{ "uniprot_canonical_ac": "P04066-1", "uniprot_ac": "P04066", "uniprot_id": "FUCO_HUMAN", "mass": { "chemical_mass": 53689.0, "monoisotopic_mass": 53689.0 }, "refseq": { "ac": "NP_000138", "name": "tissue alpha-L-fucosidase precursor", "summary": "The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000138" }, "gene_names": [ { "name": "FUCA1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04066", "id": "P04066" }, { "name": "FUCA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000138", "id": "NP_000138" }, { "name": "FUCA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000138", "id": "NP_000138" }, { "name": "Nbla10230", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04066", "id": "P04066" } ], "protein_names": [ { "name": "Tissue alpha-L-fucosidase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04066" }, { "name": "3.2.1.51", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04066" }, { "name": "Alpha-L-fucosidase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04066" }, { "name": "Alpha-L-fucosidase I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04066" }, { "name": "Alpha-L-fucoside fucohydrolase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04066" }, { "name": "tissue alpha-L-fucosidase precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000138", "id": "NP_000138" }, { "name": "tissue alpha-L-fucosidase; alpha-L-fucosidase I; fucosidase, alpha-L- 1, tissue; tissue fucosidase; a-L-fucosidase 1; I+/--L-fucosidase 1; alpha-L-fucoside fucohydrolase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000138", "id": "NP_000138" } ], "function": [ { "annotation": "Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.", "evidence": [ { "database": "UniProtKB", "id": "P04066", "url": "https://www.uniprot.org/uniprot/P04066#function" }, { "database": "PubMed", "id": "9741689", "url": "https://glygen.org/publication/PubMed/9741689" } ] }, { "annotation": "Comparative studies on the substrate specificity and defucosylation activity of three alpha-l-fucosidases using synthetic fucosylated glycopeptides and glycoproteins as substrates.", "evidence": [ { "database": "RefSeq", "id": "NP_000138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000138" }, { "database": "PubMed", "id": "34126284", "url": "https://glygen.org/publication/PubMed/34126284" } ] }, { "annotation": "Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis.", "evidence": [ { "database": "RefSeq", "id": "NP_000138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000138" }, { "database": "PubMed", "id": "35907402", "url": "https://glygen.org/publication/PubMed/35907402" } ] }, { "annotation": "Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.", "evidence": [ { "database": "RefSeq", "id": "NP_000138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000138" }, { "database": "PubMed", "id": "36876340", "url": "https://glygen.org/publication/PubMed/36876340" } ] }, { "annotation": "The long-awaited structure of human fucosidase FucA1 opens novel avenues for the treatment of fucosidosis.", "evidence": [ { "database": "RefSeq", "id": "NP_000138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000138" }, { "database": "PubMed", "id": "36206736", "url": "https://glygen.org/publication/PubMed/36206736" } ] }, { "annotation": "The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_000138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000138" } ] } ], "disease": [ { "disease_id": "DOID:14500", "recommended_name": { "id": "DOID:14500", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14500", "name": "fucosidosis", "description": "" }, "synonyms": [ { "id": "DOID:14500", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14500", "name": "A-fucosidase deficiency", "description": "" }, { "id": "DOID:14500", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14500", "name": "alpha fucosidase deficiency", "description": "" }, { "id": "MONDO:0009254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009254", "name": "fucosidosis", "description": "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." }, { "id": "MONDO:0009254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009254", "name": "A-fucosidase deficiency", "description": "" }, { "id": "MONDO:0009254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009254", "name": "Alpha-L-fucosidase deficiency", "description": "" }, { "id": "MONDO:0009254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009254", "name": "alpha fucosidase deficiency", "description": "" }, { "id": "MONDO:0009254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009254", "name": "fucosidosis", "description": "" }, { "id": "MONDO:0009254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009254", "name": "lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues", "description": "" }, { "id": "MIM:230000", "resource": "MIM", "url": "https://www.omim.org/entry/230000", "name": "Fucosidosis", "description": "Fucosidosis" } ], "evidence": [ { "id": "0009254", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009254" }, { "id": "230000", "database": "MIM", "url": "https://www.omim.org/entry/230000" }, { "id": "2517", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2517#disease" } ] } ], "snv": [ { "evidence": [ { "id": "rs149540896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149540896" }, { "id": "rs149540896", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149540896" }, { "id": "rs149540896", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149540896" }, { "id": "rs149540896", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149540896#frequency_tab" }, { "id": "rs149540896", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149540896" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 178, "end_pos": 178, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIR->NIS).", "chr_id": "1", "chr_pos": "23863264", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.001198", "site_lbl": "R178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04066", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04066" } ], "glycoeffect": [], "start_pos": 286, "end_pos": 286, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "23854472", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q286", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein.", "journal": "European journal of biochemistry", "date": "1995", "authors": "Tan J, D'Agostaro AF, Bendiak B, Reck F, Sarkar M, Squire JA, Leong P, Schachter H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "7635144", "url": "https://glygen.org/publication/PubMed/7635144" } ] }, { "title": "Expression of human chromosome 19p alpha(1,3)-fucosyltransferase genes in normal tissues. Alternative splicing, polyadenylation, and isoforms.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Cameron HS, Szczepaniak D, Weston BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "7650030", "url": "https://glygen.org/publication/PubMed/7650030" } ] }, { "title": "Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.", "journal": "Journal of medical genetics", "date": "1994", "authors": "Cragg H, Winchester B, Seo HC, O'Brien J, Swallow D", "evidence": [ { "database": "UniProtKB", "id": "P04066", "url": "https://www.uniprot.org/uniprot/P04066" } ], "reference": [ { "type": "PubMed", "id": "7815431", "url": "https://glygen.org/publication/PubMed/7815431" } ] }, { "title": "A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.", "journal": "Human molecular genetics", "date": "1994", "authors": "Seo HC, Yang M, Tonlorenzi R, Willems PJ, Kim AH, Filocamo M, Gatti R, DiCioccio RA, O'Brien JS", "evidence": [ { "database": "UniProtKB", "id": "P04066", "url": "https://www.uniprot.org/uniprot/P04066" } ], "reference": [ { "type": "PubMed", "id": "7874128", "url": "https://glygen.org/publication/PubMed/7874128" } ] }, { "title": "Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.", "journal": "Biochimica et biophysica acta", "date": "1993", "authors": "Yang M, Allen H, DiCioccio RA", "evidence": [ { "database": "UniProtKB", "id": "P04066", "url": "https://www.uniprot.org/uniprot/P04066" } ], "reference": [ { "type": "PubMed", "id": "8399358", "url": "https://glygen.org/publication/PubMed/8399358" } ] }, { "title": "Fucosidosis: four new mutations and a new polymorphism.", "journal": "Human molecular genetics", "date": "1993", "authors": "Seo HC, Willems PJ, Kretz KA, Martin BM, O'Brien JS", "evidence": [ { "database": "UniProtKB", "id": "P04066", "url": "https://www.uniprot.org/uniprot/P04066" } ], "reference": [ { "type": "PubMed", "id": "8504303", "url": "https://glygen.org/publication/PubMed/8504303" } ] }, { "title": "Molecular cloning and expression of cDNAs encoding human alpha-mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Misago M, Liao YF, Kudo S, Eto S, Mattei MG, Moremen KW, Fukuda MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "8524845", "url": "https://glygen.org/publication/PubMed/8524845" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.", "journal": "American journal of human genetics", "date": "1996", "authors": "Tan J, Dunn J, Jaeken J, Schachter H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "8808595", "url": "https://glygen.org/publication/PubMed/8808595" } ] }, { "title": "Expression cloning of a human sulfotransferase that directs the synthesis of the HNK-1 glycan on the neural cell adhesion molecule and glycolipids.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ong E, Yeh JC, Ding Y, Hindsgaul O, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "9478973", "url": "https://glygen.org/publication/PubMed/9478973" } ] }, { "title": "Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts.", "journal": "Journal of lipid research", "date": "1998", "authors": "Asfaw B, Schindler D, Ledvinova J, Cerny B, Smid F, Conzelmann E", "evidence": [ { "database": "UniProtKB", "id": "P04066", "url": "https://www.uniprot.org/uniprot/P04066" } ], "reference": [ { "type": "PubMed", "id": "9741689", "url": "https://glygen.org/publication/PubMed/9741689" } ] }, { "title": "A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene.", "journal": "Journal of inherited metabolic disease", "date": "1998", "authors": "Fleming CJ, Sinclair DU, White EJ, Winchester B, Whiteford ML, Connor JM", "evidence": [ { "database": "UniProtKB", "id": "P04066", "url": "https://www.uniprot.org/uniprot/P04066" } ], "reference": [ { "type": "PubMed", "id": "9762612", "url": "https://glygen.org/publication/PubMed/9762612" } ] }, { "title": "Expression of human alpha-l-fucosyltransferase gene homologs in monkey kidney COS cells and modification of potential fucosyltransferase acceptor substrates by an endogenous glycosidase.", "journal": "Glycobiology", "date": "1999", "authors": "Clarke JL, Watkins WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "9949196", "url": 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"MWDLKSEWWAVGFGLLLLLAASAQAGGLAPHHYTPDWPSLDSRPLPRWFDEAKFGLFVHWGVYSVPAWGSEWFWWHWQGEQSSAYVRFMKENYPPGFSYADFAPQFTARFFHPEEWADLFQAAGAKYVVLTAKHHEGFTNWPSAVSWNWNSKDVGPHRDLVGELGAAVRKRNIRYGLYHSLFEWFHPLYLLDKKNGLKTQHFVSTKTMPELYDLVNRYKPDLIWSDGEWECPDSYWNSTEFLAWLYNESPVKDQVVVNDRWGQNCSCRHGGYYNCEDKYRPHSLPDHKWEMCTSVDKASWGYRRDMSMSTIVDENEIIEELVQTISLGGNYLLNIGPNKDGVIVPIFQERLLAVGKWLQINGEAIYASKPWRVQSERNKTVVWYTTKDSAVYATFLHWPEDGVVNLQSPKMTSATKITMLGMEGELHWTQDPLEGVLITLPQLPPGTFPVESAWTLKLTKVN", "length": 462 }, "evidence": [ { "id": "45920995", "url": "http://www.informatics.jax.org/homology/45920995", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q99LJ1-1", "protein_name": "Tissue alpha-L-fucosidase", "gene_name": "Fuca1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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], "pmid": "" }, { "name": "azurophil granule lumen", "id": "GO:0035578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035578", "evidence": [ { "database": "UniProtKB", "id": "P04066", "url": "https://www.uniprot.org/uniprot/P04066" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "P04066", "url": "https://www.uniprot.org/uniprot/P04066" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "alpha-L-fucosidase activity", "id": "GO:0004560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004560", "evidence": [ { "database": "UniProtKB", "id": "P04066", "url": "https://www.uniprot.org/uniprot/P04066" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 241, "end_pos": 243, "annotation": "n_glycosylation_sequon" }, { "start_pos": 251, "end_pos": 253, "annotation": "n_glycosylation_sequon" }, { "start_pos": 268, "end_pos": 270, "annotation": "n_glycosylation_sequon" }, { "start_pos": 382, "end_pos": 384, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12288", "name": "", "equation": "an alpha-L-fucoside + H2O = an alcohol + L-fucose", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYS4-1", "P17164-1", "Q9BTY2-1", "P04066-1", "Q99KR8-1", "Q99LJ1-1", "P10901-1", "Q9VTJ4-1" ], "evidence": [ { "id": "12288", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12288" } ] }, { "id": "48224", "name": "", "equation": "a neolactoside IV(2)-alpha-Fuc-nLc4Cer(d18:1(4E)) + H2O = a neolactoside nLc4Cer(d18:1(4E)) + L-fucose", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P17164-1", "Q6AYS4-1", "P04066-1", "Q99LJ1-1", "Q551C1-1" ], "evidence": [ { "id": "48224", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/48224" } ] }, { "id": "49308", "name": "", "equation": "a neolactoside IV(2)-alpha-Fuc-nLc4Cer(d18:0) + H2O = a neolactoside nLc4Cer(d18:0) + L-fucose", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P17164-1", "Q6AYS4-1", "P04066-1", "Q99LJ1-1", "Q551C1-1" ], "evidence": [ { "id": "49308", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/49308" } ] }, { "id": "R-HSA-5693807", "name": "FUCA1 hydrolyses NGP:1,6-GlcNAc", "equation": "", "summary": "Tissue alpha-L-fucosidase (FUCA1) is a lysosomal enzyme that removes terminal L-fucose residues from the oligosaccharide chains of N-glycoproteins (NGPs). In humans, FUCA1 encodes the tissue enzyme, whilst FUCA2 encodes plasma alpha-L-fucosidase (Intra et al. 2007). Defects in FUCA1 can cause fucosidosis (FUCA1D; MIM:230000), a rare lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation (Willems et al. 1999).", "cellular_location": "lysosomal lumen", "input_participant_list": [ "R-ALL-6784247" ], "output_participant_list": [ "R-ALL-6784248", "R-ALL-6784249" ], "enzyme_list": [ "P04066-1" ], "evidence": [ { "id": "R-HSA-5693807", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693807" } ] }, { "id": "R-HSA-6798751", "name": "Exocytosis of azurophil granule lumen proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).; ; MPO reacts with H2O2 formed by NADPH oxidase, increasing its toxicity by formation of hypochlorous acid and other chlorination products, tyrosine radicals and reactive nitrogen intermediates which attack the surface of microbes (Klebanoff et al. 2013).;", "cellular_location": "extracellular region, azurophil granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q05655-1", "P07686-1", "P12724-1", "P04066-1", "Q92820-1", "Q6XQN6-1", "Q99536-1", "Q9BRF8-1", "Q9UHL4-1", "P08246-1", "P34059-1", "P15586-1", "P24158-1", "Q9Y2J8-1", "P10619-1", "O00584-1", "P53396-1", "P55072-1", "P06280-1", "P28482-1", "Q9NZK5-1", "P20933-1", "P05089-1", "P15289-1", "P15848-1", "P16278-1", "Q9H7Z7-1", "P53634-1", "P08311-1", "Q9BTY2-1", "P00387-1", "P30041-1", "P05164-1", "Q8NBS9-1", "P11216-1", "P10153-1", "P61626-1", "P08236-1", "P42685-1", "P07478-1", "O00754-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6798751", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798751" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-6784247", "participant_name": "NGP:1,6-GlcNAc [lysosomal lumen]", "crossref": [ { "id": "33837", "database": "ChEBI", "url": "" }, { "id": "33837", "database": "ChEBI", "url": "" }, { "id": "33837", "database": "ChEBI", "url": "" }, { "id": "33837", "database": "ChEBI", "url": "" }, { "id": "33837", "database": "ChEBI", "url": "" }, { "id": "33837", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-6784248", "participant_name": "NGP [lysosomal lumen]", "crossref": [ { "id": "59520", "database": "ChEBI", "url": "" }, { "id": "59520", "database": "ChEBI", "url": "" }, { "id": "59520", "database": "ChEBI", "url": "" }, { "id": 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"database": "ZINC", "url": "" }, { "id": "000001532813", "database": "ZINC", "url": "" }, { "id": "000001532813", "database": "ZINC", "url": "" }, { "id": "C01019", "database": "COMPOUND", "url": "" }, { "id": "2181", "database": "ChEBI", "url": "" }, { "id": "G82576YO", "database": "GlyTouCan", "url": "" }, { "id": "000001532814", "database": "ZINC", "url": "" }, { "id": "2181", "database": "ChEBI", "url": "" }, { "id": "G82576YO", "database": "GlyTouCan", "url": "" }, { "id": "C01019", "database": "COMPOUND", "url": "" }, { "id": "000001532814", "database": "ZINC", "url": "" }, { "id": "000001532813", "database": "ZINC", "url": "" }, { "id": "2181", "database": "ChEBI", "url": "" }, { "id": "G82576YO", "database": "GlyTouCan", "url": "" }, { "id": "C01019", "database": "COMPOUND", "url": "" }, { "id": "000001532814", "database": "ZINC", "url": "" }, { "id": "000001532813", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00584", "gene_name": "RNASET2", "activity": [ { "ec_number": "4.6.1.19", "activity": "a ribonucleotidyl-ribonucleotide-RNA + H2O = a 3'-end 3'-phospho-ribonucleotide-RNA + a 5'-end dephospho-ribonucleoside-RNA + H(+).", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] }, { "ec_number": "4.6.1.19", "activity": "", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] } ] }, { "uniprot_ac": "O00754", "gene_name": "MAN2B1", "activity": [ { "ec_number": "3.2.1.24", "activity": "Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] }, { "ec_number": "3.2.1.24", "activity": "", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] } ] }, { "uniprot_ac": "P00387", "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": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] } ] }, { "uniprot_ac": "P04066", "gene_name": "FUCA1", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] } ] }, { "uniprot_ac": "P05089", "gene_name": "ARG1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] } ] }, { "uniprot_ac": "P05164", "gene_name": "MPO", "activity": [ { "ec_number": "1.11.2.2", "activity": "chloride + H(+) + H2O2 = H2O + hypochlorous acid.", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] }, { "ec_number": "1.11.2.2", "activity": "", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] } ] }, { "uniprot_ac": "P06280", "gene_name": "GLA", "activity": [ { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + D-galactose.", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] } ] }, { "uniprot_ac": "P07478", "gene_name": "PRSS2", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] } ] }, { "uniprot_ac": "P07686", "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": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] }, { "ec_number": "3.2.1.52", "activity": "", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "uniprot_ac": "P08246", "gene_name": "ELANE", "activity": [ { "ec_number": "3.4.21.37", "activity": "Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] }, { "ec_number": "3.4.21.37", "activity": "", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] } ] }, { "uniprot_ac": "P08311", "gene_name": "CTSG", "activity": [ { "ec_number": "3.4.21.20", "activity": "Specificity similar to chymotrypsin C.", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] }, { "ec_number": "3.4.21.20", "activity": "", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] } ] }, { "uniprot_ac": "P10153", "gene_name": "RNASE2", "activity": [ { "ec_number": "4.6.1.18", "activity": "an [RNA] containing cytidine + H2O = an [RNA]-3'-cytidine-3'-phosphate + a 5'-hydroxy-ribonucleotide-3'-[RNA].", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] }, { "ec_number": "4.6.1.18", "activity": "", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] } ] }, { "uniprot_ac": "P10619", "gene_name": "CTSA", "activity": [ { "ec_number": "3.4.16.-", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "Release of a C-terminal amino acid with broad specificity.", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] } ] }, { "uniprot_ac": "P10901", "gene_name": "alfA", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "P10901", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10901" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "P10901", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10901" } ] } ] }, { "uniprot_ac": "P11216", "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": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] } ] }, { "uniprot_ac": "P12724", "gene_name": "RNASE3", "activity": [ { "ec_number": "3.1.27.-", "activity": "", "evidence": [ { "id": "P12724", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12724" } ] } ] }, { "uniprot_ac": "P15289", "gene_name": "ARSA", "activity": [ { "ec_number": "3.1.6.8", "activity": "H2O + N-acyl-1-beta-D-(3-O-sulfo)-galactosyl-sphing-4-enine = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H(+) + sulfate.", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] }, { "ec_number": "3.1.6.8", "activity": "", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] } ] }, { "uniprot_ac": "P15586", "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": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "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": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "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": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "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": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P20933", "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": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] }, { "ec_number": "3.5.1.26", "activity": "", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] } ] }, { "uniprot_ac": "P24158", "gene_name": "PRTN3", "activity": [ { "ec_number": "3.4.21.76", "activity": "Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-.", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] }, { "ec_number": "3.4.21.76", "activity": "", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P30041", "gene_name": "PRDX6", "activity": [ { "ec_number": "1.11.1.27", "activity": "a hydroperoxide + 2 glutathione = an alcohol + glutathione disulfide + H2O.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "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": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "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": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "1.11.1.27", "activity": "", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] } ] }, { "uniprot_ac": "P34059", "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": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] }, { "ec_number": "3.1.6.4", "activity": "", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] } ] }, { "uniprot_ac": "P42685", "gene_name": "FRK", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] } ] }, { "uniprot_ac": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P53634", "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": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] }, { "ec_number": "3.4.14.1", "activity": "", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "P61626", "gene_name": "LYZ", "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": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] }, { "ec_number": "3.2.1.17", "activity": "", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] } ] }, { "uniprot_ac": "Q05655", "gene_name": "PRKCD", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] }, { "ec_number": "2.7.11.13", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] }, { "ec_number": "2.7.11.13", "activity": "", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] } ] }, { "uniprot_ac": "Q551C1", "gene_name": "", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "Q551C1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q551C1" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "Q551C1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q551C1" } ] } ] }, { "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": "Q6XQN6", "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": "Q6XQN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN6" } ] }, { "ec_number": "6.3.4.21", "activity": "", "evidence": [ { "id": "Q6XQN6", 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