{ "uniprot_canonical_ac": "P10619-1", "uniprot_ac": "P10619", "uniprot_id": "PPGB_HUMAN", "mass": { "chemical_mass": 54466.0, "monoisotopic_mass": 54466.0 }, "refseq": { "ac": "NP_000299", "name": "lysosomal protective protein isoform b preproprotein", "summary": "This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299" }, "gene_names": [ { "name": "CTSA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10619", "id": "P10619" }, { "name": "CTSA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299", "id": "NP_000299" }, { "name": "GLB2; GSL; NGBE; PPCA; PPGB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299", "id": "NP_000299" }, { "name": "PPGB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10619", "id": "P10619" } ], "protein_names": [ { "name": "Lysosomal protective protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10619" }, { "name": "3.4.16.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10619" }, { "name": "Carboxypeptidase C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10619" }, { "name": "Carboxypeptidase L", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10619" }, { "name": "Cathepsin A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10619" }, { "name": "PPCA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10619" }, { "name": "Protective protein cathepsin A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10619" }, { "name": "Protective protein for beta-galactosidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10619" }, { "name": "beta-galactosidase 2; lysosomal protective protein; deamidase; beta-galactosidase protective protein; carboxypeptidase C; protective protein cathepsin A; urinary kininase; carboxypeptidase-L; lysosomal carboxypeptidase A; carboxypeptidase Y-like kininase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299", "id": "NP_000299" }, { "name": "lysosomal protective protein isoform b preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299", "id": "NP_000299" } ], "function": [ { "annotation": "Combining WGCNA and machine learning to construct basement membrane-related gene index helps to predict the prognosis and tumor microenvironment of HCC patients and verifies the carcinogenesis of key gene CTSA. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299" }, { "database": "PubMed", "id": "37287981", "url": "https://glygen.org/publication/PubMed/37287981" } ] }, { "annotation": "Enhanced carboxypeptidase efficacies and differentiation of peptide epimers.", "evidence": [ { "database": "RefSeq", "id": "NP_000299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299" }, { "database": "PubMed", "id": "34774536", "url": "https://glygen.org/publication/PubMed/34774536" } ] }, { "annotation": "Identification of the prognostic, diagnostic, and biological significance of the miR-148a-3p/cathepsin A axis in hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_000299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299" }, { "database": "PubMed", "id": "36065643", "url": "https://glygen.org/publication/PubMed/36065643" } ] }, { "annotation": "Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins.", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619#function" }, { "database": "PubMed", "id": "1907282", "url": "https://glygen.org/publication/PubMed/1907282" } ] }, { "annotation": "Proteomics analysis of serum and urine identifies VCP and CTSA as potential biomarkers associated with multiple myeloma.", "evidence": [ { "database": "RefSeq", "id": "NP_000299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299" }, { "database": "PubMed", "id": "38081446", "url": "https://glygen.org/publication/PubMed/38081446" } ] }, { "annotation": "This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299" } ] } ], "disease": [ { "disease_id": "DOID:0080540", "recommended_name": { "id": "DOID:0080540", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080540", "name": "galactosialidosis", "description": "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13." }, "synonyms": [ { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "galactosialidosis", "description": "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "Goldberg syndrome", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "galactosialidosis", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "neuraminidase deficiency with beta-galactosidase deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "GSL", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "PPCA deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "cathepsin A deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "cathepsin A deficiency of", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "lysosomal protective Protein deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "lysosomal protective protein deficiency of", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "neuraminidase/Beta-galactosidase expression", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "protective Protein/Cathepsin a deficiency", "description": "" }, { "id": "MIM:256540", "resource": "MIM", "url": "https://www.omim.org/entry/256540", "name": "Galactosialidosis", "description": "Galactosialidosis" } ], "evidence": [ { "id": "0009737", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737" }, { "id": "256540", "database": "MIM", "url": "https://www.omim.org/entry/256540" } ] } ], "snv": [ { "evidence": [ { "id": "rs1601139705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1601139705" }, { "id": "rs1601139705", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1601139705" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 120, "end_pos": 120, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "20", "chr_pos": "45892399", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I120", "disease": [ { "disease_id": "DOID:0080540", "recommended_name": { "id": "DOID:0080540", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080540", "name": "galactosialidosis", "description": "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13." }, "synonyms": [ { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "galactosialidosis", "description": "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "Goldberg syndrome", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "galactosialidosis", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "neuraminidase deficiency with beta-galactosidase deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "GSL", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "PPCA deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "cathepsin A deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "cathepsin A deficiency of", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "lysosomal protective Protein deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "lysosomal protective protein deficiency of", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "neuraminidase/Beta-galactosidase expression", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "protective Protein/Cathepsin a deficiency", "description": "" }, { "id": "MIM:256540", "resource": "MIM", "url": "https://www.omim.org/entry/256540", "name": "Galactosialidosis", "description": "Galactosialidosis" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1256294756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1256294756" }, { "id": "rs1256294756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1256294756" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 145, "end_pos": 145, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->DDT).", "chr_id": "20", "chr_pos": "45892473", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N145", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765247602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765247602" }, { "id": "rs765247602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765247602" }, { "id": "rs765247602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765247602" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 216, "end_pos": 216, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDN->NDS).", "chr_id": "20", "chr_pos": "45893266", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs112880409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112880409" }, { "id": "rs112880409", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs112880409" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 333, "end_pos": 333, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->DTT).", "chr_id": "20", "chr_pos": "45895042", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1350738725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350738725" }, { "id": "rs1350738725", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350738725" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 333, "end_pos": 333, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->STT).", "chr_id": "20", "chr_pos": "45895043", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10619", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10619" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 344, "end_pos": 344, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NNP->NNS).", "chr_id": "20", "chr_pos": "45895075", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P344", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs137854548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137854548" }, { "id": "rs137854548", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137854548#frequency_tab" }, { "id": "1756715", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1756715" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 406, "end_pos": 406, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFM->NFT).", "chr_id": "20", "chr_pos": "45897769", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M406", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080540", "recommended_name": { "id": "DOID:0080540", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080540", "name": "galactosialidosis", "description": "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13." }, "synonyms": [ { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "galactosialidosis", "description": "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "Goldberg syndrome", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "galactosialidosis", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "neuraminidase deficiency with beta-galactosidase deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "GSL", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "PPCA deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "cathepsin A deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "cathepsin A deficiency of", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "lysosomal protective Protein deficiency", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "lysosomal protective protein deficiency of", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "neuraminidase/Beta-galactosidase expression", "description": "" }, { "id": "MONDO:0009737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009737", "name": "protective Protein/Cathepsin a deficiency", "description": "" }, { "id": "MIM:256540", "resource": "MIM", "url": "https://www.omim.org/entry/256540", "name": "Galactosialidosis", "description": "Galactosialidosis" } ] } ] }, { "evidence": [ { "id": "rs137868961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137868961" }, { "id": "rs137868961", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137868961" }, { "id": "rs137868961", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137868961#frequency_tab" }, { "id": "rs137868961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs137868961" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 77, "end_pos": 77, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "20", "chr_pos": "45891950", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P77", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 178, "end_pos": 178, "sequence_org": "S", "sequence_mut": "A", "comment": "Inactivates the enzyme.", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" }, { "database": "PubMed", "id": "1907282", "url": "https://glygen.org/publication/PubMed/1907282" } ] }, { "start_pos": 457, "end_pos": 457, "sequence_org": "H", "sequence_mut": "Q", "comment": "Inactivates the enzyme.", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" }, { "database": "PubMed", "id": "1907282", "url": "https://glygen.org/publication/PubMed/1907282" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "98.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "92.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "97.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "93.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "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 developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "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 located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "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": "LNCR3", "description": "" }, { "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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "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 cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10619" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "common_name": "Human" } ], "gene": [ { "name": "CTSA", "url": "https://www.uniprot.org/uniprot/P10619", "locus": { "chromosome": "20", "start_pos": 45898949, "end_pos": 45890144, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000064601", "url": "https://www.ensembl.org/id/ENSG00000064601" } ] } } ], "crossref": [ { "id": "ENSG00000064601", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064601", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P10619", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10619", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.4.16.5", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.16.5&UniProtAcc=P10619", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "CHEMBL6115", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL6115", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "CTSA", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSA", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5476", "url": "https://www.ncbi.nlm.nih.gov/gene/5476", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1477", "url": "https://glyconnect.expasy.org/browser/proteins/1477", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "9251", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9251", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P10619", "url": "https://www.ebi.ac.uk/intact/interactors/id:P10619*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001563", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001563", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018202", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018202", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029058", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029058", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033124", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033124", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5476", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5476", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "256540", "url": "http://www.omim.org/entry/256540", "database": "MIM", "categories": [ "Other" ] }, { "id": "613111", "url": "http://www.omim.org/entry/613111", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P10619", "url": "https://www.nextprot.org/entry/NX_P10619", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P10619", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10619", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "GDWMKPF", "url": "https://omabrowser.org/oma/group/GDWMKPF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1647009at2759", "url": "http://www.orthodb.org/?query=1647009at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11802", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11802", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11802:SF113", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11802:SF113", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1IVY", "url": "https://www.rcsb.org/structure/1IVY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3BP4", "url": "https://www.rcsb.org/structure/3BP4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3BP7", "url": "https://www.rcsb.org/structure/3BP7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3BXN", "url": "https://www.rcsb.org/structure/3BXN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4AZ0", "url": "https://www.rcsb.org/structure/4AZ0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4AZ3", "url": "https://www.rcsb.org/structure/4AZ3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4CI9", "url": "https://www.rcsb.org/structure/4CI9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4CIA", "url": "https://www.rcsb.org/structure/4CIA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4CIB", "url": "https://www.rcsb.org/structure/4CIB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4MWS", "url": "https://www.rcsb.org/structure/4MWS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4MWT", "url": "https://www.rcsb.org/structure/4MWT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6WIA", "url": "https://www.rcsb.org/structure/6WIA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00450", "url": "http://pfam.xfam.org/family/PF00450", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P10619", "url": "https://pharos.nih.gov/targets/P10619", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P10619", "url": "http://purl.obolibrary.org/obo/PR_P10619", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4341670", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4341670", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P10619", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A7I2V2E2", "url": "https://www.uniprot.org/uniprot/A0A7I2V2E2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2E2-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2E2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3B2", "url": "https://www.uniprot.org/uniprot/A0A7I2V3B2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3B2-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V3B2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3M2", "url": "https://www.uniprot.org/uniprot/A0A7I2V3M2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3M2-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V3M2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4D1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4D1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4D1-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4D1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4K5", "url": "https://www.uniprot.org/uniprot/A0A7I2V4K5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4K5-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4K5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4Q9", "url": "https://www.uniprot.org/uniprot/A0A7I2V4Q9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4Q9-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4Q9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4R8", "url": "https://www.uniprot.org/uniprot/A0A7I2V4R8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4R8-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4R8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V504", "url": "https://www.uniprot.org/uniprot/A0A7I2V504", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V504-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V504-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQT8", "url": "https://www.uniprot.org/uniprot/A0A7I2YQT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQT8-1", "url": "https://www.uniprot.org/uniprot/A0A7I2YQT8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10619-1", "url": "https://www.uniprot.org/uniprot/P10619-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10619-2", "url": "https://www.uniprot.org/uniprot/P10619-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JZH0", "url": "https://www.uniprot.org/uniprot/Q5JZH0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JZH0-1", "url": "https://www.uniprot.org/uniprot/Q5JZH0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQ41", "url": "https://www.uniprot.org/uniprot/U3KQ41", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQ41-1", "url": "https://www.uniprot.org/uniprot/U3KQ41-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQF1", "url": "https://www.uniprot.org/uniprot/U3KQF1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQF1-1", "url": "https://www.uniprot.org/uniprot/U3KQF1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQU6", "url": "https://www.uniprot.org/uniprot/U3KQU6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQU6-1", "url": "https://www.uniprot.org/uniprot/U3KQU6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6R5C5", "url": "https://www.uniprot.org/uniprot/X6R5C5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6R5C5-1", "url": "https://www.uniprot.org/uniprot/X6R5C5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6R8A1", "url": "https://www.uniprot.org/uniprot/X6R8A1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6R8A1-1", "url": "https://www.uniprot.org/uniprot/X6R8A1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY", "length": 480, "header": "sp|P10619-1|PPGB_HUMAN Isoform 1 of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=2 CANONICAL=P10619-1" }, "isoforms": [ { "isoform_ac": "A0A7I2V2E2-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQVQGNSPVRLPALCFALSGLSYPPAYINHPGFQLPDC", "length": 236, "header": "tr|A0A7I2V2E2-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45893140, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676967.1", "url": "https://www.ensembl.org/id/ENST00000676967.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502866.1", "url": "https://www.ensembl.org/id/ENSP00000502866.1" } ] } }, { "isoform_ac": "A0A7I2V3B2-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCKWSLAVTQAGVQCCDLGSLQPPPPGFK", "length": 389, "header": "tr|A0A7I2V3B2-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45896534, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678939.1", "url": "https://www.ensembl.org/id/ENST00000678939.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503404.1", "url": "https://www.ensembl.org/id/ENSP00000503404.1" } ] } }, { "isoform_ac": "A0A7I2V3M2-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQLPA", "length": 203, "header": "tr|A0A7I2V3M2-1|A0A7I2V3M2_HUMAN Computationally mapped isoform of Carboxypeptidase OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45892987, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678025.1", "url": "https://www.ensembl.org/id/ENST00000678025.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503463.1", "url": "https://www.ensembl.org/id/ENSP00000503463.1" } ] } }, { "isoform_ac": "A0A7I2V4D1-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCK", "length": 363, "header": "tr|A0A7I2V4D1-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45895134, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676597.1", "url": "https://www.ensembl.org/id/ENST00000676597.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503904.1", "url": "https://www.ensembl.org/id/ENSP00000503904.1" } ] } }, { "isoform_ac": "A0A7I2V4K5-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY", "length": 450, "header": "tr|A0A7I2V4K5-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45898447, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678443.1", "url": "https://www.ensembl.org/id/ENST00000678443.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504006.1", "url": "https://www.ensembl.org/id/ENSP00000504006.1" } ] } }, { "isoform_ac": "A0A7I2V4Q9-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQALVFSPDPLLLSKQV", "length": 215, "header": "tr|A0A7I2V4Q9-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45894032, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676657.1", "url": "https://www.ensembl.org/id/ENST00000676657.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504158.1", "url": "https://www.ensembl.org/id/ENSP00000504158.1" } ] } }, { "isoform_ac": "A0A7I2V4R8-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNV", "length": 260, "header": "tr|A0A7I2V4R8-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45894825, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678217.1", "url": "https://www.ensembl.org/id/ENST00000678217.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504109.1", "url": "https://www.ensembl.org/id/ENSP00000504109.1" } ] } }, { "isoform_ac": "A0A7I2V504-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWSAALPSGRDWEKR", "length": 78, "header": "tr|A0A7I2V504-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": {} }, { "isoform_ac": "A0A7I2YQT8-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCKWRCSAGPG", "length": 371, "header": "tr|A0A7I2YQT8-1|A0A7I2YQT8_HUMAN Computationally mapped isoform of Carboxypeptidase OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45898029, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678331.1", "url": "https://www.ensembl.org/id/ENST00000678331.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504524.1", "url": "https://www.ensembl.org/id/ENSP00000504524.1" } ] } }, { "isoform_ac": "P10619-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY", "length": 480, "header": "sp|P10619-1|PPGB_HUMAN Isoform 1 of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=2 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45898447, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646241.3", "url": "https://www.ensembl.org/id/ENST00000646241.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000493613.2", "url": "https://www.ensembl.org/id/ENSP00000493613.2" } ] } }, { "isoform_ac": "P10619-2", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY", "length": 463, "header": "sp|P10619-2|PPGB_HUMAN Isoform 2 of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=2 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45898447, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354880.9", "url": "https://www.ensembl.org/id/ENST00000354880.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000346952.5", "url": "https://www.ensembl.org/id/ENSP00000346952.5" } ] } }, { "isoform_ac": "Q5JZH0-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRTLLWSRIWATSSLACHSSGCGIRHCCAQGIKCAWTPPAPTQQLLPPTSTTRTCGRPSTSRSSCHNGTCASEVPWPPVTWGGGLLGLVGIGRFLRDLLCRVSQ", "length": 392, "header": "tr|Q5JZH0-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=3 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45895231, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000419493.3", "url": "https://www.ensembl.org/id/ENST00000419493.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000408533.3", "url": "https://www.ensembl.org/id/ENSP00000408533.3" } ] } }, { "isoform_ac": "U3KQ41-1", "url": "", "sequence": { "sequence": "MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVT", "length": 109, "header": "tr|U3KQ41-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=8 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45898447, "end_pos": 45891569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000607482", "url": "https://www.ensembl.org/id/ENST00000607482" }, { "database": "Ensembl Peptide", "id": "ENSP00000475524", "url": "https://www.ensembl.org/id/ENSP00000475524" } ] } }, { "isoform_ac": "U3KQF1-1", "url": "", "sequence": { "sequence": "MTSSPRAPPGEQGRGGAEMIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHY", "length": 82, "header": "tr|U3KQF1-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45891762, "end_pos": 45891326, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000606394.6", "url": "https://www.ensembl.org/id/ENST00000606394.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000475827.1", "url": "https://www.ensembl.org/id/ENSP00000475827.1" } ] } }, { "isoform_ac": "U3KQU6-1", "url": "", "sequence": { "sequence": "MTSSPRAPPGEQGRGGAEMIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQVQGAGCGQWTLLL", "length": 231, "header": "tr|U3KQU6-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45893251, "end_pos": 45891326, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678078.1", "url": "https://www.ensembl.org/id/ENST00000678078.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502993.1", "url": "https://www.ensembl.org/id/ENSP00000502993.1" } ] } }, { "isoform_ac": "X6R5C5-1", "url": "", "sequence": { "sequence": "MTSSPRAPPGEQGRGGAEMIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY", "length": 481, "header": "tr|X6R5C5-1|X6R5C5_HUMAN Computationally mapped isoform of Carboxypeptidase OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": {} }, { "isoform_ac": "X6R8A1-1", "url": "", "sequence": { "sequence": "MTSSPRAPPGEQGRGGAEMIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY", "length": 498, "header": "tr|X6R8A1-1|PPGB_HUMAN Computationally mapped isoform of Lysosomal protective protein OS=Homo sapiens OX=9606 GN=CTSA PE=1 SV=1 CANONICAL=P10619-1" }, "locus": { "chromosome": "20", "start_pos": 45898447, "end_pos": 45891326, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677394.1", "url": "https://www.ensembl.org/id/ENST00000677394.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504790.1", "url": "https://www.ensembl.org/id/ENSP00000504790.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "evidence": [ { "id": "1477", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1477" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "evidence": [ { "id": "1477", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1477" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "evidence": [ { "id": "1477", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1477" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "evidence": [ { "id": "1477", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1477" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "evidence": [ { "id": "1477", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1477" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 145, "start_aa": "Asn", "end_pos": 145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn145", "evidence": [ { "id": "P10619", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "16263699", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16263699" }, { "id": "1IVY", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1IVY" }, { "id": "4MWS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4MWS" }, { "id": "4MWT", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4MWT" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 153, "start_aa": "Asn", "end_pos": 153, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn153", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 244, "start_aa": "Asn", "end_pos": 244, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn244", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 333, "start_aa": "Asn", "end_pos": 333, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "evidence": [ { "id": "1477", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1477" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 333, "start_aa": "Asn", "end_pos": 333, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "evidence": [ { "id": "1477", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1477" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 333, "start_aa": "Asn", "end_pos": 333, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "evidence": [ { "id": "1477", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1477" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 333, "start_aa": "Asn", "end_pos": 333, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "evidence": [ { "id": "1477", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1477" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 333, "start_aa": "Asn", "end_pos": 333, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "evidence": [ { "id": "1477", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1477" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 333, "start_aa": "Asn", "end_pos": 333, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "evidence": [ { "id": "P10619", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "1IVY", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1IVY" }, { "id": "4MWS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4MWS" }, { "id": "4MWT", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4MWT" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 351, "start_aa": "Asn", "end_pos": 351, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn351", "evidence": [ { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P10619", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10619" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Opposing motor activities of dynein and kinesin determine retention and transport of MHC class II-containing compartments.", "journal": "Journal of cell science", "date": "1999", "authors": "Wubbolts R, Fernandez-Borja M, Jordens I, Reits E, Dusseljee S, Echeverri C, Vallee RB, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10036229", "url": "https://glygen.org/publication/PubMed/10036229" } ] }, { "title": "Identification of destabilizing residues in HLA class II-selected bacteriophage display libraries edited by HLA-DM.", "journal": "European journal of immunology", "date": "1999", "authors": "Raddrizzani L, Bono E, Vogt AB, Kropshofer H, Gallazzi F, Sturniolo T, Hammerling GJ, Sinigaglia F, Hammer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10064083", "url": "https://glygen.org/publication/PubMed/10064083" } ] }, { "title": "Cathepsin S required for normal MHC class II peptide loading and germinal center development.", "journal": "Immunity", "date": "1999", "authors": "Shi GP, Villadangos JA, Dranoff G, Small C, Gu L, Haley KJ, Riese R, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10072072", "url": "https://glygen.org/publication/PubMed/10072072" } ] }, { "title": "Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.", "journal": "Genomics", "date": "1999", "authors": "Monti E, Preti A, Rossi E, Ballabio A, Borsani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10191093", "url": "https://glygen.org/publication/PubMed/10191093" } ] }, { "title": "An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.", "journal": "European journal of human genetics : EJHG", "date": "1999", "authors": "Regis S, Filocamo M, Corsolini F, Caroli F, Keulemans JL, van Diggelen OP, Gatti R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10196694", "url": "https://glygen.org/publication/PubMed/10196694" } ] }, { "title": "Molecular cloning of a novel alpha2,3-sialyltransferase (ST3Gal VI) that sialylates type II lactosamine structures on glycoproteins and glycolipids.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Okajima T, Fukumoto S, Miyazaki H, Ishida H, Kiso M, Furukawa K, Urano T, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10206952", "url": "https://glygen.org/publication/PubMed/10206952" } ] }, { "title": "Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.", "journal": "American journal of human genetics", "date": "1999", "authors": "Seppala R, Lehto VP, Gahl WA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10330343", "url": "https://glygen.org/publication/PubMed/10330343" } ] }, { "title": "UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Keppler OT, Hinderlich S, Langner J, Schwartz-Albiez R, Reutter W, Pawlita M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10334995", "url": "https://glygen.org/publication/PubMed/10334995" } ] }, { "title": "Cloning, expression, and chromosomal mapping of a human ganglioside sialidase.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Wada T, Yoshikawa Y, Tokuyama S, Kuwabara M, Akita H, Miyagi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10405317", "url": "https://glygen.org/publication/PubMed/10405317" } ] }, { "title": "Structural and membrane-binding properties of saposin D.", "journal": "European journal of biochemistry", "date": "1999-07", "authors": "Tatti M, Salvioli R, Ciaffoni F, Pucci P, Andolfo A, Amoresano A, Vaccaro A M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10406958", "url": "https://glygen.org/publication/PubMed/10406958" } ] }, { "title": "Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis.", "journal": "FEBS letters", "date": "1999", "authors": "Lucka L, Krause M, Danker K, Reutter W, Horstkorte R", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10431835", "url": "https://glygen.org/publication/PubMed/10431835" } ] }, { "title": "Direct transport of newly synthesized HLA-DR from the trans-Golgi network to major histocompatibility complex class II containing compartments (MIICS) demonstrated using a novel tyrosine-sulfated chimera.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Davidson HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10480952", "url": "https://glygen.org/publication/PubMed/10480952" } ] }, { "title": "Molecular cloning and expression of Galbeta1,3GalNAc alpha2, 3-sialyltransferase from human fetal liver.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Shang J, Qiu R, Wang J, Liu J, Zhou R, Ding H, Yang S, Zhang S, Jin C", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10504389", "url": "https://glygen.org/publication/PubMed/10504389" } ] }, { "title": "Cloning and expression of a human gene encoding an N-acetylgalactosamine-alpha2,6-sialyltransferase (ST6GalNAc I): a candidate for synthesis of cancer-associated sialyl-Tn antigens.", "journal": "Glycobiology", "date": "1999", "authors": "Ikehara Y, Kojima N, Kurosawa N, Kudo T, Kono M, Nishihara S, Issiki S, Morozumi K, Itzkowitz S, Tsuda T, Nishimura SI, Tsuji S, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10536037", "url": "https://glygen.org/publication/PubMed/10536037" } ] }, { "title": "Cell surface expression and metabolism of major histocompatibility complex class II invariant chain (CD74) by diverse cell lines.", "journal": "Immunology", "date": "1999", "authors": "Ong GL, Goldenberg DM, Hansen HJ, Mattes MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10540230", "url": "https://glygen.org/publication/PubMed/10540230" } ] }, { "title": "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.", "journal": "Nature genetics", "date": "1999", "authors": "Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10581036", "url": "https://glygen.org/publication/PubMed/10581036" } ] }, { "title": "The leucine-based sorting motifs in the cytoplasmic domain of the invariant chain are recognized by the clathrin adaptors AP1 and AP2 and their medium chains.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hofmann MW, Honing S, Rodionov D, Dobberstein B, von Figura K, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10593899", "url": "https://glygen.org/publication/PubMed/10593899" } ] }, { "title": "Proteases involved in MHC class II antigen presentation.", "journal": "Immunological reviews", "date": "1999", "authors": "Villadangos JA, Bryant RA, Deussing J, Driessen C, Lennon-Dumenil AM, Riese RJ, Roth W, Saftig P, Shi GP, Chapman HA, Peters C, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631941", "url": "https://glygen.org/publication/PubMed/10631941" } ] }, { "title": "The impact of the non-classical MHC proteins HLA-DM and HLA-DO on loading of MHC class II molecules.", "journal": "Immunological reviews", "date": "1999", "authors": "Kropshofer H, Hammerling GJ, Vogt AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631952", "url": "https://glygen.org/publication/PubMed/10631952" } ] }, { "title": "Enzymatic reduction of disulfide bonds in lysosomes: characterization of a gamma-interferon-inducible lysosomal thiol reductase (GILT).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Arunachalam B, Phan UT, Geuze HJ, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10639150", "url": "https://glygen.org/publication/PubMed/10639150" } ] }, { "title": "Molecular cloning and functional expression of human ST6GalNAc II. Molecular expression in various human cultured cells.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Samyn-Petit B, Krzewinski-Recchi MA, Steelant WF, Delannoy P, Harduin-Lepers A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10742600", "url": "https://glygen.org/publication/PubMed/10742600" } ] }, { "title": "Role for cathepsin F in invariant chain processing and major histocompatibility complex class II peptide loading by macrophages.", "journal": "The Journal of experimental medicine", "date": "2000", "authors": "Shi GP, Bryant RA, Riese R, Verhelst S, Driessen C, Li Z, Bromme D, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10748235", "url": "https://glygen.org/publication/PubMed/10748235" } ] }, { "title": "Cloning and expression of the human N-acetylneuraminic acid phosphate synthase gene with 2-keto-3-deoxy-D-glycero- D-galacto-nononic acid biosynthetic ability.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lawrence SM, Huddleston KA, Pitts LR, Nguyen N, Lee YC, Vann WF, Coleman TA, Betenbaugh MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10749855", "url": "https://glygen.org/publication/PubMed/10749855" } ] }, { "title": "Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids.", "journal": "FEBS letters", "date": "2000", "authors": "Salvioli R, Tatti M, Ciaffoni F, Vaccaro AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10781797", "url": "https://glygen.org/publication/PubMed/10781797" } ] }, { "title": "Lysosomal cathepsin B plays an important role in antigen processing, while cathepsin D is involved in degradation of the invariant chain inovalbumin-immunized mice.", "journal": "Immunology", "date": "2000", "authors": "Zhang T, Maekawa Y, Hanba J, Dainichi T, Nashed BF, Hisaeda H, Sakai T, Asao T, Himeno K, Good RA, Katunuma N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10809954", "url": "https://glygen.org/publication/PubMed/10809954" } ] }, { "title": "Cloning and characterization of the mammalian brain-specific, Mg2+-dependent neutral sphingomyelinase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Hofmann K, Tomiuk S, Wolff G, Stoffel W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10823942", "url": "https://glygen.org/publication/PubMed/10823942" } ] }, { "title": "Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane.", "journal": "The Biochemical journal", "date": "2000", "authors": "Monti E, Bassi MT, Papini N, Riboni M, Manzoni M, Venerando B, Croci G, Preti A, Ballabio A, Tettamanti G, Borsani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10861246", "url": "https://glygen.org/publication/PubMed/10861246" } ] }, { "title": "Degradation of membrane-bound ganglioside GM1. Stimulation by bis(monoacylglycero)phosphate and the activator proteins SAP-B and GM2-AP.", "journal": "The Journal of biological chemistry", "date": "2000-11-17", "authors": "Wilkening G, Linke T, Uhlhorn-Dierks G, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10942779", "url": "https://glygen.org/publication/PubMed/10942779" } ] }, { "title": "Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.", "journal": "Journal of human genetics", "date": "2000", "authors": "Takiguchi K, Itoh K, Shimmoto M, Ozand PT, Doi H, Sakuraba H", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "reference": [ { "type": "PubMed", "id": "10944848", "url": "https://glygen.org/publication/PubMed/10944848" } ] }, { "title": "The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.", "journal": "American journal of human genetics", "date": "2000", "authors": "Aula N, Salomaki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "10947946", "url": "https://glygen.org/publication/PubMed/10947946" } ] }, { "title": "Human acid ceramidase gene: novel mutations in Farber disease.", "journal": "Molecular genetics and metabolism", "date": "2000", "authors": "Zhang Z, Mandal AK, Mital A, Popescu N, Zimonjic D, Moser A, Moser H, Mukherjee AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10993717", "url": "https://glygen.org/publication/PubMed/10993717" } ] }, { "title": "Cloning, expression and gene organization of a human Neu5Ac alpha 2-3Gal beta 1-3GalNAc alpha 2,6-sialyltransferase: hST6GalNAcIV.", "journal": "The Biochemical journal", "date": "2000", "authors": "Harduin-Lepers A, Stokes DC, Steelant WF, Samyn-Petit B, Krzewinski-Recchi MA, Vallejo-Ruiz V, Zanetta JP, Auge C, Delannoy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11062056", "url": "https://glygen.org/publication/PubMed/11062056" } ] }, { "title": "Unique disulfide bond structures found in ST8Sia IV polysialyltransferase are required for its activity.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Angata K, Yen TY, El-Battari A, Macher BA, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11279095", "url": "https://glygen.org/publication/PubMed/11279095" } ] }, { "title": "Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.", "journal": "Molecular genetics and metabolism", "date": "2001-05", "authors": "Whitfield P D, Sharp P C, Johnson D W, Nelson P, Meikle P J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11350180", "url": "https://glygen.org/publication/PubMed/11350180" } ] }, { "title": "Molecular cloning and expression of human bile acid beta-glucosidase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Matern H, Boermans H, Lottspeich F, Matern S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11489889", "url": "https://glygen.org/publication/PubMed/11489889" } ] }, { "title": "The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.", "journal": "Nature genetics", "date": "2001", "authors": "Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11528398", "url": "https://glygen.org/publication/PubMed/11528398" } ] }, { "title": "Trans-Golgi network sorting.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2001", "authors": "Gu F, Crump CM, Thomas G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11529500", "url": "https://glygen.org/publication/PubMed/11529500" } ] }, { "title": "Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells.", "journal": "Glycoconjugate journal", "date": "2001", "authors": "Lawrence SM, Huddleston KA, Tomiya N, Nguyen N, Lee YC, Vann WF, Coleman TA, Betenbaugh MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11602804", "url": "https://glygen.org/publication/PubMed/11602804" } ] }, { "title": "Presentation of antigens by MHC class II molecules: getting the most out of them.", "journal": "Molecular immunology", "date": "2001", "authors": "Villadangos JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11684289", "url": "https://glygen.org/publication/PubMed/11684289" } ] }, { "title": "Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.", "journal": "Human genetics", "date": "2001", "authors": "Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4341670", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4341670" } ], "reference": [ { "type": "PubMed", "id": "11702224", "url": "https://glygen.org/publication/PubMed/11702224" } ] }, { "title": "Physiological substrates for human lysosomal beta -hexosaminidase S.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Hepbildikler ST, Sandhoff R, Kolzer M, Proia RL, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11707436", "url": "https://glygen.org/publication/PubMed/11707436" } ] }, { "title": "Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2001", "authors": "Fu C, Bardhan S, Cetateanu ND, Wamil BD, Wang Y, Yan HP, Shi E, Carter C, Venkov C, Yakes FM, Page DL, Lloyd RS, Mernaugh RL, Hellerqvist CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11751519", "url": "https://glygen.org/publication/PubMed/11751519" } ] }, { "title": "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides.", "journal": "European journal of biochemistry", "date": "2002", "authors": "Berrin JG, McLauchlan WR, Needs P, Williamson G, Puigserver A, Kroon PA, Juge N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11784319", "url": "https://glygen.org/publication/PubMed/11784319" } ] }, { "title": "Trafficking of MHC class II molecules in the late secretory pathway.", "journal": "Current opinion in immunology", "date": "2002", "authors": "Hiltbold EM, Roche PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11790530", "url": "https://glygen.org/publication/PubMed/11790530" } ] }, { "title": "Specific role for cathepsin S in the generation of antigenic peptides in vivo.", "journal": "European journal of immunology", "date": "2002", "authors": "Pluger EB, Boes M, Alfonso C, Schroter CJ, Kalbacher H, Ploegh HL, Driessen C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11813165", "url": "https://glygen.org/publication/PubMed/11813165" } ] }, { "title": "Multiple roles of the invariant chain in MHC class II function.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Stumptner-Cuvelette P, Benaroch P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11853874", "url": "https://glygen.org/publication/PubMed/11853874" } ] }, { "title": "Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).", "journal": "Journal of human genetics", "date": "2002", "authors": "Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "11916006", "url": "https://glygen.org/publication/PubMed/11916006" } ] }, { "title": "Proteolysis and antigen presentation by MHC class II molecules.", "journal": "Advances in immunology", "date": "2002", "authors": "Bryant PW, Lennon-Dumenil AM, Fiebiger E, Lagaudriere-Gesbert C, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12078484", "url": "https://glygen.org/publication/PubMed/12078484" } ] }, { "title": "Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.", "journal": "Neurology", "date": "2002", "authors": "Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "12177386", "url": "https://glygen.org/publication/PubMed/12177386" } ] }, { "title": "Dendritic cell maturation triggers retrograde MHC class II transport from lysosomes to the plasma membrane.", "journal": "Nature", "date": "2002", "authors": "Chow A, Toomre D, Garrett W, Mellman I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12198549", "url": "https://glygen.org/publication/PubMed/12198549" } ] }, { "title": "Characterization of the second type of human beta-galactoside alpha 2,6-sialyltransferase (ST6Gal II), which sialylates Galbeta 1,4GlcNAc structures on oligosaccharides preferentially. Genomic analysis of human sialyltransferase genes.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Takashima S, Tsuji S, Tsujimoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "12235148", "url": "https://glygen.org/publication/PubMed/12235148" } ] }, { "title": "Study of interaction of GM2 activator protein with GM2 using circular dichroism and fluorescence spectroscopy.", "journal": "Neurochemical research", "date": "2002-08", "authors": "Ravasi Daniela, Masserini Massimo, Vecchio Giuseppe, Li Yu-Teh, Li Su-Chen", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12374214", "url": "https://glygen.org/publication/PubMed/12374214" } ] }, { "title": "An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.", "journal": "Neurology", "date": "2002", "authors": "Broccolini A, Pescatori M, D'Amico A, Sabino A, Silvestri G, Ricci E, Servidei S, Tonali PA, Mirabella M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "12473780", "url": "https://glygen.org/publication/PubMed/12473780" } ] }, { "title": "Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B.", "journal": "Protein expression and purification", "date": "2003-01", "authors": "Ahn Victoria E, Faull Kym F, Whitelegge Julian P, Higginson Jason, Fluharty Arvan L, Priv\u00e9 Gilbert G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12510003", "url": "https://glygen.org/publication/PubMed/12510003" } ] }, { "title": "Crystal structure of saposin B reveals a dimeric shell for lipid binding.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Ahn VE, Faull KF, Whitelegge JP, Fluharty AL, Prive GG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12518053", "url": "https://glygen.org/publication/PubMed/12518053" } ] }, { "title": "Biochemical properties of mammalian neutral sphingomyelinase 2 and its role in sphingolipid metabolism.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Marchesini N, Luberto C, Hannun YA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12566438", "url": "https://glygen.org/publication/PubMed/12566438" } ] }, { "title": "Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans.", "journal": "European journal of nutrition", "date": "2003", "authors": "Nemeth K, Plumb GW, Berrin JG, Juge N, Jacob R, Naim HY, Williamson G, Swallow DM, Kroon PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12594539", "url": "https://glygen.org/publication/PubMed/12594539" } ] }, { "title": "Identification and functional expression of a second human beta-galactoside alpha2,6-sialyltransferase, ST6Gal II.", "journal": "European journal of biochemistry", "date": "2003", "authors": "Krzewinski-Recchi MA, Julien S, Juliant S, Teintenier-Lelievre M, Samyn-Petit B, Montiel MD, Mir AM, Cerutti M, Harduin-Lepers A, Delannoy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "12603328", "url": "https://glygen.org/publication/PubMed/12603328" } ] }, { "title": "Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12662933", "url": "https://glygen.org/publication/PubMed/12662933" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nat. Biotechnol.", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Synthesis of disialyl Lewis a (Le(a)) structure in colon cancer cell lines by a sialyltransferase, ST6GalNAc VI, responsible for the synthesis of alpha-series gangliosides.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Tsuchida A, Okajima T, Furukawa K, Ando T, Ishida H, Yoshida A, Nakamura Y, Kannagi R, Kiso M, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "12668675", "url": "https://glygen.org/publication/PubMed/12668675" } ] }, { "title": "Antigen processing and presentation in human muscle: cathepsin S is critical for MHC class II expression and upregulated in inflammatory myopathies.", "journal": "Journal of neuroimmunology", "date": "2003", "authors": "Wiendl H, Lautwein A, Mitsdorffer M, Krause S, Erfurth S, Wienhold W, Morgalla M, Weber E, Overkleeft HS, Lochmuller H, Melms A, Tolosa E, Driessen C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12742663", "url": "https://glygen.org/publication/PubMed/12742663" } ] }, { "title": "Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.", "journal": "Neurology", "date": "2003", "authors": "Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D, Mitrani-Rosenbaum S", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "12743242", "url": "https://glygen.org/publication/PubMed/12743242" } ] }, { "title": "Human cathepsin S, but not cathepsin L, degrades efficiently MHC class II-associated invariant chain in nonprofessional APCs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Bania J, Gatti E, Lelouard H, David A, Cappello F, Weber E, Camosseto V, Pierre P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12748383", "url": "https://glygen.org/publication/PubMed/12748383" } ] }, { "title": "Identification of human intestinal alkaline sphingomyelinase as a novel ecto-enzyme related to the nucleotide phosphodiesterase family.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Duan RD, Bergman T, Xu N, Wu J, Cheng Y, Duan J, Nelander S, Palmberg C, Nilsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12885774", "url": "https://glygen.org/publication/PubMed/12885774" } ] }, { "title": "Crystal structure of a covalent intermediate of endogenous human arylsulfatase A.", "journal": "Journal of inorganic biochemistry", "date": "2003", "authors": "Chruszcz M, Laidler P, Monkiewicz M, Ortlund E, Lebioda L, Lewinski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12888274", "url": "https://glygen.org/publication/PubMed/12888274" } ] }, { "title": "Structural analysis of lipid complexes of GM2-activator protein.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Wright CS, Zhao Q, Rastinejad F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12909021", "url": "https://glygen.org/publication/PubMed/12909021" } ] }, { "title": "In vitro mutagenesis of potential N-glycosylation sites of arylsulfatase A. Effects on glycosylation, phosphorylation, and intracellular sorting.", "journal": "The Journal of biological chemistry", "date": "1992-07-05", "authors": "Gieselmann V, Schmidt B, von Figura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1352293", "url": "https://glygen.org/publication/PubMed/1352293" } ] }, { "title": "Proteolytic processing of human lysosomal arylsulfatase A.", "journal": "Biochimica et biophysica acta", "date": "1992", "authors": "Fujii T, Kobayashi T, Honke K, Gasa S, Ishikawa M, Shimizu T, Makita A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1352993", "url": "https://glygen.org/publication/PubMed/1352993" } ] }, { "title": "Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.", "journal": "Human mutation", "date": "2004", "authors": "Pattison S, Pankarican M, Rupar CA, Graham FL, Igdoura SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4341670", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4341670" } ], "reference": [ { "type": "PubMed", "id": "14695530", "url": "https://glygen.org/publication/PubMed/14695530" } ] }, { "title": "Targeting of membrane proteins to endosomes and lysosomes.", "journal": "Trends in cell biology", "date": "1994", "authors": "Sandoval IV, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "14731593", "url": "https://glygen.org/publication/PubMed/14731593" } ] }, { "title": "Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family.", "journal": "Genomics", "date": "2004", "authors": "Monti E, Bassi MT, Bresciani R, Civini S, Croci GL, Papini N, Riboni M, Zanchetti G, Ballabio A, Preti A, Tettamanti G, Venerando B, Borsani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "14962670", "url": "https://glygen.org/publication/PubMed/14962670" } ] }, { "title": "The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Garman SC, Garboczi DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15003450", "url": "https://glygen.org/publication/PubMed/15003450" } ] }, { "title": "Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.", "journal": "Neurology", "date": "2004", "authors": "Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "15136692", "url": "https://glygen.org/publication/PubMed/15136692" } ] }, { "title": "Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Seyrantepe V, Landry K, Trudel S, Hassan JA, Morales CR, Pshezhetsky AV", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15213228", "url": "https://glygen.org/publication/PubMed/15213228" } ] }, { "title": "Functional studies of human intestinal alkaline sphingomyelinase by deglycosylation and mutagenesis.", "journal": "The Biochemical journal", "date": "2005", "authors": "Wu J, Hansen GH, Nilsson A, Duan RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15458386", "url": "https://glygen.org/publication/PubMed/15458386" } ] }, { "title": "Crystal structure of the human cytosolic sialidase Neu2. Evidence for the dynamic nature of substrate recognition.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Chavas LM, Tringali C, Fusi P, Venerando B, Tettamanti G, Kato R, Monti E, Wakatsuki S", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "15501818", "url": "https://glygen.org/publication/PubMed/15501818" } ] }, { "title": "Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.", "journal": "Blood", "date": "2005", "authors": "Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "15576474", "url": "https://glygen.org/publication/PubMed/15576474" } ] }, { "title": "Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.", "journal": "Human mutation", "date": "2005", "authors": "Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15714521", "url": "https://glygen.org/publication/PubMed/15714521" } ] }, { "title": "AP2 clathrin adaptor complex, but not AP1, controls the access of the major histocompatibility complex (MHC) class II to endosomes.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Dugast M, Toussaint H, Dousset C, Benaroch P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "15749704", "url": "https://glygen.org/publication/PubMed/15749704" } ] }, { "title": "A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.", "journal": "Molecular genetics and metabolism", "date": "2005", "authors": "Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15773042", "url": "https://glygen.org/publication/PubMed/15773042" } ] }, { "title": "Subcellular localization of human neutral ceramidase expressed in HEK293 cells.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Hwang YH, Tani M, Nakagawa T, Okino N, Ito M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15845354", "url": "https://glygen.org/publication/PubMed/15845354" } ] }, { "title": "Involvement of clathrin and AP-2 in the trafficking of MHC class II molecules to antigen-processing compartments.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "McCormick PJ, Martina JA, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "15911768", "url": "https://glygen.org/publication/PubMed/15911768" } ] }, { "title": "A novel splice variant of human gene NPL, mainly expressed in human liver, kidney and peripheral blood leukocyte.", "journal": "DNA sequence : the journal of DNA sequencing and mapping", "date": "2005", "authors": "Wu M, Gu S, Xu J, Zou X, Zheng H, Jin Z, Xie Y, Ji C, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "16147865", "url": "https://glygen.org/publication/PubMed/16147865" } ] }, { "title": "Asparaginyl endopeptidase: case history of a class II MHC compartment protease.", "journal": "Immunological reviews", "date": "2005", "authors": "Watts C, Matthews SP, Mazzeo D, Manoury B, Moss CX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16181339", "url": "https://glygen.org/publication/PubMed/16181339" } ] }, { "title": "Identification of a novel amidase motif in neutral ceramidase.", "journal": "The Biochemical journal", "date": "2006", "authors": "Galadari S, Wu BX, Mao C, Roddy P, El Bawab S, Hannun YA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "16229686", "url": "https://glygen.org/publication/PubMed/16229686" } ] }, { "title": "Lipid-binding proteins in membrane digestion, antigen presentation, and antimicrobial defense.", "journal": "The Journal of biological chemistry", "date": "2005-12-16", "authors": "Kolter Thomas, Winau Florian, Schaible Ulrich E, Leippe Matthias, Sandhoff Konrad", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "16230343", "url": "https://glygen.org/publication/PubMed/16230343" } ] }, { "title": "Identification of the sequence encoding N-acetylneuraminate-9-phosphate phosphatase.", "journal": "Glycobiology", "date": "2006", "authors": "Maliekal P, Vertommen D, Delpierre G, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "16237198", "url": "https://glygen.org/publication/PubMed/16237198" } ] }, { "title": "Assembly of major histocompatibility complex class II subunits with invariant chain.", "journal": "FEBS letters", "date": "2005", "authors": "Neumann J, Koch N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16242130", "url": "https://glygen.org/publication/PubMed/16242130" } ] }, { "title": "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.", "journal": "Molecular & cellular proteomics : MCP", "date": "2006", "authors": "Lewandrowski U, Moebius J, Walter U, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619#ptm_processing" }, { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "reference": [ { "type": "PubMed", "id": "16263699", "url": "https://glygen.org/publication/PubMed/16263699" } ] }, { "title": "Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders.", "journal": "Human genetics", "date": "1992-07", "authors": "Schmid B, Paton B C, Sandhoff K, Harzer K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1634229", "url": "https://glygen.org/publication/PubMed/1634229" } ] }, { "title": "The enzyme-binding region of human GM2-activator protein.", "journal": "The FEBS journal", "date": "2006-03", "authors": "Wendeler Michaela, Werth Norbert, Maier Timm, Schwarzmann Guenter, Kolter Thomas, Schoeniger Maike, Hoffmann Daniel, Lemm Thorsten, Saenger Wolfram, Sandhoff Konrad", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "16478472", "url": "https://glygen.org/publication/PubMed/16478472" } ] }, { "title": "Novel tumor necrosis factor-responsive mammalian neutral sphingomyelinase-3 is a C-tail-anchored protein.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Krut O, Wiegmann K, Kashkar H, Yazdanpanah B, Kronke M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "16517606", "url": "https://glygen.org/publication/PubMed/16517606" } ] }, { "title": "Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.", "journal": "Human genomics", "date": "2006", "authors": "Shabbeer J, Yasuda M, Benson SD, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "16595074", "url": "https://glygen.org/publication/PubMed/16595074" } ] }, { "title": "Invariant chain transmembrane domain trimerization: a step in MHC class II assembly.", "journal": "Biochemistry", "date": "2006", "authors": "Dixon AM, Stanley BJ, Matthews EE, Dawson JP, Engelman DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16618111", "url": "https://glygen.org/publication/PubMed/16618111" } ] }, { "title": "Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Lemieux MJ, Mark BL, Cherney MM, Withers SG, Mahuran DJ, James MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "16698036", "url": "https://glygen.org/publication/PubMed/16698036" } ] }, { "title": "Molecular basis of different forms of metachromatic leukodystrophy.", "journal": "The New England journal of medicine", "date": "1991", "authors": "Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1670590", "url": "https://glygen.org/publication/PubMed/1670590" } ] }, { "title": "Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.", "journal": "American journal of human genetics", "date": "1991", "authors": "Gieselmann V, Fluharty AL, Tonnesen T, Von Figura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1678251", "url": "https://glygen.org/publication/PubMed/1678251" } ] }, { "title": "The formation of TGN-to-plasma-membrane transport carriers.", "journal": "Annual review of cell and developmental biology", "date": "2006", "authors": "Bard F, Malhotra V", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16824007", "url": "https://glygen.org/publication/PubMed/16824007" } ] }, { "title": "A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal 'protective protein'.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Jackman H L, Tan F L, Tamei H, Beurling-Harbury C, Li X Y, Skidgel R A, Erd\u00f6s E G", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "reference": [ { "type": "PubMed", "id": "1694176", "url": "https://glygen.org/publication/PubMed/1694176" } ] }, { "title": "Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Boot RG, Verhoek M, Donker-Koopman W, Strijland A, van Marle J, Overkleeft HS, Wennekes T, Aerts JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "17105727", "url": "https://glygen.org/publication/PubMed/17105727" } ] }, { "title": "Identification and expression of a sialyltransferase responsible for the synthesis of disialylgalactosylgloboside in normal and malignant kidney cells: downregulation of ST6GalNAc VI in renal cancers.", "journal": "The Biochemical journal", "date": "2007", "authors": "Senda M, Ito A, Tsuchida A, Hagiwara T, Kaneda T, Nakamura Y, Kasama K, Kiso M, Yoshikawa K, Katagiri Y, Ono Y, Ogiso M, Urano T, Furukawa K, Oshima S, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "17123352", "url": "https://glygen.org/publication/PubMed/17123352" } ] }, { "title": "Functional requirements for the lysosomal thiol reductase GILT in MHC class II-restricted antigen processing.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2006", "authors": "Hastings KT, Lackman RL, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "17142755", "url": "https://glygen.org/publication/PubMed/17142755" } ] }, { "title": "Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Ferlinz K, Hurwitz R, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1718266", "url": "https://glygen.org/publication/PubMed/1718266" } ] }, { "title": "Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Banerjee P, Siciliano L, Oliveri D, McCabe NR, Boyers MJ, Horwitz AL, Li SC, Dawson G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1720305", "url": "https://glygen.org/publication/PubMed/1720305" } ] }, { "title": "Activation of endosomal dynein motors by stepwise assembly of Rab7-RILP-p150Glued, ORP1L, and the receptor betalll spectrin.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Johansson M, Rocha N, Zwart W, Jordens I, Janssen L, Kuijl C, Olkkonen VM, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "17283181", "url": "https://glygen.org/publication/PubMed/17283181" } ] }, { "title": "Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).", "journal": "Genomics", "date": "1992", "authors": "Schuchman EH, Levran O, Pereira LV, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1740330", "url": "https://glygen.org/publication/PubMed/1740330" } ] }, { "title": "A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.", "journal": "The EMBO journal", "date": "1991", "authors": "Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H, d'Azzo A", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" }, { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" }, { "database": "dbSNP", "id": "rs137854548", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137854548" } ], "reference": [ { "type": "PubMed", "id": "1756715", "url": "https://glygen.org/publication/PubMed/1756715" } ] }, { "title": "MHC class II molecules on the move for successful antigen presentation.", "journal": "The EMBO journal", "date": "2008", "authors": "Rocha N, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "18046453", "url": "https://glygen.org/publication/PubMed/18046453" } ] }, { "title": "Lysosomal cysteine and aspartic proteases are heterogeneously expressed and act redundantly to initiate human invariant chain degradation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2008", "authors": "Costantino CM, Hang HC, Kent SC, Hafler DA, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "18292509", "url": "https://glygen.org/publication/PubMed/18292509" } ] }, { "title": "Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1840600", "url": "https://glygen.org/publication/PubMed/1840600" } ] }, { "title": "GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.", "journal": "Molecular genetics and metabolism", "date": "2008-08", "authors": "Brunetti-Pierri Nicola, Scaglia Fernando", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "18524657", "url": "https://glygen.org/publication/PubMed/18524657" } ] }, { "title": "Plasma membrane-associated sialidase as a crucial regulator of transmembrane signalling.", "journal": "Journal of biochemistry", "date": "2008", "authors": "Miyagi T, Wada T, Yamaguchi K, Hata K, Shiozaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "18632803", "url": "https://glygen.org/publication/PubMed/18632803" } ] }, { "title": "Glycosphingolipid specificity of the human sulfatide activator protein.", "journal": "European journal of biochemistry", "date": "1991-09-01", "authors": "Vogel A, Schwarzmann G, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1889421", "url": "https://glygen.org/publication/PubMed/1889421" } ] }, { "title": "Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Galjart NJ, Morreau H, Willemsen R, Gillemans N, Bonten EJ, d'Azzo A", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "reference": [ { "type": "PubMed", "id": "1907282", "url": "https://glygen.org/publication/PubMed/1907282" } ] }, { "title": "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.", "journal": "American journal of human genetics", "date": "1991", "authors": "Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1907800", "url": "https://glygen.org/publication/PubMed/1907800" } ] }, { "title": "A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.", "journal": "FEBS letters", "date": "1991", "authors": "Schroder M, Schnabel D, Suzuki K, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1915858", "url": "https://glygen.org/publication/PubMed/1915858" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619#ptm_processing" }, { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.", "journal": "Human mutation", "date": "2009", "authors": "Rodriguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "19405096", "url": "https://glygen.org/publication/PubMed/19405096" } ] }, { "title": "Formation of a nine-subunit complex by HLA class II glycoproteins and the invariant chain.", "journal": "Nature", "date": "1991", "authors": "Roche PA, Marks MS, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "1956401", "url": "https://glygen.org/publication/PubMed/1956401" } ] }, { "title": "Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150 Glued and late endosome positioning.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Rocha N, Kuijl C, van der Kant R, Janssen L, Houben D, Janssen H, Zwart W, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "19564404", "url": "https://glygen.org/publication/PubMed/19564404" } ] }, { "title": "Human sialidase NEU4 long and short are extrinsic proteins bound to outer mitochondrial membrane and the endoplasmic reticulum, respectively.", "journal": "Glycobiology", "date": "2010", "authors": "Bigi A, Morosi L, Pozzi C, Forcella M, Tettamanti G, Venerando B, Monti E, Fusi P", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "19797320", "url": "https://glygen.org/publication/PubMed/19797320" } ] }, { "title": "Lysosomal degradation of membrane lipids.", "journal": "FEBS letters", "date": "2010-05-03", "authors": "Kolter Thomas, Sandhoff Konrad", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "19836391", "url": "https://glygen.org/publication/PubMed/19836391" } ] }, { "title": "Saposin proteins: structure, function, and role in human lysosomal storage disorders.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "1991-03-01", "authors": "O'Brien J S, Kishimoto Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "2001789", "url": "https://glygen.org/publication/PubMed/2001789" } ] }, { "title": "The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation.", "journal": "Blood cells, molecules & diseases", "date": "2011", "authors": "Dekker N, Voorn-Brouwer T, Verhoek M, Wennekes T, Narayan RS, Speijer D, Hollak CE, Overkleeft HS, Boot RG, Aerts JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "20728381", "url": "https://glygen.org/publication/PubMed/20728381" } ] }, { "title": "Universal phosphatase-coupled glycosyltransferase assay.", "journal": "Glycobiology", "date": "2011", "authors": "Wu ZL, Ethen CM, Prather B, Machacek M, Jiang W", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "21081508", "url": "https://glygen.org/publication/PubMed/21081508" } ] }, { "title": "Invariant chain increases the half-life of MHC II by delaying endosomal maturation.", "journal": "Immunology and cell biology", "date": "2011", "authors": "Landsverk OJ, Barois N, Gregers TF, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "21116285", "url": "https://glygen.org/publication/PubMed/21116285" } ] }, { "title": "MHC class II-associated invariant chain contains a sorting signal for endosomal compartments.", "journal": "Cell", "date": "1990", "authors": "Bakke O, Dobberstein B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "2121367", "url": "https://glygen.org/publication/PubMed/2121367" } ] }, { "title": "MHC class II engagement by its ligand LAG-3 (CD223) contributes to melanoma resistance to apoptosis.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2011", "authors": "Hemon P, Jean-Louis F, Ramgolam K, Brignone C, Viguier M, Bachelez H, Triebel F, Charron D, Aoudjit F, Al-Daccak R, Michel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "21441454", "url": "https://glygen.org/publication/PubMed/21441454" } ] }, { "title": "Invariant chain association with HLA-DR molecules inhibits immunogenic peptide binding.", "journal": "Nature", "date": "1990", "authors": "Roche PA, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "2190094", "url": "https://glygen.org/publication/PubMed/2190094" } ] }, { "title": "Metabolism of vertebrate amino sugars with N-glycolyl groups: elucidating the intracellular fate of the non-human sialic acid N-glycolylneuraminic acid.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Bergfeld AK, Pearce OM, Diaz SL, Pham T, Varki A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "22692205", "url": "https://glygen.org/publication/PubMed/22692205" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Comparison of the cerebroside sulphatase and the arylsulphatase activity of human sulphatase A in the absence of activators.", "journal": "Biochimica et biophysica acta", "date": "1975-01-23", "authors": "Stinshoff K, Jatzkewitz H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "235289", "url": "https://glygen.org/publication/PubMed/235289" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Invariant chain trimers are sequestered in the rough endoplasmic reticulum in the absence of association with HLA class II antigens.", "journal": "The Journal of cell biology", "date": "1990", "authors": "Marks MS, Blum JS, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "2391366", "url": "https://glygen.org/publication/PubMed/2391366" } ] }, { "title": "The activator of cerebroside sulphatase. Purification from human liver and identification as a protein.", "journal": "Hoppe-Seyler's Zeitschrift fur physiologische Chemie", "date": "1975-05", "authors": "Fischer G, Jatzkewitz H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "239890", "url": "https://glygen.org/publication/PubMed/239890" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Cloning and expression of human arylsulfatase A.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Stein C, Gieselmann V, Kreysing J, Schmidt B, Pohlmann R, Waheed A, Meyer HE, O'Brien JS, von Figura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "2562955", "url": "https://glygen.org/publication/PubMed/2562955" } ] }, { "title": "Saposin A: second cerebrosidase activator protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989-05", "authors": "Morimoto S, Martin B M, Yamamoto Y, Kretz K A, O'Brien J S, Kishimoto Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "2717620", "url": "https://glygen.org/publication/PubMed/2717620" } ] }, { "title": "Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal \u03b2-glucocerebrosidase.", "journal": "Journal of lipid research", "date": "2017-03", "authors": "Abdul-Hammed Misbaudeen, Breiden Bernadette, Schwarzmann G\u00fcnter, Sandhoff Konrad", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "28126847", "url": "https://glygen.org/publication/PubMed/28126847" } ] }, { "title": "A Comparative Study of Human Saposins.", "journal": "Molecules (Basel, Switzerland)", "date": "2018-02-14", "authors": "Garrido-Arandia Mar\u00eda, Cuevas-Zuvir\u00eda Bruno, D\u00edaz-Perales Araceli, Pacios Luis F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "29443946", "url": "https://glygen.org/publication/PubMed/29443946" } ] }, { "title": "Mr 46,000 mannose 6-phosphate specific receptor: its role in targeting of lysosomal enzymes.", "journal": "The EMBO journal", "date": "1987-09", "authors": "Stein M, Zijderhand-Bleekemolen J E, Geuze H, Hasilik A, von Figura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "2960521", "url": "https://glygen.org/publication/PubMed/2960521" } ] }, { "title": "Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Mahuran DJ, Neote K, Klavins MH, Leung A, Gravel RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "2965147", "url": "https://glygen.org/publication/PubMed/2965147" } ] }, { "title": "Structural basis for the activation of acid ceramidase.", "journal": "Nature communications", "date": "2018", "authors": "Gebai A, Gorelik A, Li Z, Illes K, Nagar B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "29692406", "url": "https://glygen.org/publication/PubMed/29692406" } ] }, { "title": "A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.", "journal": "Journal of neurochemistry", "date": "1988", "authors": "Nakano T, Muscillo M, Ohno K, Hoffman AJ, Suzuki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "2970528", "url": "https://glygen.org/publication/PubMed/2970528" } ] }, { "title": "Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.", "journal": "Biochemistry", "date": "1988", "authors": "O'Dowd BF, Cumming DA, Gravel RA, Mahuran D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "2971395", "url": "https://glygen.org/publication/PubMed/2971395" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P10619", "url": "" }, { "database": "GlyConnect", "id": "1477", "url": "https://glyconnect.expasy.org/browser/proteins/1477" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Ganglioside Metabolism in Health and Disease.", "journal": "Progress in molecular biology and translational science", "date": "2018", "authors": "Sandhoff Roger, Schulze Heike, Sandhoff Konrad", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "29747811", "url": "https://glygen.org/publication/PubMed/29747811" } ] }, { "title": "Purification and characterization of beta-N-acetylhexosaminidase I from human placenta.", "journal": "Journal of biochemistry", "date": "1988-11", "authors": "Kinoshita K, Taniguchi N, Makita A, Narita M, Oikawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "2976757", "url": "https://glygen.org/publication/PubMed/2976757" } ] }, { "title": "Emerging concepts of ganglioside metabolism.", "journal": "FEBS letters", "date": "2018-12", "authors": "Sandhoff Roger, Sandhoff Konrad", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "29802621", "url": "https://glygen.org/publication/PubMed/29802621" } ] }, { "title": "Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Bishop DF, Calhoun DH, Bernstein HS, Hantzopoulos P, Quinn M, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "3014515", "url": "https://glygen.org/publication/PubMed/3014515" } ] }, { "title": "The precursor of sulfatide activator protein is processed to three different proteins.", "journal": "Biological chemistry Hoppe-Seyler", "date": "1988-05", "authors": "F\u00fcrst W, Machleidt W, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "3048308", "url": "https://glygen.org/publication/PubMed/3048308" } ] }, { "title": "Expression of cDNA encoding the human 'protective protein' associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases.", "journal": "Cell", "date": "1988", "authors": "Galjart NJ, Gillemans N, Harris A, van der Horst GT, Verheijen FW, Galjaard H, d'Azzo A", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" }, { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "3136930", "url": "https://glygen.org/publication/PubMed/3136930" } ] }, { "title": "Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.", "journal": "American journal of human genetics", "date": "2019", "authors": "Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "31495489", "url": "https://glygen.org/publication/PubMed/31495489" } ] }, { "title": "Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.", "journal": "The Journal of biological chemistry", "date": "1985-06-25", "authors": "Kytzia H J, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "3158659", "url": "https://glygen.org/publication/PubMed/3158659" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10619", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10619" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Dinur T, Osiecki KM, Legler G, Gatt S, Desnick RJ, Grabowski GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "3456607", "url": "https://glygen.org/publication/PubMed/3456607" } ] }, { "title": "Enhanced carboxypeptidase efficacies and differentiation of peptide epimers.", "journal": "Analytical biochemistry", "date": "2022", "authors": "Sung YS, Putman J, Du S, Armstrong DW", "evidence": [ { "database": "RefSeq", "id": "NP_000299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299" } ], "reference": [ { "type": "PubMed", "id": "34774536", "url": "https://glygen.org/publication/PubMed/34774536" } ] }, { "title": "Identification of the prognostic, diagnostic, and biological significance of the miR-148a-3p/cathepsin A axis in hepatocellular carcinoma.", "journal": "Journal of biochemical and molecular toxicology", "date": "2022-12", "authors": "Zhao Xiulei, Chai Wei, Wang Tiegong, Chen Xiongfei, Zhang Lei, Li Fengshan, Liu Ruhai", "evidence": [ { "database": "RefSeq", "id": "NP_000299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299" } ], "reference": [ { "type": "PubMed", "id": "36065643", "url": "https://glygen.org/publication/PubMed/36065643" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10619", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10619" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Combining WGCNA and machine learning to construct basement membrane-related gene index helps to predict the prognosis and tumor microenvironment of HCC patients and verifies the carcinogenesis of key gene CTSA.", "journal": "Frontiers in immunology", "date": "2023", "authors": "Sun Weijie, Wang Jue, Wang Zhiqiang, Xu Ming, Lin Quanjun, Sun Peng, Yuan Yihang", "evidence": [ { "database": "RefSeq", "id": "NP_000299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299" } ], "reference": [ { "type": "PubMed", "id": "37287981", "url": "https://glygen.org/publication/PubMed/37287981" } ] }, { "title": "Proteomics analysis of serum and urine identifies VCP and CTSA as potential biomarkers associated with multiple myeloma.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "2024-01-01", "authors": "Fu Wenxuan, Song Yichuan, Zhao Rui, Zhao Jing, Yue Yuhong, Zhang Rui", "evidence": [ { "database": "RefSeq", "id": "NP_000299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000299" } ], "reference": [ { "type": "PubMed", "id": "38081446", "url": "https://glygen.org/publication/PubMed/38081446" } ] }, { "title": "Studies on human liver alpha-galactosidases. I. Purification of alpha-galactosidase A and its enzymatic properties with glycolipid and oligosaccharide substrates.", "journal": "The Journal of biological chemistry", "date": "1979-10-25", "authors": "Dean K J, Sweeley C C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "39940", "url": "https://glygen.org/publication/PubMed/39940" } ] }, { "title": "Enzyme alterations and lipid storage in three variants of Tay-Sachs disease.", "journal": "Journal of neurochemistry", "date": "1971-12", "authors": "Sandhoff K, Harzer K, W\u00e4ssle W, Jatzkewitz H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "5135907", "url": "https://glygen.org/publication/PubMed/5135907" } ] }, { "title": "Human urinary sulfatides in patients with sulfatidosis (metachromatic leukodystrophy).", "journal": "Journal of lipid research", "date": "1971-07", "authors": "Philippart M, Sarlieve L, Meurant C, Mechler L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "5164093", "url": "https://glygen.org/publication/PubMed/5164093" } ] }, { "title": "Purification and characterization of an activator protein for the degradation of glycolipids GM2 and GA2 by hexosaminidase A.", "journal": "Hoppe-Seyler's Zeitschrift fur physiologische Chemie", "date": "1979", "authors": "Conzelmann E, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "527942", "url": "https://glygen.org/publication/PubMed/527942" } ] }, { "title": "Human small-intestinal beta-galactosidases. Separation and characterization of one lactase and one hetero beta-galactosidase.", "journal": "The Biochemical journal", "date": "1969", "authors": "Asp NG, Dahlqvist A, Koldovsky O", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "5822067", "url": "https://glygen.org/publication/PubMed/5822067" } ] }, { "title": "Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.", "journal": "Journal of the neurological sciences", "date": "1981", "authors": "Nonaka I, Sunohara N, Ishiura S, Satoyoshi E", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "7252518", "url": "https://glygen.org/publication/PubMed/7252518" } ] }, { "title": "Self-release of CLIP in peptide loading of HLA-DR molecules.", "journal": "Science (New York, N.Y.)", "date": "1995", "authors": "Kropshofer H, Vogt AB, Stern LJ, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7481823", "url": "https://glygen.org/publication/PubMed/7481823" } ] }, { "title": "Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.", "journal": "American journal of human genetics", "date": "1993", "authors": "Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "7504405", "url": "https://glygen.org/publication/PubMed/7504405" } ] }, { "title": "A human STX cDNA confers polysialic acid expression in mammalian cells.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Scheidegger EP, Sternberg LR, Roth J, Lowe JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "7559389", "url": "https://glygen.org/publication/PubMed/7559389" } ] }, { "title": "Structure-activity relationship of the leucine-based sorting motifs in the cytosolic tail of the major histocompatibility complex-associated invariant chain.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Motta A, Bremnes B, Morelli MA, Frank RW, Saviano G, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7592972", "url": "https://glygen.org/publication/PubMed/7592972" } ] }, { "title": "A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.", "journal": "Cell", "date": "1995", "authors": "Schmidt B, Selmer T, Ingendoh A, von Figura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "7628016", "url": "https://glygen.org/publication/PubMed/7628016" } ] }, { "title": "A role for acidic residues in di-leucine motif-based targeting to the endocytic pathway.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Pond L, Kuhn LA, Teyton L, Schutze MP, Tainer JA, Jackson MR, Peterson PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7650016", "url": "https://glygen.org/publication/PubMed/7650016" } ] }, { "title": "Structural features of the invariant chain fragment CLIP controlling rapid release from HLA-DR molecules and inhibition of peptide binding.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Kropshofer H, Vogt AB, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7667286", "url": "https://glygen.org/publication/PubMed/7667286" } ] }, { "title": "Structural analysis of saposin C and B. Complete localization of disulfide bridges.", "journal": "The Journal of biological chemistry", "date": "1995-04-28", "authors": "Vaccaro A M, Salvioli R, Barca A, Tatti M, Ciaffoni F, Maras B, Siciliano R, Zappacosta F, Amoresano A, Pucci P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "7730378", "url": "https://glygen.org/publication/PubMed/7730378" } ] }, { "title": "Purification, characterization, and biosynthesis of human acid ceramidase.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Bernardo K, Hurwitz R, Zenk T, Desnick RJ, Ferlinz K, Schuchman EH, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "7744740", "url": "https://glygen.org/publication/PubMed/7744740" } ] }, { "title": "Purification and characterization of galactocerebrosidase from human lymphocytes.", "journal": "Journal of biochemistry", "date": "1994", "authors": "Sakai N, Inui K, Midorikawa M, Okuno Y, Ueda S, Iwamatsu A, Okada S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "7852280", "url": "https://glygen.org/publication/PubMed/7852280" } ] }, { "title": "Selective release of some invariant chain-derived peptides from HLA-DR1 molecules at endosomal pH.", "journal": "The Journal of experimental medicine", "date": "1994", "authors": "Urban RG, Chicz RM, Strominger JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8046351", "url": "https://glygen.org/publication/PubMed/8046351" } ] }, { "title": "Endosomal aspartic proteinases are required for invariant-chain processing.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Maric MA, Taylor MD, Blum JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8134367", "url": "https://glygen.org/publication/PubMed/8134367" } ] }, { "title": "Crystal structure of the human class II MHC protein HLA-DR1 complexed with an influenza virus peptide.", "journal": "Nature", "date": "1994", "authors": "Stern LJ, Brown JH, Jardetzky TS, Gorga JC, Urban RG, Strominger JL, Wiley DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8145819", "url": "https://glygen.org/publication/PubMed/8145819" } ] }, { "title": "Class II histocompatibility molecules associate with calnexin during assembly in the endoplasmic reticulum.", "journal": "International immunology", "date": "1994", "authors": "Schreiber KL, Bell MP, Huntoon CJ, Rajagopalan S, Brenner MB, McKean DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8148318", "url": "https://glygen.org/publication/PubMed/8148318" } ] }, { "title": "Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.", "journal": "Human molecular genetics", "date": "1993-11", "authors": "Chen Y Q, Rafi M A, de Gala G, Wenger D A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8281145", "url": "https://glygen.org/publication/PubMed/8281145" } ] }, { "title": "A role for calnexin (IP90) in the assembly of class II MHC molecules.", "journal": "The EMBO journal", "date": "1994", "authors": "Anderson KS, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8313912", "url": "https://glygen.org/publication/PubMed/8313912" } ] }, { "title": "Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Kitagawa H, Paulson JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "8333853", "url": "https://glygen.org/publication/PubMed/8333853" } ] }, { "title": "Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease.", "journal": "Human genetics", "date": "1993-09", "authors": "Bradov\u00e1 V, Sm\u00edd F, Ulrich-Bott B, Roggendorf W, Paton B C, Harzer K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8370580", "url": "https://glygen.org/publication/PubMed/8370580" } ] }, { "title": "Cell surface HLA-DR-invariant chain complexes are targeted to endosomes by rapid internalization.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Roche PA, Teletski CL, Stang E, Bakke O, Long EO", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8397411", "url": "https://glygen.org/publication/PubMed/8397411" } ] }, { "title": "Galactocerebrosidase from human urine: purification and partial characterization.", "journal": "Biochimica et biophysica acta", "date": "1993-09-29", "authors": "Chen Y Q, Wenger D A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8399327", "url": "https://glygen.org/publication/PubMed/8399327" } ] }, { "title": "The segment of invariant chain that is critical for association with major histocompatibility complex class II molecules contains the sequence of a peptide eluted from class II polypeptides.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Freisewinkel IM, Schenck K, Koch N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8415765", "url": "https://glygen.org/publication/PubMed/8415765" } ] }, { "title": "Protective protein gene mutations in galactosialidosis.", "journal": "The Journal of clinical investigation", "date": "1993", "authors": "Shimmoto M, Fukuhara Y, Itoh K, Oshima A, Sakuraba H, Suzuki Y", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "reference": [ { "type": "PubMed", "id": "8514852", "url": "https://glygen.org/publication/PubMed/8514852" } ] }, { "title": "Molecular role of sulfated glycoprotein-1 (SGP-1/prosaposin) in Sertoli cells.", "journal": "Histology and histopathology", "date": "1995-10", "authors": "Morales C R, el-Alfy M, Zhao Q, Igdoura S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8573994", "url": "https://glygen.org/publication/PubMed/8573994" } ] }, { "title": "Three-dimensional structure of the human 'protective protein': structure of the precursor form suggests a complex activation mechanism.", "journal": "Structure", "date": "1995", "authors": "Rudenko G, Bonten E, d'Azzo A, Hol WG", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" }, { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8591035", "url": "https://glygen.org/publication/PubMed/8591035" } ] }, { "title": "Characterization of two glycolipid: alpha 2-3sialyltransferases, SAT-3 (CMP-NeuAc:nLcOse4Cer alpha 2-3sialyltransferase) and SAT-4 (CMP-NeuAc:GgOse4Cer alpha 2-3sialyltransferase), from human colon carcinoma (Colo 205) cell line.", "journal": "Biochemistry", "date": "1996", "authors": "Basu SS, Basu M, Li Z, Basu S", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "8611500", "url": "https://glygen.org/publication/PubMed/8611500" } ] }, { "title": "Expression cloning of a human GT3 synthase. GD3 AND GT3 are synthesized by a single enzyme.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Nakayama J, Fukuda MN, Hirabayashi Y, Kanamori A, Sasaki K, Nishi T, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "8631981", "url": "https://glygen.org/publication/PubMed/8631981" } ] }, { "title": "B lymphocytes secrete antigen-presenting vesicles.", "journal": "The Journal of experimental medicine", "date": "1996", "authors": "Raposo G, Nijman HW, Stoorvogel W, Liejendekker R, Harding CV, Melief CJ, Geuze HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8642258", "url": "https://glygen.org/publication/PubMed/8642258" } ] }, { "title": "Proteolytic processing patterns of prosaposin in insect and mammalian cells.", "journal": "The Journal of biological chemistry", "date": "1996-07-19", "authors": "Leonova T, Qi X, Bencosme A, Ponce E, Sun Y, Grabowski G A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8663398", "url": "https://glygen.org/publication/PubMed/8663398" } ] }, { "title": "Potential sites for processing of the human invariant chain by cathepsins D and E.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Kageyama T, Yonezawa S, Ichinose M, Miki K, Moriyama A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8687433", "url": "https://glygen.org/publication/PubMed/8687433" } ] }, { "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": "Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal system.", "journal": "FEBS letters", "date": "1996-09-09", "authors": "Kase R, Bierfreund U, Klein A, Kolter T, Itoh K, Suzuki M, Hashimoto Y, Sandhoff K, Sakuraba H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8804427", "url": "https://glygen.org/publication/PubMed/8804427" } ] }, { "title": "Enhanced dissociation of HLA-DR-bound peptides in the presence of HLA-DM.", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Weber DA, Evavold BD, Jensen PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8849454", "url": "https://glygen.org/publication/PubMed/8849454" } ] }, { "title": "Glucocerebrosidase (Gaucher disease).", "journal": "Human mutation", "date": "1996", "authors": "Beutler E, Gelbart T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8889578", "url": "https://glygen.org/publication/PubMed/8889578" } ] }, { "title": "Direct vesicular transport of MHC class II molecules from lysosomal structures to the cell surface.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Wubbolts R, Fernandez-Borja M, Oomen L, Verwoerd D, Janssen H, Calafat J, Tulp A, Dusseljee S, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8909537", "url": "https://glygen.org/publication/PubMed/8909537" } ] }, { "title": "Molecular cloning and expression of human Gal beta 1,3GalNAc alpha 2,3-sialytransferase (hST3Gal II).", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Kim YJ, Kim KS, Kim SH, Kim CH, Ko JH, Choe IS, Tsuji S, Lee YC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "8920913", "url": "https://glygen.org/publication/PubMed/8920913" } ] }, { "title": "Expression of major histocompatibility complex class II molecules in HeLa cells promotes the recruitment of AP-1 Golgi-specific assembly proteins on Golgi membranes.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Salamero J, Le Borgne R, Saudrais C, Goud B, Hoflack B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8939989", "url": "https://glygen.org/publication/PubMed/8939989" } ] }, { "title": "Editing of the HLA-DR-peptide repertoire by HLA-DM.", "journal": "The EMBO journal", "date": "1996", "authors": "Kropshofer H, Vogt AB, Moldenhauer G, Hammer J, Blum JS, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8947036", "url": "https://glygen.org/publication/PubMed/8947036" } ] }, { "title": "Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Koch J, Gartner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8955159", "url": "https://glygen.org/publication/PubMed/8955159" } ] }, { "title": "Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.", "journal": "Human molecular genetics", "date": "1996", "authors": "Zhou XY, van der Spoel A, Rottier R, Hale G, Willemsen R, Berry GT, Strisciuglio P, Morrone A, Zammarchi E, Andria G, d'Azzo A", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "reference": [ { "type": "PubMed", "id": "8968752", "url": "https://glygen.org/publication/PubMed/8968752" } ] }, { "title": "Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.", "journal": "Genes & development", "date": "1996", "authors": "Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8985184", "url": "https://glygen.org/publication/PubMed/8985184" } ] }, { "title": "Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family.", "journal": "Journal of biochemistry", "date": "1996", "authors": "Ishida N, Miura N, Yoshioka S, Kawakita M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "9010752", "url": "https://glygen.org/publication/PubMed/9010752" } ] }, { "title": "Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.", "journal": "Nature genetics", "date": "1997", "authors": "Pshezhetsky AV, Richard C, Michaud L, Igdoura S, Wang S, Elsliger MA, Qu J, Leclerc D, Gravel R, Dallaire L, Potier M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4341670", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4341670" } ], "reference": [ { "type": "PubMed", "id": "9054950", "url": "https://glygen.org/publication/PubMed/9054950" } ] }, { "title": "HLA-DM acts as a molecular chaperone and rescues empty HLA-DR molecules at lysosomal pH.", "journal": "Immunity", "date": "1997", "authors": "Kropshofer H, Arndt SO, Moldenhauer G, Hammerling GJ, Vogt AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9075930", "url": "https://glygen.org/publication/PubMed/9075930" } ] }, { "title": "Molecular cloning and expression of human alpha2,8-sialyltransferase (hST8Sia V).", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Kim YJ, Kim KS, Do S, Kim CH, Kim SK, Lee YC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "9199191", "url": "https://glygen.org/publication/PubMed/9199191" } ] }, { "title": "Decreased endosomal delivery of major histocompatibility complex class II-invariant chain complexes in dynamin-deficient cells.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Wang K, Peterson PA, Karlsson L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9202021", "url": "https://glygen.org/publication/PubMed/9202021" } ] }, { "title": "Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and hexosaminidase A.", "journal": "Biochimica et biophysica acta", "date": "1997-06-20", "authors": "Yadao F, Hechtman P, Kaplan F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "9217013", "url": "https://glygen.org/publication/PubMed/9217013" } ] }, { "title": "Negative regulation by HLA-DO of MHC class II-restricted antigen processing.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Denzin LK, Sant'Angelo DB, Hammond C, Surman MJ, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9311912", "url": "https://glygen.org/publication/PubMed/9311912" } ] }, { "title": "Interaction of MHC class II molecules with the invariant chain: role of the invariant chain (81-90) region.", "journal": "The EMBO journal", "date": "1997", "authors": "Stumptner P, Benaroch P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9312039", "url": "https://glygen.org/publication/PubMed/9312039" } ] }, { "title": "Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.", "journal": "Human mutation", "date": "1997", "authors": "Wenger DA, Rafi MA, Luzi P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "9338580", "url": "https://glygen.org/publication/PubMed/9338580" } ] }, { "title": "Medium chains of adaptor complexes AP-1 and AP-2 recognize leucine-based sorting signals from the invariant chain.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Rodionov DG, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9497313", "url": "https://glygen.org/publication/PubMed/9497313" } ] }, { "title": "Cloned mammalian neutral sphingomyelinase: functions in sphingolipid signaling?", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Tomiuk S, Hofmann K, Nix M, Zumbansen M, Stoffel W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "9520418", "url": "https://glygen.org/publication/PubMed/9520418" } ] }, { "title": "Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.", "journal": "Biochemistry", "date": "1998", "authors": "Lukatela G, Krauss N, Theis K, Selmer T, Gieselmann V, von Figura K, Saenger W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "9521684", "url": "https://glygen.org/publication/PubMed/9521684" } ] }, { "title": "Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Deussing J, Roth W, Saftig P, Peters C, Ploegh HL, Villadangos JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9539769", "url": "https://glygen.org/publication/PubMed/9539769" } ] }, { "title": "Cathepsin L: critical role in Ii degradation and CD4 T cell selection in the thymus.", "journal": "Science (New York, N.Y.)", "date": "1998", "authors": "Nakagawa T, Roth W, Wong P, Nelson A, Farr A, Deussing J, Villadangos JA, Ploegh H, Peters C, Rudensky AY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9545226", "url": "https://glygen.org/publication/PubMed/9545226" } ] }, { "title": "A role for HLA-DO as a co-chaperone of HLA-DM in peptide loading of MHC class II molecules.", "journal": "The EMBO journal", "date": "1998", "authors": "Kropshofer H, Vogt AB, Thery C, Armandola EA, Li BC, Moldenhauer G, Amigorena S, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9606180", "url": "https://glygen.org/publication/PubMed/9606180" } ] }, { "title": "Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ishii A, Ohta M, Watanabe Y, Matsuda K, Ishiyama K, Sakoe K, Nakamura M, Inokuchi J, Sanai Y, Saito M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "9822625", "url": "https://glygen.org/publication/PubMed/9822625" } ] }, { "title": "Cloning and expression of cDNA for a human Sia alpha 2,3Gal beta 1, 4GlcNA:alpha 2,8-sialyltransferase (hST8Sia III).", "journal": "Archives of biochemistry and biophysics", "date": "1998", "authors": "Lee YC, Kim YJ, Lee KY, Kim KS, Kim BU, Kim HN, Kim CH, Do SI", "evidence": [ { "database": "Reactome", "id": "R-HSA-4085001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001" } ], "reference": [ { "type": "PubMed", "id": "9826427", "url": "https://glygen.org/publication/PubMed/9826427" } ] } ], "pathway": [ { "id": "hsa:5476", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5476", "resource": "KEGG Pathway" }, { "id": "R-HSA-2132295", "name": "MHC class II antigen presentation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295", "resource": "Reactome", "description": "MHC class II antigen presentation" }, { "id": "R-HSA-4085001", "name": "Sialic acid metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4085001", "resource": "Reactome", "description": "Sialic acid metabolism" }, { "id": "R-HSA-4341670", "name": "Defective NEU1 causes sialidosis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4341670", "resource": "Reactome", "description": "Defective NEU1 causes sialidosis" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-9840310", "name": "Glycosphingolipid catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310", "resource": "Reactome", "description": "Glycosphingolipid catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6ARV9-1", "protein_name": "Carboxypeptidase", "gene_name": "Ctsa", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTSSPKAAPGEQGHKEAEVRRCPDWWAAIVSLWPGVGPGWGLPPEMCAISPGTAAPKRKGSGELVNILHRCFLPQMPRAALSPLLLLLLLSWASRDEAAPDQDEIDCLPGLAKQPSFRQYSGYLKASDSKHFHYWFVESQNDPKNSPVVLWLNGGPGCSSLDGLLTEHGPFLIQPDGVTLEYNPYSWNLIANMLYIESPAGVGFSYSDDKMYVTNDTEVAENNYQALKDFYHLFPEYKDNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWTSLQTHCCSQNKCNFYDNKDPDCVNNLQEVSRIVGKSGLNIYNLYAPCAGGVPGRDRSEDTLVVQDFGNIFTRLPLKRRFPEALLLRSGDKVRLDPPCTNTTAPSTYLNNPYVRKALHIPESLPRWDMCNLMVNLQYRRLYESMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVDYGESGEQVAGFVKECSHITFLTIKGAGHMVPTDKPRAAFTMFSRFLNKEPY", "length": 550 }, "evidence": [ { "id": "45919413", "url": "http://www.informatics.jax.org/homology/45919413", "database": "MGI" }, { "id": "P10619", "url": "https://omabrowser.org/oma/group/P10619/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P00729-1", "protein_name": "Carboxypeptidase Y", "gene_name": "PRC1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MKAFTSLLCGLGLSTTLAKAISLQRPLGLDKDVLLQAAEKFGLDLDLDHLLKELDSNVLDAWAQIEHLYPNQVMSLETSTKPKFPEAIKTKKDWDFVVKNDAIENYQLRVNKIKDPKILGIDPNVTQYTGYLDVEDEDKHFFFWTFESRNDPAKDPVILWLNGGPGCSSLTGLFFELGPSSIGPDLKPIGNPYSWNSNATVIFLDQPVNVGFSYSGSSGVSNTVAAGKDVYNFLELFFDQFPEYVNKGQDFHIAGESYAGHYIPVFASEILSHKDRNFNLTSVLIGNGLTDPLTQYNYYEPMACGEGGEPSVLPSEECSAMEDSLERCLGLIESCYDSQSVWSCVPATIYCNNAQLAPYQRTGRNVYDIRKDCEGGNLCYPTLQDIDDYLNQDYVKEAVGAEVDHYESCNFDINRNFLFAGDWMKPYHTAVTDLLNQDLPILVYAGDKDFICNWLGNKAWTDVLPWKYDEEFASQKVRNWTASITDEVAGEVKSYKHFTYLRVFNGGHMVPFDVPENALSMVNEWIHGGFSL", "length": 532 }, "evidence": [ { "id": "P10619", "url": "https://omabrowser.org/oma/group/P10619/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P16675-1", "protein_name": "Lysosomal protective protein", "gene_name": "Ctsa", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGTALSPLLLLLLLSWASRNEAAPDQDEIDCLPGLAKQPSFRQYSGYLRASDSKHFHYWFVESQNDPKNSPVVLWLNGGPGCSSLDGLLTEHGPFLIQPDGVTLEYNPYAWNLIANVLYIESPAGVGFSYSDDKMYVTNDTEVAENNYEALKDFFRLFPEYKDNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLASYEQNDNSLVYFAYYHGLLGNRLWTSLQTHCCAQNKCNFYDNKDPECVNNLLEVSRIVGKSGLNIYNLYAPCAGGVPGRHRYEDTLVVQDFGNIFTRLPLKRRFPEALMRSGDKVRLDPPCTNTTAPSNYLNNPYVRKALHIPESLPRWDMCNFLVNLQYRRLYQSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVDYGESGEQVAGFVKECSHITFLTIKGAGHMVPTDKPRAAFTMFSRFLNKEPY", "length": 474 }, "evidence": [ { "id": "45919413", "url": "http://www.informatics.jax.org/homology/45919413", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "negative regulation of chaperone-mediated autophagy", "id": "GO:1904715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904715", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "regulation of chaperone-mediated autophagy", "id": "GO:1904714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904714", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "serine-type carboxypeptidase activity", "id": "GO:0004185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004185", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "carboxypeptidase activity", "id": "GO:0004180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004180", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "azurophil granule lumen", "id": "GO:0035578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035578", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "P10619", "url": "https://www.uniprot.org/uniprot/P10619" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 145, "end_pos": 147, "annotation": "n_glycosylation_sequon" }, { "start_pos": 333, "end_pos": 335, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-1605724", "name": "NEU1,4 hydrolyze PSAP(195-273):GM3:PE", "equation": "", "summary": "Ganglioside GM3, mobilized by Saposin B (PSAP(195-273)), is hydrolyzed by sialidases to lactosylceramide (LacCer). Sialidases (NEU, neuraminidases) hydrolyze sialic acids (N-acetylneuramic acid, Neu5Ac, NANA) to produce asialo compounds, a step in the degradation process of glycoproteins and gangliosides. NEU1 and NEU4 hydrolyse NANA in the lysosomal lumen. NEU1 is active in a multienzyme complex comprising cathepsin A protective protein (CTSA) and beta-galactosidase (Bonten et al. 1996, Rudenko et al. 1995). Defects in NEU1 cause Sialidosis (MIM:256550) (Bonten et al. 1996). CTSA appears to exert a protective function necessary for the stability and activity of these enzymes (Galjart et al. 1988). Defects in CTSA are the cause of galactosialidosis (GSL, MIM:256540) (Zhou et al. 1991). NEU4 is also a lysosomal sialidase which, unlike NEU1, does not require association with other proteins for enzymatic activity. Isoform 2 seems to be the lysosomal sialidase (Seyrantepe et al. 2004). Researchers observed elevated GM3 in prosaposin deficiency (PSAPD, MIM: 611721) cases, a rare disease with low levels of all saposins. The essential cofactor missing appears to be Saposin B (PSAP(195-273)) (Schmidt et al., 1992; Bradova et al., 1993).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q99519-1", "P10619-1", "P16278-1" ], "evidence": [ { "id": "R-HSA-1605724", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1605724" } ] }, { "id": "R-HSA-2130349", "name": "Generation of CLIP from lip10", "equation": "", "summary": "The lip10 fragments bound in the nonameric complex are processed leaving only the CLIP fragment (81-105) bound to the MHC II peptide binding groove. Three cysteine proteases have been shown to be capable of digesting lip10, each with a different expression pattern among different APC. Cathepsin (Cat) S digests Ii in B cells and dendritic cells, thymic epithelial cells use Cat L and Cat L, while Cat S and F are active in macrophages (Villadangos, 2001; Bryant et al, 2002). Cat S appears to be the major enzyme involved as demonstrated by the use of specific inhibitors and of knockout experiments (Stumptner-Cuvelette et al. 2002). Following lip10 digestion, the MHC-like molecule HLA-DM induces the exchange of CLIP fragment for a highly diverse array of antigens (Denzin & Cresswell. 1995).", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBX1-1", "P10619-1", "P07339-1", "P07858-1", "P07711-1", "P14091-1", "P43234-1", "P53634-1", "P43235-1", "O60911-1", "P25774-1" ], "evidence": [ { "id": "R-HSA-2130349", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2130349" } ] }, { "id": "R-HSA-2130504", "name": "Cleavage of lip22 to lip10", "equation": "", "summary": "The cleavage of lip22 occurs in residues 115-125, closer to the C-terminus than CLIP (residues 81-105). The resulting lip10 fragment is approximately 100 residues long and extends just through the C-terminus of the Ii CLIP. The proteases responsible for generating lip10 in vivo are not determined. Cysteine proteases like cathepsin S (CatS) are capable of degrading lip22 to lip10 (Bania et al. 2003) but in the presence of LHVS, an inhibitor of CatS, lip22 degradation is still observed, suggesting that other proteases are involved (Villadangos et al. 1997), possibly aspartic proteinases such as cathepsins D and E (Kageyama et al. 1996). The degradation of lip22 may depend on cell type (Bania et al. 2003). The lip22 and lip10 intermediate forms are still maintained as a nonameric complex due to the existence of the last trimerisation domain in the transmembrane region.", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBX1-1", "P10619-1", "P07339-1", "P07858-1", "P07711-1", "P14091-1", "P43234-1", "P53634-1", "P43235-1", "O60911-1", "P25774-1" ], "evidence": [ { "id": "R-HSA-2130504", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2130504" } ] }, { "id": "R-HSA-2130706", "name": "MHC class II antigen processing", "equation": "", "summary": "Antigen processing and loading on to MHC class II molecules occurs in late endocytic/lysosomal vesicles, where epitopes which require extensive proteolytic processing are generated (Bryant & Ploegh 2003). These late endosome/lysosomal-like compartments are enriched in MHC II and are referred to as MIICs (MHC class II compartments) (Peters et al. 1991). A variety of lysosomal proteases like cathepsins S, D, B etc. and Asparaginyl endopeptidase (AEP) are suggested to be involved in the processing of antigens to generate CD4+ T cell epitopes (Deusing et al. 1998, Shi et al. 1999, Pluger et al. 2002, Watts et al. 2005). An initial cleavage by endopeptidases (AEP) would be necessary to unlock the antigen and allow further trimming of the ends by exopeptidases (Cathepsins). In the acidic environment of the lysosome, cathepsins are generally activated by autocatalytic cleavage of a propeptide which otherwise blocks the active site.", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [ "R-ALL-2213226" ], "enzyme_list": [ "Q9UBX1-1", "P10619-1", "P07339-1", "P07858-1", "P07711-1", "P14091-1", "P43234-1", "P53634-1", "P43235-1", "O60911-1", "P25774-1" ], "evidence": [ { "id": "R-HSA-2130706", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2130706" } ] }, { "id": "R-HSA-4084999", "name": "NEU1 hydrolyses Neu5Ac from glycoconjugates", "equation": "", "summary": "Sialidases 1-4 (NEU1-4, neuraminidases, receptor-destroying enzymes, RDEs) hydrolyse sialic acids (N-acetylneuraminic acid, Neu5Ac) to produce asialo compounds, a step in the degradation process of glycoproteins and gangliosides and are expressed in a variety of cellular locations. NEU4 is an extrinsic membrane protein associated with lysosomes, mitochondria and endoplasmic reticulum. It has broad sialidase activity against glycoconjugates with alpha2,3-, alpha2,6- or alpha2,8-linkages (Bigi et al. 2010, Monti et al. 2004, Seyrantepe et al. 2004). NEU1 (lysosomal sialidase) hydrolyses Neu5Ac from glycoconjugates with alpha2,3-, alpha2,6- or alpha2,8-linked terminal sialated residues in the lysosomal lumen. NEU1 is active in a multienzyme complex comprising cathepsin A protective protein (CTSA) and beta-galactosidase (Bonten et al. 1996, Rudenko et al. 1995). Defects in NEU1 cause Sialidosis (MIM:256550), a lysosomal storage disorder manifesting as type I (late-onset) or type II (earlier-onset) (Bonten et al. 1996). CTSA is thought to exert a protective function necessary for stability and activity of these enzymes (Galjart et al. 1988). Defects in CTSA are the cause of galactosialidosis (GSL; MIM:256540) (Zhou et al. 1991).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q99519-1", "P10619-1", "P16278-1" ], "evidence": [ { "id": "R-HSA-4084999", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4084999" } ] }, { "id": "R-HSA-4341669", "name": "Defective NEU1 does not hydrolyse Neu5Ac from glycoconjugates", "equation": "", "summary": "NEU1 Sialidase 1 (NEU1, neuraminidase, receptor-destroying enzyme, RDE) normally hydrolyses N-acetylneuraminic acid (Neu5Ac) from glycoconjugates with alpha2,3-, alpha2,6- or alpha2,8-linked terminal sialated residues in the lysosomal lumen, a step in the degradation process of glycoproteins and gangliosides. NEU1 is active in a multienzyme complex comprising cathepsin A protective protein (CTSA) and beta-galactosidase (Bonten et al. 1996, Rudenko et al. 1995). Defects in NEU1 cause Sialidosis (MIM:256550), a lysosomal storage disorder manifesting as type I (late-onset) or type II (earlier-onset) (Bonten et al. 1996). Generally, patients with the more severe type II disease have catalytically inactive enzymes whereas patients with the milder type I disease have some residual activity. Mutations causing the severest type II disease include E377*, L303P, W29*, R225P and W23* (Bonten et al. 1996, Pshezhetsky et al. 1997, Sergi et al. 2001, Pattison et al. 2004).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q99519-1", "P10619-1", "P16278-1" ], "evidence": [ { "id": "R-HSA-4341669", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4341669" } ] }, { "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" } ] }, { "id": "R-HSA-9638120", "name": "NEU4 hydrolyses Neu5Ac from glycoconjugates", "equation": "", "summary": "Sialidases 1-4 (NEU1-4, neuraminidases, receptor-destroying enzymes, RDEs) hydrolyse sialic acids (N-acetylneuraminic acid, Neu5Ac) to produce asialo compounds, a step in the degradation process of glycoproteins and gangliosides and are expressed in a variety of cellular locations. NEU4 is an extrinsic membrane protein associated with lysosomes, mitochondria and endoplasmic reticulum. It has broad sialidase activity against glycoconjugates with alpha2,3-, alpha2,6- or alpha2,8-linkages (Bigi et al. 2010, Monti et al. 2004, Seyrantepe et al. 2004). NEU1 (lysosomal sialidase) hydrolyses Neu5Ac from glycoconjugates with alpha2,3-, alpha2,6- or alpha2,8-linked terminal sialated residues in the lysosomal lumen. NEU1 is active in a multienzyme complex comprising cathepsin A protective protein (CTSA) and beta-galactosidase (Bonten et al. 1996, Rudenko et al. 1995). Defects in NEU1 cause Sialidosis (MIM:256550), a lysosomal storage disorder manifesting as type I (late-onset) or type II (earlier-onset) (Bonten et al. 1996). CTSA is thought to exert a protective function necessary for stability and activity of these enzymes (Galjart et al. 1988). Defects in CTSA are the cause of galactosialidosis (GSL; MIM:256540) (Zhou et al. 1991).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10619-1", "P16278-1", "Q8WWR8-1" ], "evidence": [ { "id": "R-HSA-9638120", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9638120" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-2213226", "participant_name": "MHC class II epitopes [lysosomal lumen]", "crossref": [ { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "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": "O60911", "gene_name": "CTSV", "activity": [ { "ec_number": "3.4.22.43", "activity": "The recombinant enzyme hydrolyzes proteins (serum albumin, collagen) and synthetic substrates (Z-Phe-Arg-NHMec > Z-Leu-Arg-NHMec > Z-Val-Arg-NHMec).", "evidence": [ { "id": "O60911", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60911" } ] }, { "ec_number": "3.4.22.43", "activity": "", "evidence": [ { "id": "O60911", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60911" } ] } ] }, { "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": "P07339", "gene_name": "CTSD", "activity": [ { "ec_number": "3.4.23.5", "activity": "Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] }, { "ec_number": "3.4.23.5", "activity": "", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] } ] }, { "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": "P07711", "gene_name": "CTSL", "activity": [ { "ec_number": "3.4.22.15", "activity": "Specificity close to that of papain. As compared to cathepsin B, cathepsin L exhibits higher activity toward protein substrates, but has little activity on Z-Arg-Arg-NHMec, and no peptidyl-dipeptidase activity.", "evidence": [ { "id": "P07711", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07711" } ] }, { "ec_number": "3.4.22.15", "activity": "", "evidence": [ { "id": "P07711", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07711" } ] } ] }, { "uniprot_ac": "P07858", "gene_name": "CTSB", "activity": [ { "ec_number": "3.4.22.1", "activity": "Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] }, { "ec_number": "3.4.22.1", "activity": "", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] } ] }, { "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": "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": "P14091", "gene_name": "CTSE", "activity": [ { "ec_number": "3.4.23.34", "activity": "Similar to cathepsin D, but slightly broader specificity.", "evidence": [ { "id": "P14091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14091" } ] }, { "ec_number": "3.4.23.34", "activity": "", "evidence": [ { "id": "P14091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14091" } ] } ] }, { "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": "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": "P25774", "gene_name": "CTSS", "activity": [ { "ec_number": "3.4.22.27", "activity": "Similar to cathepsin L, but with much less activity on Z-Phe-Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] }, { "ec_number": "3.4.22.27", "activity": "", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] } ] }, { "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": "P43234", "gene_name": "CTSO", "activity": [ { "ec_number": "3.4.22.42", "activity": "The recombinant human enzyme hydrolyzes synthetic endopeptidase substrates including Z-Phe-Arg-NHMec and Z-Arg-Arg-NHMec.", "evidence": [ { "id": "P43234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43234" } ] }, { "ec_number": "3.4.22.42", "activity": "", "evidence": [ { "id": "P43234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43234" } ] } ] }, { "uniprot_ac": "P43235", "gene_name": "CTSK", "activity": [ { "ec_number": "3.4.22.38", "activity": "Broad proteolytic activity. With small-molecule substrates and inhibitors, the major determinant of specificity is P2, which is preferably Leu, Met > Phe, and not Arg.", "evidence": [ { "id": "P43235", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43235" } ] }, { "ec_number": "3.4.22.38", "activity": "", "evidence": [ { "id": "P43235", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43235" } ] } ] }, { "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": "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", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN6" } ] } ] }, { "uniprot_ac": "Q8NBS9", "gene_name": "TXNDC5", "activity": [ { "ec_number": "1.8.4.-", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] } ] }, { "uniprot_ac": "Q8WWR8", "gene_name": "NEU4", "activity": [ { "ec_number": "3.2.1.18", "activity": "Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates.", "evidence": [ { "id": "Q8WWR8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WWR8" } ] }, { "ec_number": "3.2.1.18", "activity": "", "evidence": [ { "id": "Q8WWR8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WWR8" } ] } ] }, { "uniprot_ac": "Q92820", "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": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] }, { "ec_number": "3.4.19.9", "activity": "", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] } ] }, { "uniprot_ac": "Q99519", "gene_name": "NEU1", "activity": [ { "ec_number": "3.2.1.18", "activity": "Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates.", "evidence": [ { "id": "Q99519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99519" } ] }, { "ec_number": "3.2.1.18", "activity": "", "evidence": [ { "id": "Q99519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99519" } ] } ] }, { "uniprot_ac": "Q99536", "gene_name": "VAT1", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q99536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99536" } ] } ] }, { "uniprot_ac": "Q9BRF8", "gene_name": "CPPED1", "activity": [ { "ec_number": "3.1.3.16", "activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.", "evidence": [ { "id": "Q9BRF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRF8" } ] }, { "ec_number": "3.1.3.16", "activity": "", "evidence": [ { "id": "Q9BRF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRF8" } ] } ] }, { "uniprot_ac": "Q9BTY2", "gene_name": "FUCA2", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] } ] }, { "uniprot_ac": "Q9H7Z7", "gene_name": "PTGES2", "activity": [ { "ec_number": "5.3.99.3", "activity": "prostaglandin H2 = prostaglandin E2.", "evidence": [ { "id": "Q9H7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7Z7" } ] }, { "ec_number": "5.3.99.3", "activity": "", "evidence": [ { "id": "Q9H7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7Z7" } ] } ] }, { "uniprot_ac": "Q9NZK5", "gene_name": "ADA2", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q9NZK5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NZK5" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q9NZK5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NZK5" } ] } ] }, { "uniprot_ac": "Q9UBX1", "gene_name": "CTSF", "activity": [ { "ec_number": "3.4.22.41", "activity": "The recombinant enzyme cleaves synthetic substrates with Phe and Leu (better than Val) in P2, with high specificity constant (kcat/Km) comparable to that of cathepsin L.", "evidence": [ { "id": "Q9UBX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBX1" } ] }, { "ec_number": "3.4.22.41", "activity": "", "evidence": [ { "id": "Q9UBX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBX1" } ] } ] }, { "uniprot_ac": "Q9UHL4", "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. Substrates are oligopeptides, preferentially tripeptides.", "evidence": [ { "id": "Q9UHL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHL4" } ] }, { "ec_number": "3.4.14.2", "activity": "", "evidence": [ { "id": "Q9UHL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHL4" } ] } ] }, { "uniprot_ac": "Q9Y2J8", "gene_name": "PADI2", "activity": [ { "ec_number": "3.5.3.15", "activity": "H2O + L-arginyl-[protein] = L-citrullyl-[protein] + NH4(+).", "evidence": [ { "id": "Q9Y2J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2J8" } ] }, { "ec_number": "3.5.3.15", "activity": "", "evidence": [ { "id": "Q9Y2J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2J8" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 145, 153, 244, 333, 351 ], "o_linked_sites": [], "snv_sites": [ 77, 120, 145, 216, 333, 344, 406 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 145, "end_pos": 147 }, { "start_pos": 333, "end_pos": 335 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 225 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }