [ { "id": "R-RNO-9841189", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9841189" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "D3ZJF9", "gene_name": "Gla", "activity": [ { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "D3ZJF9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZJF9" } ] } ] }, { "uniprot_ac": "D3ZLZ7", "gene_name": "Impdh1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "D3ZLZ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZLZ7" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "D3ZLZ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZLZ7" } ] } ] }, { "uniprot_ac": "D3ZUM4", "gene_name": "Glb1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "D3ZUM4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZUM4" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "D3ZUM4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZUM4" } ] } ] }, { "uniprot_ac": "D3ZZC1", "gene_name": "Txndc5", "activity": [ { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "D3ZZC1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZZC1" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "D3ZZC1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZZC1" } ] } ] }, { "uniprot_ac": "D4AE56", "gene_name": "Ptges2", "activity": [ { "ec_number": "5.3.99.3", "activity": "prostaglandin H2 = prostaglandin E2.", "evidence": [ { "id": "D4AE56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4AE56" } ] }, { "ec_number": "5.3.99.3", "activity": "", "evidence": [ { "id": "D4AE56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4AE56" } ] } ] }, { "uniprot_ac": "O35244", "gene_name": "Prdx6", "activity": [ { "ec_number": "1.11.1.27", "activity": "a hydroperoxide + 2 glutathione = an alcohol + glutathione disulfide + H2O.", "evidence": [ { "id": "O35244", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35244" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "O35244", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35244" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "O35244", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35244" } ] }, { "ec_number": "1.11.1.27", "activity": "", "evidence": [ { "id": "O35244", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35244" } ] } ] }, { "uniprot_ac": "P00697", "gene_name": "Lyz1", "activity": [ { "ec_number": "3.2.1.17", "activity": "Hydrolysis of (1->4)-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.", "evidence": [ { "id": "P00697", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00697" } ] }, { "ec_number": "3.2.1.17", "activity": "", "evidence": [ { "id": "P00697", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00697" } ] } ] }, { "uniprot_ac": "P00762", "gene_name": "Prss1", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P00762", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00762" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P00762", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00762" } ] } ] }, { "uniprot_ac": "P00763", "gene_name": "Prss2", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P00763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00763" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P00763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00763" } ] } ] }, { "uniprot_ac": "P06760", "gene_name": "Gusb", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P06760", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06760" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P06760", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06760" } ] } ] }, { "uniprot_ac": "P07824", "gene_name": "Arg1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P07824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07824" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P07824", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07824" } ] } ] }, { "uniprot_ac": "P09215", "gene_name": "Prkcd", "activity": [ { "ec_number": "2.7.11.13", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P09215", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09215" } ] }, { "ec_number": "2.7.11.13", "activity": "", "evidence": [ { "id": "P09215", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09215" } ] } ] }, { "uniprot_ac": "P16638", "gene_name": "Acly", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P16638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16638" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P16638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16638" } ] } ] }, { "uniprot_ac": "P17164", "gene_name": "Fuca1", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "P17164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17164" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "P17164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17164" } ] } ] }, { "uniprot_ac": "P20070", "gene_name": "Cyb5r3", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "P20070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20070" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "P20070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20070" } ] } ] }, { "uniprot_ac": "P20717", "gene_name": "Padi2", "activity": [ { "ec_number": "3.5.3.15", "activity": "H2O + L-arginyl-[protein] = L-citrullyl-[protein] + NH4(+).", "evidence": [ { "id": "P20717", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20717" } ] }, { "ec_number": "3.5.3.15", "activity": "", "evidence": [ { "id": "P20717", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20717" } ] } ] }, { "uniprot_ac": "P30919", "gene_name": "Aga", "activity": [ { "ec_number": "3.5.1.26", "activity": "H2O + N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine = H(+) + L-aspartate + N-acetyl-beta-D-glucosaminylamine.", "evidence": [ { "id": "P30919", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30919" } ] }, { "ec_number": "3.5.1.26", "activity": "", "evidence": [ { "id": "P30919", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30919" } ] } ] }, { "uniprot_ac": "P46462", "gene_name": "Vcp", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P46462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46462" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P46462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46462" } ] } ] }, { "uniprot_ac": "P50430", "gene_name": "Arsb", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P50430", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50430" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P50430", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50430" } ] } ] }, { "uniprot_ac": "P53534", "gene_name": "Pygb", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P53534", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53534" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P53534", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53534" } ] } ] }, { "uniprot_ac": "P63086", "gene_name": "Mapk1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P63086", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63086" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P63086", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63086" } ] } ] }, { "uniprot_ac": "P70709", "gene_name": "Rnase3", "activity": [ { "ec_number": "3.1.27.-", "activity": "", "evidence": [ { "id": "P70709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70709" } ] } ] }, { "uniprot_ac": "P80067", "gene_name": "Ctsc", "activity": [ { "ec_number": "3.4.14.1", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro.", "evidence": [ { "id": "P80067", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P80067" } ] }, { "ec_number": "3.4.14.1", "activity": "", "evidence": [ { "id": "P80067", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P80067" } ] } ] }, { "uniprot_ac": "Q32KJ5", "gene_name": "Gns", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "Q32KJ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q32KJ5" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "Q32KJ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q32KJ5" } ] } ] }, { "uniprot_ac": "Q32KJ6", "gene_name": "Galns", "activity": [ { "ec_number": "3.1.6.4", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.", "evidence": [ { "id": "Q32KJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q32KJ6" } ] }, { "ec_number": "3.1.6.4", "activity": "", "evidence": [ { "id": "Q32KJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q32KJ6" } ] } ] }, { "uniprot_ac": "Q3MIE4", "gene_name": "Vat1", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q3MIE4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3MIE4" } ] } ] }, { "uniprot_ac": "Q62662", "gene_name": "Frk", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q62662", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62662" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "Q62662", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62662" } ] } ] }, { "uniprot_ac": "Q62867", "gene_name": "Ggh", "activity": [ { "ec_number": "3.4.19.9", "activity": "(6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)(n) + (n-1) H2O = (6S)-5,6,7,8-tetrahydrofolate + (n-1) L-glutamate.", "evidence": [ { "id": "Q62867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62867" } ] }, { "ec_number": "3.4.19.9", "activity": "", "evidence": [ { "id": "Q62867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62867" } ] } ] }, { "uniprot_ac": "Q66H71", "gene_name": "Cpped1", "activity": [ { "ec_number": "3.1.3.16", "activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.", "evidence": [ { "id": "Q66H71", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q66H71" } ] }, { "ec_number": "3.1.3.16", "activity": "", "evidence": [ { "id": "Q66H71", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q66H71" } ] } ] }, { "uniprot_ac": "Q6AXR4", "gene_name": "Hexb", "activity": [ { "ec_number": "3.2.1.52", "activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.", "evidence": [ { "id": "Q6AXR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AXR4" } ] }, { "ec_number": "3.2.1.52", "activity": "", "evidence": [ { "id": "Q6AXR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AXR4" } ] } ] }, { "uniprot_ac": "Q6AYS4", "gene_name": "Fuca2", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "Q6AYS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYS4" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "Q6AYS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYS4" } ] } ] }, { "uniprot_ac": "Q6XQN1", "gene_name": "Naprt", "activity": [ { "ec_number": "6.3.4.21", "activity": "5-phospho-alpha-D-ribose 1-diphosphate + ATP + H2O + nicotinate = ADP + diphosphate + nicotinate beta-D-ribonucleotide + phosphate.", "evidence": [ { "id": "Q6XQN1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN1" } ] }, { "ec_number": "6.3.4.21", "activity": "", "evidence": [ { "id": "Q6XQN1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN1" } ] } ] }, { "uniprot_ac": "Q9EPB1", "gene_name": "Dpp7", "activity": [ { "ec_number": "3.4.14.2", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-, preferentially when Yaa is Ala or Pro. 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