{ "uniprot_canonical_ac": "O43820-1", "uniprot_ac": "O43820", "uniprot_id": "HYAL3_HUMAN", "mass": { "chemical_mass": 46501.0, "monoisotopic_mass": 46501.0 }, "refseq": { "ac": "NP_001186958", "name": "hyaluronidase-3 isoform 1 precursor", "summary": "This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958" }, "gene_names": [ { "name": "HYAL3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43820", "id": "O43820" }, { "name": "HYAL-3; LUCA-3; LUCA3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958", "id": "NP_001186958" }, { "name": "HYAL3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958", "id": "NP_001186958" }, { "name": "LUCA3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43820", "id": "O43820" } ], "protein_names": [ { "name": "Hyaluronidase-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43820" }, { "name": "3.2.1.35", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43820" }, { "name": "Hyal-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43820" }, { "name": "Hyaluronoglucosaminidase-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43820" }, { "name": "LuCa-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43820" }, { "name": "Lung carcinoma protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43820" }, { "name": "hyaluronidase-3 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958", "id": "NP_001186958" }, { "name": "lung carcinoma protein 3; hyaluronoglucosaminidase 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958", "id": "NP_001186958" } ], "function": [ { "annotation": "Alternative mRNA splicing controls cellular expression of enzymatically active hyaluronidase.", "evidence": [ { "database": "RefSeq", "id": "NP_001186958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958" }, { "database": "PubMed", "id": "12084718", "url": "https://glygen.org/publication/PubMed/12084718" } ] }, { "annotation": "Expression and activity of hyaluronidases HYAL-1, HYAL-2 and HYAL-3 in the human intervertebral disc.", "evidence": [ { "database": "RefSeq", "id": "NP_001186958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958" }, { "database": "PubMed", "id": "31758257", "url": "https://glygen.org/publication/PubMed/31758257" } ] }, { "annotation": "Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid. Involved in induction of the acrosome reaction in the sperm. Involved in follicular atresia, the breakdown of immature ovarian follicles that are not selected to ovulate. Induces ovarian granulosa cell apoptosis, possibly via apoptotic signaling pathway involving CASP8 and CASP3 activation, and poly(ADP-ribose) polymerase (PARP) cleavage. Has no hyaluronidase activity in embryonic fibroblasts in vitro. Has no hyaluronidase activity in granulosa cells in vitro.", "evidence": [ { "database": "UniProtKB", "id": "O43820", "url": "https://www.uniprot.org/uniprot/O43820#function" }, { "database": "UniProtKB", "id": "Q8VEI3", "url": "https://www.uniprot.org/uniprot/Q8VEI3#function" } ] }, { "annotation": "HYAL3 as a potential novel marker of BLCA patient prognosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958" }, { "database": "PubMed", "id": "35945500", "url": "https://glygen.org/publication/PubMed/35945500" } ] }, { "annotation": "The relative expression of hyalurosome (CD44, HAS3, HB-EGF) genes was found to be reduced in patients prior to topical treatment and to be notably increased following treatment.", "evidence": [ { "database": "RefSeq", "id": "NP_001186958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958" }, { "database": "PubMed", "id": "25138066", "url": "https://glygen.org/publication/PubMed/25138066" } ] }, { "annotation": "This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001186958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs781937699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781937699" }, { "id": "rs781937699", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781937699" }, { "id": "rs781937699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781937699" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 215, "end_pos": 215, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->KYT).", "chr_id": "3", "chr_pos": "50294958", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1575496971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575496971" }, { "id": "rs1575496971", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1575496971" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 217, "end_pos": 217, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYP).", "chr_id": "3", "chr_pos": "50294954", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781926657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781926657" }, { "id": "rs781926657", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781926657" }, { "id": "rs781926657", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781926657#frequency_tab" }, { "id": "rs781926657", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781926657" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 321, "end_pos": 321, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "3", "chr_pos": "50293655", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D321", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376986088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376986088" }, { "id": "rs376986088", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376986088#frequency_tab" }, { "id": "rs376986088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376986088" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 38, "end_pos": 38, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "3", "chr_pos": "50295491", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P38", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186792" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186792" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "70.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186792" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "66.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186792" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "67.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186792" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "67.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186792" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "69.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186792" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "74.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186792" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "66.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186792" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43820", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43820" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43820", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43820" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43820", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43820" } ], "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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43820", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43820" } ], "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": "O43820", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43820" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43820" } ], "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": [ { 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{ "sequence": "MTTQLGPALVLGVALCLGCGQPLPQVPERPFSVLWNVPSAHCEARFGVHLPLNALGIIANRGQHFHGQNMTIFYKNQLGLYPYFGPRGTAHNGGIPQALPLDRHLALAAYQIHHSLRPGFAGPAVLDWEEWCPLWAGNWGRRRAYQAASWAWAQQVFPDLDPQEQLYKAYTGFEQAARALMEDTLRVAQALRPHGLWGFYHYPACGNGWHSMASNYTGRCHAATLARNTQLHWLWAASSALFPSIYLPPRLPPAHHQAFVRHRLEEAFRVALVGHRHPLPVLAYVRLTHRRSGRFLSQDDLVQSIGVSAALGAAGVVLWGDLSLSSSEEECWHLHDYLVDTLGPYVINVTRAAMACSHQRCHGHGRCARRDPGQMEAFLHLWPDGSLGDWKSFSCHCYWGWAGPTCQEPRPGPKEAV", "length": 417, "header": "sp|O43820-1|HYAL3_HUMAN Isoform 1 of Hyaluronidase-3 OS=Homo sapiens OX=9606 GN=HYAL3 PE=1 SV=1 CANONICAL=O43820-1" }, "isoforms": [ { "isoform_ac": "C9JB51-1", "url": "", "sequence": { "sequence": "MTTQLGPALVLGVALCLGCGQPLPQVPERPFSVLWNVPSAHCEARFGVHLPLNALGIIANRGQHFHGQNMTIFYKNQLGLYPYFGPRGTAHNGGIPQALPLDRHLALAAYQIHHSLRPGFAGPAVLDWEEWCPLWAGNWGRRRAYQAASWAWAQQVFPD", "length": 159, "header": "tr|C9JB51-1|HYAL3_HUMAN Computationally mapped isoform of Hyaluronidase-3 OS=Homo sapiens OX=9606 GN=HYAL3 PE=1 SV=8 CANONICAL=O43820-1" }, "locus": { "chromosome": "3", "start_pos": 50295602, "end_pos": 50295126, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435141.1", "url": "https://www.ensembl.org/id/ENST00000435141.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000391663.1", "url": "https://www.ensembl.org/id/ENSP00000391663.1" } ] } }, { "isoform_ac": "O43820-1", "url": "", "sequence": { "sequence": "MTTQLGPALVLGVALCLGCGQPLPQVPERPFSVLWNVPSAHCEARFGVHLPLNALGIIANRGQHFHGQNMTIFYKNQLGLYPYFGPRGTAHNGGIPQALPLDRHLALAAYQIHHSLRPGFAGPAVLDWEEWCPLWAGNWGRRRAYQAASWAWAQQVFPDLDPQEQLYKAYTGFEQAARALMEDTLRVAQALRPHGLWGFYHYPACGNGWHSMASNYTGRCHAATLARNTQLHWLWAASSALFPSIYLPPRLPPAHHQAFVRHRLEEAFRVALVGHRHPLPVLAYVRLTHRRSGRFLSQDDLVQSIGVSAALGAAGVVLWGDLSLSSSEEECWHLHDYLVDTLGPYVINVTRAAMACSHQRCHGHGRCARRDPGQMEAFLHLWPDGSLGDWKSFSCHCYWGWAGPTCQEPRPGPKEAV", "length": 417, "header": "sp|O43820-1|HYAL3_HUMAN Isoform 1 of Hyaluronidase-3 OS=Homo sapiens OX=9606 GN=HYAL3 PE=1 SV=1 CANONICAL=O43820-1" }, "locus": { "chromosome": "3", "start_pos": 50295602, "end_pos": 50293249, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000336307.6", "url": "https://www.ensembl.org/id/ENST00000336307.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000337425.1", "url": "https://www.ensembl.org/id/ENSP00000337425.1" } ] } }, { "isoform_ac": "O43820-2", "url": "", "sequence": { "sequence": "MTTQLGPALVLGVALCLGCGQPLPQVPERPFSVLWNVPSAHCEARFGVHLPLNALGIIANRGQHFHGQNMTIFYKNQLGLYPYFGPRGTAHNGGIPQALPLDRHLALAAYQIHHSLRPGFAGPAVLDWEEWCPLWAGNWGRRRAYQAASWAWAQQVFPDLDPQEQLYKAYTGFEQAARALMEDTLRVAQALRPHGLWGFYHYPACGNGWHSMASNYTGRCHAATLARNTQLHWLWAASSALFPSIYLPPRLPPAHHQAFVRHRLEEAFRVALVGHRHPLPVLAYVRLTHRRSGRFLSQEECWHLHDYLVDTLGPYVINVTRAAMACSHQRCHGHGRCARRDPGQMEAFLHLWPDGSLGDWKSFSCHCYWGWAGPTCQEPRPGPKEAV", "length": 387, "header": "sp|O43820-2|HYAL3_HUMAN Isoform 2 of Hyaluronidase-3 OS=Homo sapiens OX=9606 GN=HYAL3 PE=1 SV=1 CANONICAL=O43820-1" }, "locus": { "chromosome": "3", "start_pos": 50295602, "end_pos": 50293249, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359051.7", "url": "https://www.ensembl.org/id/ENST00000359051.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000351946.3", "url": "https://www.ensembl.org/id/ENSP00000351946.3" } ] } }, { "isoform_ac": "O43820-3", "url": "", "sequence": { "sequence": "MLPPAHHQAFVRHRLEEAFRVALVGHRHPLPVLAYVRLTHRRSGRFLSQDDLVQSIGVSAALGAAGVVLWGDLSLSSSEEECWHLHDYLVDTLGPYVINVTRAAMACSHQRCHGHGRCARRDPGQMEAFLHLWPDGSLGDWKSFSCHCYWGWAGPTCQEPRPGPKEAV", "length": 168, "header": "sp|O43820-3|HYAL3_HUMAN Isoform 3 of Hyaluronidase-3 OS=Homo sapiens OX=9606 GN=HYAL3 PE=1 SV=1 CANONICAL=O43820-1" }, "locus": { "chromosome": "3", "start_pos": 50299214, "end_pos": 50293249, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415204.5", "url": "https://www.ensembl.org/id/ENST00000415204.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000401092.1", "url": "https://www.ensembl.org/id/ENSP00000401092.1" } ] } }, { "isoform_ac": "O43820-4", "url": "", "sequence": { "sequence": "MLPPAHHQAFVRHRLEEAFRVALVGHRHPLPVLAYVRLTHRRSGRFLSQEECWHLHDYLVDTLGPYVINVTRAAMACSHQRCHGHGRCARRDPGQMEAFLHLWPDGSLGDWKSFSCHCYWGWAGPTCQEPRPGPKEAV", "length": 138, "header": "sp|O43820-4|HYAL3_HUMAN Isoform 4 of Hyaluronidase-3 OS=Homo sapiens OX=9606 GN=HYAL3 PE=1 SV=1 CANONICAL=O43820-1" }, "locus": { "chromosome": "3", "start_pos": 50299214, "end_pos": 50293249, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513170.1", "url": "https://www.ensembl.org/id/ENST00000513170.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000424633.1", "url": "https://www.ensembl.org/id/ENSP00000424633.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 215, "start_aa": "Asn", "end_pos": 215, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn215", "evidence": [ { "id": "O43820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43820#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "O43820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43820#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycohydrolase-activity", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "LYVE-1, a new homologue of the CD44 glycoprotein, is a lymph-specific receptor for hyaluronan.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Banerji S, Ni J, Wang SX, Clasper S, Su J, Tammi R, Jones M, Jackson DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "10037799", "url": "https://glygen.org/publication/PubMed/10037799" } ] }, { "title": "Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31.", "journal": "Genomics", "date": "1999", "authors": "Cs\u00f3ka A B, Scherer S W, Stern R", "evidence": [ { "database": "UniProtKB", "id": "O43820", "url": "https://www.uniprot.org/uniprot/O43820" } ], "reference": [ { "type": "PubMed", "id": "10493834", "url": "https://glygen.org/publication/PubMed/10493834" } ] }, { "title": "Calcineurin homologous protein as an essential cofactor for Na+/H+ exchangers.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Pang T, Su X, Wakabayashi S, Shigekawa M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "11350981", "url": "https://glygen.org/publication/PubMed/11350981" } ] }, { "title": "A novel inhibitor of beta-glucuronidase: L-aspartic acid.", "journal": "Pediatric research", "date": "2001", "authors": "Kreamer BL, Siegel FL, Gourley GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "11568288", "url": "https://glygen.org/publication/PubMed/11568288" } ] }, { "title": "Regulation of hyaluronidase activity by alternative mRNA splicing.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Lokeshwar VB, Schroeder GL, Carey RI, Soloway MS, Iida N", "evidence": [ { "database": "UniProtKB", "id": "O43820", "url": "https://www.uniprot.org/uniprot/O43820" }, { "database": "RefSeq", "id": "NP_001186958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958" } ], "reference": [ { "type": "PubMed", "id": "12084718", "url": "https://glygen.org/publication/PubMed/12084718" } ] }, { "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-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "12888274", "url": "https://glygen.org/publication/PubMed/12888274" } ] }, { "title": "Hyaluronate binding and CD44 expression in human glioblastoma cells and astrocytes.", "journal": "Experimental cell research", "date": "1992", "authors": "Asher R, Bignami A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "1426053", "url": "https://glygen.org/publication/PubMed/1426053" } ] }, { "title": "Role of calcineurin B homologous protein in pH regulation by the Na+/H+ exchanger 1: tightly bound Ca2+ ions as important structural elements.", "journal": "Biochemistry", "date": "2004", "authors": "Pang T, Hisamitsu T, Mori H, Shigekawa M, Wakabayashi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "15035633", "url": "https://glygen.org/publication/PubMed/15035633" } ] }, { "title": "CD44 interaction with Na+-H+ exchanger (NHE1) creates acidic microenvironments leading to hyaluronidase-2 and cathepsin B activation and breast tumor cell invasion.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Bourguignon LY, Singleton PA, Diedrich F, Stern R, Gilad E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "15090545", "url": "https://glygen.org/publication/PubMed/15090545" } ] }, { "title": "Endocytic function, glycosaminoglycan specificity, and antibody sensitivity of the recombinant human 190-kDa hyaluronan receptor for endocytosis (HARE).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Harris EN, Weigel JA, Weigel PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "15208308", "url": "https://glygen.org/publication/PubMed/15208308" } ] }, { "title": "Lysosomal metabolism of glycoproteins.", "journal": "Glycobiology", "date": "2005", "authors": "Winchester B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "15647514", "url": "https://glygen.org/publication/PubMed/15647514" } ] }, { "title": "Structures of vertebrate hyaluronidases and their unique enzymatic mechanism of hydrolysis.", "journal": "Proteins", "date": "2005", "authors": "Jedrzejas MJ, Stern R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "16104017", "url": "https://glygen.org/publication/PubMed/16104017" } ] }, { "title": "The hyaluronate receptor is a member of the CD44 (H-CAM) family of cell surface glycoproteins.", "journal": "The Journal of cell biology", "date": "1990", "authors": "Culty M, Miyake K, Kincade PW, Sikorski E, Butcher EC, Underhill C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "1703543", "url": "https://glygen.org/publication/PubMed/1703543" } ] }, { "title": "Solution structure of the cytoplasmic region of Na+/H+ exchanger 1 complexed with essential cofactor calcineurin B homologous protein 1.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Mishima M, Wakabayashi S, Kojima C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "17050540", "url": "https://glygen.org/publication/PubMed/17050540" } ] }, { "title": "Expression, processing, and glycosaminoglycan binding activity of the recombinant human 315-kDa hyaluronic acid receptor for endocytosis (HARE).", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Harris EN, Kyosseva SV, Weigel JA, Weigel PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "17145755", "url": "https://glygen.org/publication/PubMed/17145755" } ] }, { "title": "The human hyaluronan receptor for endocytosis (HARE/Stabilin-2) is a systemic clearance receptor for heparin.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Harris EN, Weigel JA, Weigel PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "18434317", "url": "https://glygen.org/publication/PubMed/18434317" } ] }, { "title": "Human alpha-L-iduronidase: cDNA isolation and expression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Scott HS, Anson DS, Orsborn AM, Nelson PV, Clements PR, Morris CP, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "1946389", "url": "https://glygen.org/publication/PubMed/1946389" } ] }, { "title": "Acidic hyaluronidase activity is present in mouse sperm and is reduced in the absence of SPAM1: evidence for a role for hyaluronidase 3 in mouse and human sperm.", "journal": "Mol. Reprod. Dev.", "date": "2010", "authors": "Reese KL, Aravindan RG, Griffiths GS, Shao M, Wang Y, Galileo DS, Atmuri V, Triggs-Raine BL, Martin-Deleon PA", "evidence": [ { "database": "UniProtKB", "id": "O43820", "url": "https://www.uniprot.org/uniprot/O43820" } ], "reference": [ { "type": "PubMed", "id": "20586096", "url": "https://glygen.org/publication/PubMed/20586096" } ] }, { "title": "Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements PR, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "2122463", "url": "https://glygen.org/publication/PubMed/2122463" } ] }, { "title": "Ultraviolet-B irradiation induces differential regulations of hyaluronidase expression and activity in normal human keratinocytes.", "journal": "Photochem. Photobiol.", "date": "2011", "authors": "Kurdykowski S, Mine S, Bardey V, Danoux L, Jeanmaire C, Pauly G, Brabencova E, Wegrowski Y, Maquart FX", "evidence": [ { "database": "UniProtKB", "id": "O43820", "url": "https://www.uniprot.org/uniprot/O43820" } ], "reference": [ { "type": "PubMed", "id": "21699545", "url": "https://glygen.org/publication/PubMed/21699545" } ] }, { "title": "Hyalurosome gene regulation and dose-dependent restoration of skin atrophy by retinaldehyde and defined-size hyaluronate fragments in dermatoporosis.", "journal": "Dermatology (Basel, Switzerland)", "date": "2014", "authors": "Nikolic DS, Ziori C, Kostaki M, Fontao L, Saurat JH, Kaya G", "evidence": [ { "database": "RefSeq", "id": "NP_001186958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958" } ], "reference": [ { "type": "PubMed", "id": "25138066", "url": "https://glygen.org/publication/PubMed/25138066" } ] }, { "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-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "2971395", "url": "https://glygen.org/publication/PubMed/2971395" } ] }, { "title": "Demonstration of an endo-beta-galactosidase and an endo-beta-xylosidase that degrade the proteoglycan linkage region.", "journal": "Biochimica et biophysica acta", "date": "1988", "authors": "Takagaki K, Nakamura T, Endo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "3134052", "url": "https://glygen.org/publication/PubMed/3134052" } ] }, { "title": "Expression and activity of hyaluronidases HYAL-1, HYAL-2 and HYAL-3 in the human intervertebral disc.", "journal": "European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society", "date": "2020", "authors": "Krupkova O, Greutert H, Boos N, Lemcke J, Liebscher T, Wuertz-Kozak K", "evidence": [ { "database": "RefSeq", "id": "NP_001186958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958" } ], "reference": [ { "type": "PubMed", "id": "31758257", "url": "https://glygen.org/publication/PubMed/31758257" } ] }, { "title": "Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Oshima A, Kyle JW, Miller RD, Hoffmann JW, Powell PP, Grubb JH, Sly WS, Tropak M, Guise KS, Gravel RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160916" } ], "reference": [ { "type": "PubMed", "id": "3468507", "url": "https://glygen.org/publication/PubMed/3468507" } ] }, { "title": "HYAL3 as a potential novel marker of BLCA patient prognosis.", "journal": "BMC genomic data", "date": "2022-08-09", "authors": "Liu Jun-Peng, Fang Yu-Tong, Jiang Yi-Fan, Lin Hao", "evidence": [ { "database": "RefSeq", "id": "NP_001186958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186958" } ], "reference": [ { "type": "PubMed", "id": "35945500", "url": "https://glygen.org/publication/PubMed/35945500" } ] }, { "title": "Arylsulphatase B, an exo-sulphatase for chondroitin 4-sulphate tetrasaccharide.", "journal": "Hoppe-Seyler's Zeitschrift fur physiologische Chemie", "date": "1978", "authors": "Gorham SD, Cantz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "738706", "url": "https://glygen.org/publication/PubMed/738706" } ] }, { "title": "A 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It also hydrolyses this linkage in hyaluronate, another glycosaminoglycan (GAG) composed of repeating disaccharide units but the only one which is non-sulfated (Frost et al. 1997). There are five human hyaluronidases (HYALs, endo-beta-acetyl-hexosaminidases), HYAL1-4, and PH-20 (Jedrzejas & Stern 2005).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43820-1", "Q12794-1" ], "evidence": [ { "id": "R-HSA-1793209", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1793209" } ] }, { "id": "R-HSA-2160874", "name": "HYAL1 hydrolyses (HA)50", "equation": "", "summary": "In the acidic environment of the lysosome, hyaluronidase 1 (HYAL1) is able to hydrolyse large 20kDa HA fragments (approximately 50 disaccharide units) to 800 Da fragments (2 disaccharide units).", "cellular_location": "lysosomal lumen", "input_participant_list": [ "R-ALL-2160864" ], "output_participant_list": [ "R-ALL-2160866" ], "enzyme_list": [ "O43820-1", "Q12794-1" ], "evidence": [ { "id": "R-HSA-2160874", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160874" } ] } 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