{ "uniprot_canonical_ac": "O00219-1", "uniprot_ac": "O00219", "uniprot_id": "HYAS3_HUMAN", "mass": { "chemical_mass": 62998.0, "monoisotopic_mass": 62998.0 }, "refseq": { "ac": "NP_001186209", "name": "hyaluronan synthase 3 isoform a", "summary": "The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" }, "gene_names": [ { "name": "HAS3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00219", "id": "O00219" }, { "name": "HAS3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209", "id": "NP_001186209" } ], "protein_names": [ { "name": "Hyaluronan synthase 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00219" }, { "name": "2.4.1.212", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00219" }, { "name": "HA synthase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00219" }, { "name": "Hyaluronate synthase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00219" }, { "name": "Hyaluronic acid synthase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00219" }, { "name": "hyaluronan synthase 3 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209", "id": "NP_001186209" }, { "name": "hyaluronic acid synthase 3; HA synthase 3; hyaluronate synthase 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209", "id": "NP_001186209" } ], "function": [ { "annotation": "4-Methylumebelliferone Enhances Radiosensitizing Effects of Radioresistant Oral Squamous Cell Carcinoma Cells via Hyaluronan Synthase 3 Suppression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" }, { "database": "PubMed", "id": "36497040", "url": "https://glygen.org/publication/PubMed/36497040" } ] }, { "annotation": "A Connecting Link between Hyaluronan Synthase 3-Mediated Hyaluronan Production and Epidermal Function. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" }, { "database": "PubMed", "id": "35269567", "url": "https://glygen.org/publication/PubMed/35269567" } ] }, { "annotation": "Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of three isoenzymes responsible for cellular hyaluronan synthesis.", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219#function" }, { "database": "PubMed", "id": "26883802", "url": "https://glygen.org/publication/PubMed/26883802" }, { "database": "PubMed", "id": "25795779", "url": "https://glygen.org/publication/PubMed/25795779" }, { "database": "PubMed", "id": "23303191", "url": "https://glygen.org/publication/PubMed/23303191" } ] }, { "annotation": "Endothelial Hyaluronan Synthase 3 Augments Postischemic Arteriogenesis Through CD44/eNOS Signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" }, { "database": "PubMed", "id": "34380333", "url": "https://glygen.org/publication/PubMed/34380333" } ] }, { "annotation": "Hyaluronan synthase 3 is protective after cardiac ischemia-reperfusion by preserving the T cell response.", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" }, { "database": "PubMed", "id": "35998871", "url": "https://glygen.org/publication/PubMed/35998871" } ] }, { "annotation": "The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" } ] }, { "annotation": "The regulation of HAS3 by miR-10b and miR-29a in neuroendocrine transdifferentiated LNCaP prostate cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" }, { "database": "PubMed", "id": "31948751", "url": "https://glygen.org/publication/PubMed/31948751" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1567581715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567581715" }, { "id": "rs1567581715", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567581715" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 251, "end_pos": 251, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YDS->NDS).", "chr_id": "16", "chr_pos": "69114355", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00219", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00219" } ], "glycoeffect": [], "start_pos": 330, "end_pos": 330, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "69114593", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R330", "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": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769040997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769040997" }, { "id": "rs769040997", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769040997" }, { "id": "rs769040997", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769040997" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 42, "end_pos": 42, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YLS->NLS).", "chr_id": "16", "chr_pos": "69109519", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1055002524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1055002524" }, { "id": "rs1055002524", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1055002524#frequency_tab" 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"69114988", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N462", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753117110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753117110" }, { "id": "rs753117110", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753117110" }, { "id": "rs753117110", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753117110" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 479, "end_pos": 479, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "16", "chr_pos": "69115040", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I479", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781556727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781556727" }, { "id": "rs781556727", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781556727" }, { "id": "rs781556727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781556727" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 506, "end_pos": 506, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SET->NET).", "chr_id": "16", "chr_pos": "69115121", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S506", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "61.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103044", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103044" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "72.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103044", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103044" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "69.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103044", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103044" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "64.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103044", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103044" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "71.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103044", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103044" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103044", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103044" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103044", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103044" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": 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"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", 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"" }, { "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, 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"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", 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00219", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00219" } ], "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", 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"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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00219", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00219" } ], "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 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"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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00219" } ], "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": 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"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 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}, { "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": 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"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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00219", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00219" } ], "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": "O00219", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00219" } ], "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "common_name": "Human" } ], "gene": [ { "name": "HAS3", "url": "https://www.uniprot.org/uniprot/O00219", "locus": { "chromosome": "16", "start_pos": 69118719, "end_pos": 69105653, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000103044", "url": "https://www.ensembl.org/id/ENSG00000103044" } ] } } ], "crossref": [ { "id": "ENSG00000103044", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103044", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00219", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00219", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "2.4.1.212", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.4.1.212&UniProtAcc=O00219", "database": 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"InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3038", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3038", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602428", "url": "http://www.omim.org/entry/602428", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00219", "url": "https://www.nextprot.org/entry/NX_O00219", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O00219", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00219", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "DVIVPCF", "url": "https://omabrowser.org/oma/group/DVIVPCF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1361850at2759", "url": "http://www.orthodb.org/?query=1361850at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22913", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22913", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22913:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22913:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13641", "url": "http://pfam.xfam.org/family/PF13641", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00219", "url": "https://pharos.nih.gov/targets/O00219", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00219", "url": "http://purl.obolibrary.org/obo/PR_O00219", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2142850", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142850", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "12528", "url": "https://www.rhea-db.org/rhea/12528", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "20465", "url": "https://www.rhea-db.org/rhea/20465", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "H3BRH5", "url": "https://www.uniprot.org/uniprot/H3BRH5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BRH5-1", "url": "https://www.uniprot.org/uniprot/H3BRH5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00219-1", "url": "https://www.uniprot.org/uniprot/O00219-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00219-2", "url": "https://www.uniprot.org/uniprot/O00219-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPVQLTTALRVVGTSLFALAVLGGILAAYVTGYQFIHTEKHYLSFGLYGAILGLHLLIQSLFAFLEHRRMRRAGQALKLPSPRRGSVALCIAAYQEDPDYLRKCLRSAQRISFPDLKVVMVVDGNRQEDAYMLDIFHEVLGGTEQAGFFVWRSNFHEAGEGETEASLQEGMDRVRDVVRASTFSCIMQKWGGKREVMYTAFKALGDSVDYIQVCDSDTVLDPACTIEMLRVLEEDPQVGGVGGDVQILNKYDSWISFLSSVRYWMAFNVERACQSYFGCVQCISGPLGMYRNSLLQQFLEDWYHQKFLGSKCSFGDDRHLTNRVLSLGYRTKYTARSKCLTETPTKYLRWLNQQTRWSKSYFREWLYNSLWFHKHHLWMTYESVVTGFFPFFLIATVIQLFYRGRIWNILLFLLTVQLVGIIKATYACFLRGNAEMIFMSLYSLLYMSSLLPAKIFAIATINKSGWGTSGRKTIVVNFIGLIPVSIWVAVLLGGLAYTAYCQDLFSETELAFLVSGAILYGCYWVALLMLYLAIIARRCGKKPEQYSLAFAEV", "length": 553, "header": "sp|O00219-1|HYAS3_HUMAN Isoform 1 of Hyaluronan synthase 3 OS=Homo sapiens OX=9606 GN=HAS3 PE=1 SV=3 CANONICAL=O00219-1" }, "isoforms": [ { "isoform_ac": "H3BRH5-1", "url": "", "sequence": { "sequence": "MPVQLTTALRVVGTSLFALAVLGGILAAYVTGYQFIHTEKHYLSFGLYGAILGLHLLIQSLFAFLEHRRMRRAGQALKLPSPRRGSVALCIAAYQEDPDYLRKCLRSAQRISFPDLKVVMVVDGNRQEDAYMLDIFHEVLGGTEQAGFFVWRSNFHEAGEGETEASLQEGMDRVRDVVRASTFSCIMQKWGGKREVMYTAFKALGDSVDYIQVCDSDTVLDPACTIEMLRVLEEDPQVGGVGGDVQILNKYDSWISFLSSVRYW", "length": 264, "header": "tr|H3BRH5-1|H3BRH5_HUMAN Computationally mapped isoform of hyaluronan synthase OS=Homo sapiens OX=9606 GN=HAS3 PE=1 SV=1 CANONICAL=O00219-1" }, "locus": { "chromosome": "16", "start_pos": 69114396, "end_pos": 69109396, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566118.5", "url": "https://www.ensembl.org/id/ENST00000566118.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456246.1", "url": "https://www.ensembl.org/id/ENSP00000456246.1" } ] } }, { "isoform_ac": "O00219-1", "url": "", "sequence": { "sequence": "MPVQLTTALRVVGTSLFALAVLGGILAAYVTGYQFIHTEKHYLSFGLYGAILGLHLLIQSLFAFLEHRRMRRAGQALKLPSPRRGSVALCIAAYQEDPDYLRKCLRSAQRISFPDLKVVMVVDGNRQEDAYMLDIFHEVLGGTEQAGFFVWRSNFHEAGEGETEASLQEGMDRVRDVVRASTFSCIMQKWGGKREVMYTAFKALGDSVDYIQVCDSDTVLDPACTIEMLRVLEEDPQVGGVGGDVQILNKYDSWISFLSSVRYWMAFNVERACQSYFGCVQCISGPLGMYRNSLLQQFLEDWYHQKFLGSKCSFGDDRHLTNRVLSLGYRTKYTARSKCLTETPTKYLRWLNQQTRWSKSYFREWLYNSLWFHKHHLWMTYESVVTGFFPFFLIATVIQLFYRGRIWNILLFLLTVQLVGIIKATYACFLRGNAEMIFMSLYSLLYMSSLLPAKIFAIATINKSGWGTSGRKTIVVNFIGLIPVSIWVAVLLGGLAYTAYCQDLFSETELAFLVSGAILYGCYWVALLMLYLAIIARRCGKKPEQYSLAFAEV", "length": 553, "header": "sp|O00219-1|HYAS3_HUMAN Isoform 1 of Hyaluronan synthase 3 OS=Homo sapiens OX=9606 GN=HAS3 PE=1 SV=3 CANONICAL=O00219-1" }, "locus": { "chromosome": "16", "start_pos": 69115263, "end_pos": 69109396, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569188.6", "url": "https://www.ensembl.org/id/ENST00000569188.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000454731.1", "url": "https://www.ensembl.org/id/ENSP00000454731.1" } ] } }, { "isoform_ac": "O00219-2", "url": "", "sequence": { "sequence": "MPVQLTTALRVVGTSLFALAVLGGILAAYVTGYQFIHTEKHYLSFGLYGAILGLHLLIQSLFAFLEHRRMRRAGQALKLPSPRRGSVALCIAAYQEDPDYLRKCLRSAQRISFPDLKVVMVVDGNRQEDAYMLDIFHEVLGGTEQAGFFVWRSNFHEAGEGETEASLQEGMDRVRDVVRASTFSCIMQKWGGKREVMYTAFKALGDSVDYIQVCDSDTVLDPACTIEMLRVLEEDPQVGGVGGDVQPPGKGMAVEDDQVQAAQVRATEAWSVHQRHVSREQ", "length": 281, "header": "sp|O00219-2|HYAS3_HUMAN Isoform 2 of Hyaluronan synthase 3 OS=Homo sapiens OX=9606 GN=HAS3 PE=1 SV=3 CANONICAL=O00219-1" }, "locus": { "chromosome": "16", "start_pos": 69118459, "end_pos": 69109396, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000219322.7", "url": "https://www.ensembl.org/id/ENST00000219322.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000219322.3", "url": "https://www.ensembl.org/id/ENSP00000219322.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 462, "start_aa": "Asn", "end_pos": 462, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn462", "evidence": [ { "id": "O00219", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00219#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00219", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00219" }, { "id": "26883802", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26883802" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Hyaluronan export by the ABC transporter MRP5 and its modulation by intracellular cGMP.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Schulz T, Schumacher U, Prehm P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142850", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142850" } ], "reference": [ { "type": "PubMed", "id": "17540771", "url": "https://glygen.org/publication/PubMed/17540771" } ] }, { "title": "Hyaluronan synthase 1 (HAS1) requires higher cellular UDP-GlcNAc concentration than HAS2 and HAS3.", "journal": "The Journal of biological chemistry", "date": "2013-02-22", "authors": "Rilla Kirsi, Oikari Sanna, Jokela Tiina A, Hyttinen Juha M T, K\u00e4rn\u00e4 Riikka, Tammi Raija H, Tammi Markku I", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "reference": [ { "type": "PubMed", "id": "23303191", "url": "https://glygen.org/publication/PubMed/23303191" } ] }, { "title": "KIAA1199, a deafness gene of unknown function, is a new hyaluronan binding protein involved in hyaluronan depolymerization.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Yoshida H, Nagaoka A, Kusaka-Kikushima A, Tobiishi M, Kawabata K, Sayo T, Sakai S, Sugiyama Y, Enomoto H, Okada Y, Inoue S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142850", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142850" } ], "reference": [ { "type": "PubMed", "id": "23509262", "url": "https://glygen.org/publication/PubMed/23509262" } ] }, { "title": "Fluorescence resonance energy transfer (FRET) and proximity ligation assays reveal functionally relevant homo- and heteromeric complexes among hyaluronan synthases HAS1, HAS2, and HAS3.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Bart G, Vico NO, Hassinen A, Pujol FM, Deen AJ, Ruusala A, Tammi RH, Squire A, Heldin P, Kellokumpu S, Tammi MI", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "reference": [ { "type": "PubMed", "id": "25795779", "url": "https://glygen.org/publication/PubMed/25795779" } ] }, { "title": "UDP-sugar substrates of HAS3 regulate its O-GlcNAcylation, intracellular traffic, extracellular shedding and correlate with melanoma progression.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2016", "authors": "Deen AJ, Arasu UT, Pasonen-Seppanen S, Hassinen A, Takabe P, Wojciechowski S, Karna R, Rilla K, Kellokumpu S, Tammi R, Tammi M, Oikari S", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" }, { "database": "O-GlcNAc Database", "id": "O00219", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00219" } ], "reference": [ { "type": "PubMed", "id": "26883802", "url": "https://glygen.org/publication/PubMed/26883802" } ] }, { "title": "Effects of mutations in the post-translational modification sites on the trafficking of hyaluronan synthase 2 (HAS2).", "journal": "Matrix Biol.", "date": "2019", "authors": "Melero-Fernandez de Mera RM, Arasu UT, Karna R, Oikari S, Rilla K, Vigetti D, Passi A, Heldin P, Tammi MI, Deen AJ", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "reference": [ { "type": "PubMed", "id": "30394292", "url": "https://glygen.org/publication/PubMed/30394292" } ] }, { "title": "The regulation of HAS3 by miR-10b and miR-29a in neuroendocrine transdifferentiated LNCaP prostate cancer cells.", "journal": "Biochemical and biophysical research communications", "date": "2020", "authors": "Czyrnik ED, Wiesehofer M, Dankert JT, Wennemuth G", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" } ], "reference": [ { "type": "PubMed", "id": "31948751", "url": "https://glygen.org/publication/PubMed/31948751" } ] }, { "title": "Endothelial Hyaluronan Synthase 3 Augments Postischemic Arteriogenesis Through CD44/eNOS Signaling.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2021", "authors": "Schneckmann R, Suvorava T, Hundhausen C, Schuler D, Lorenz C, Freudenberger T, Kelm M, Fischer JW, Flogel U, Grandoch M", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" } ], "reference": [ { "type": "PubMed", "id": "34380333", "url": "https://glygen.org/publication/PubMed/34380333" } ] }, { "title": "A Connecting Link between Hyaluronan Synthase 3-Mediated Hyaluronan Production and Epidermal Function.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Ota Y, Yoshida H, Endo Y, Sayo T, Takahashi Y", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" } ], "reference": [ { "type": "PubMed", "id": "35269567", "url": "https://glygen.org/publication/PubMed/35269567" } ] }, { "title": "Hyaluronan synthase 3 is protective after cardiac ischemia-reperfusion by preserving the T cell response.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2022", "authors": "Piroth M, Gorski DJ, Hundhausen C, Petz A, Gorressen S, Semmler D, Zabri H, Hartwig S, Lehr S, Kelm M, Jung C, Fischer JW", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" } ], "reference": [ { "type": "PubMed", "id": "35998871", "url": "https://glygen.org/publication/PubMed/35998871" } ] }, { "title": "4-Methylumebelliferone Enhances Radiosensitizing Effects of Radioresistant Oral Squamous Cell Carcinoma Cells via Hyaluronan Synthase 3 Suppression.", "journal": "Cells", "date": "2022-11-25", "authors": "Hasegawa Kazuki, Saga Ryo, Ohuchi Kentaro, Kuwahara Yoshikazu, Tomita Kazuo, Okumura Kazuhiko, Sato Tomoaki, Fukumoto Manabu, Tsuruga Eichi, Hosokawa Yoichiro", "evidence": [ { "database": "RefSeq", "id": "NP_001186209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186209" } ], "reference": [ { "type": "PubMed", "id": "36497040", "url": "https://glygen.org/publication/PubMed/36497040" } ] }, { "title": "Molecular identification of a putative human hyaluronan synthase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Watanabe K, Yamaguchi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142850", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142850" } ], "reference": [ { "type": "PubMed", "id": "8798477", "url": "https://glygen.org/publication/PubMed/8798477" } ] }, { "title": "Functional cloning of the cDNA for a human hyaluronan synthase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Shyjan AM, Heldin P, Butcher EC, Yoshino T, Briskin MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142850", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142850" } ], "reference": [ { "type": "PubMed", "id": "8798544", "url": "https://glygen.org/publication/PubMed/8798544" } ] }, { "title": "Molecular cloning and characterization of a cDNA encoding the third putative mammalian hyaluronan synthase.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Spicer AP, Olson JS, McDonald JA", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" }, { "database": "Reactome", "id": "R-HSA-2142850", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142850" } ], "reference": [ { "type": "PubMed", "id": "9083017", "url": "https://glygen.org/publication/PubMed/9083017" } ] } ], "pathway": [ { "id": "hsa:3038", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3038", "resource": "KEGG Pathway" }, { "id": "R-HSA-2142850", "name": "Hyaluronan biosynthesis and export", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142850", "resource": "Reactome", "description": "Hyaluronan biosynthesis and export" } ], "orthologs": [ { "uniprot_canonical_ac": "O08650-1", "protein_name": "Hyaluronan synthase 3", "gene_name": "Has3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPVQLTTALRVVGTSLFALVVLGGILAAYVTGYQFIHTEKHYLSFGLYGAILGLHLLIQSLFAFLEHRRMRRAGRPLKLHCSQRPRSVALCIAAYQEDPEYLRKCLRSAQRIAFPNLKVVMVVDGNRQEDTYMLDIFHEVLGGTEQAGFFVWRSNFHEAGEGETEASLQEGMERVRAVVWASTFSCIMQKWGGKREVMYTAFKALGNSVDYIQVCDSDTVLDPACTIEMLRVLEEDPQVGGVGGDVQILNKYDSWISFLSSVRYWMAFNVERACQSYFGCVQCISGPLGMYRNSLLQQFLEDWYHQKFLGSKCSFGDDRHLTNRVLSLGYRTKYTARSKCLTETPTRYLRWLNQQTRWSKSYFREWLYNSLWFHKHHLWMTYESVVTGFFPFFLIATVIQLFYRGRIWNILLFLLTVQLVGIIKATYACFLRGNAEMIFMSLYSLLYMSSLLPAKIFAIATINKSGWGTSGRKTIVVNFIGLIPVSIWVAVLLGGLAYTAYCQDLFSETELAFLVSGAILYGCYWVALLMLYLAIIARRCGKKPEQYSLAFAEV", "length": 554 }, "evidence": [ { "id": "45917650", "url": "http://www.informatics.jax.org/homology/45917650", "database": "MGI" }, { "id": "O00219", "url": "https://omabrowser.org/oma/group/O00219/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q8CH92-1", "protein_name": "hyaluronan synthase", "gene_name": "Has3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPVQLTTALRVVGTSLFALVVLGGILAAYVTGYQFIHTEKHYLSFGLYGAILGLHLLIQSLFAFLEHRRMRRAGRPLKLHCSQRRRSVALCIAAYQEDPEYLRKCLRSAQRIAFPNLKVVMVVDGNRQEDAYMLDIFHEVLGGTEQAGFFVWRSNFHEAGEGETEASLQEGMERVRAVVWASTFSCIMQKWGGKREVMYTAFKALGNSVDYIQVCDSDTVLDPACTIEMLRVLEEDPQVGGVGGDVQILNKYDSWISFLSSVRYWMAFNVERACQSYFGCVQCISGPLGMYRNSLLQQFLEDWYHQKFLGSKCSFGDDRHLTNRVLSLGYRTKYTARSKCLTETPTKYLRWLNQQTRWSKSYFREWLYNSLWFHKHHLWMTYESVVTGFFPFFLIATVIQLFYRGRIWNILLFLLTVQLVGIIKATYACFLRGNAEMIFMSLYSLLYMSSLLPAKIFAIATINKSGWGTSGRKTIVVNFIGLIPVSIWVAVLLGGLAYTAYCQDLFSETELAFLVSGAILYGCYWVALLMLYLAIIARRCGKKPEQYSLAFAEV", "length": 554 }, "evidence": [ { "id": "45917650", "url": "http://www.informatics.jax.org/homology/45917650", "database": "MGI" }, { "id": "O00219", "url": "https://omabrowser.org/oma/group/O00219/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "extracellular matrix assembly", "id": "GO:0085029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085029", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "extracellular polysaccharide biosynthetic process", "id": "GO:0045226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045226", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "positive regulation of hyaluranon cable assembly", "id": "GO:1900106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900106", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "hyaluronan biosynthetic process", "id": "GO:0030213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030213", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "hyaluranon cable", "id": "GO:0036117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036117", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" }, { "name": "hyaluronan synthase activity", "id": "GO:0050501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050501", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 462, "end_pos": 464, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "O-GlcNAcylation increases the hyaluronan synthase activity, HAS3 stability and its plasma membrane residence. The concentration of UDP-GlcNAc controls the level of O-GlcNAc modification.", "evidence": [ { "database": "UniProtKB", "id": "O00219", "url": "https://www.uniprot.org/uniprot/O00219" }, { "database": "PubMed", "id": "26883802", "url": "https://glygen.org/publication/PubMed/26883802" } ] } ], "interactions": [], "reactions": [ { "id": "12528", "name": "", "equation": "N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP-alpha-D-glucuronate = [hyaluronan](n+1) + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35776-1", "Q92839-1", "O00219-1", "Q92819-1", "P70312-1", "Q61647-1", "O08650-1" ], "evidence": [ { "id": "12528", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12528" } ] }, { "id": "20465", "name": "", "equation": "[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35776-1", "Q92839-1", "O00219-1", "Q92819-1", "P70312-1", "Q61647-1", "O08650-1" ], "evidence": [ { "id": "20465", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/20465" } ] }, { "id": "R-HSA-2160851", "name": "HAS1,2,3 mediate the polymerization of HA", "equation": "", "summary": "The integral membrane dual-action glycosyltransferase proteins hyaluronan synthases 1-3 (HAS1-3) (Shyjan et al. 1996, Watanabe & Yamaguchi 1996, Spicer et al. 1997 respectively) mediate the polymerization of glucuronic acid (GlcA) with N-acetylglucosamine (GlcNAc) to form hyaluronan (HA). The resulting polymer has the arrangement [-4GlcA-1,3GlcNAc-]n and can be as large as 10 miilion Da.", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [ "R-ALL-2142867" ], "output_participant_list": [], "enzyme_list": [ "O00219-1", "Q92819-1", "Q92839-1" ], "evidence": [ { "id": "R-HSA-2160851", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160851" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-2142867", "participant_name": "GlcA-b1,3-GlcNAc [cytosol]", "crossref": [ { "id": "000031371284", "database": "ZINC", "url": "" }, { "id": "000031371287", "database": "ZINC", "url": "" }, { "id": "64024", "database": "ChEBI", "url": "" }, { "id": "G35674CY", "database": "GlyTouCan", "url": "" }, { "id": "64024", "database": "ChEBI", "url": "" }, { "id": "G35674CY", "database": "GlyTouCan", "url": "" }, { "id": "000031371284", "database": "ZINC", "url": "" }, { "id": "000031371287", "database": "ZINC", "url": "" }, { "id": "64024", "database": "ChEBI", "url": "" }, { "id": "G35674CY", "database": "GlyTouCan", "url": "" }, { "id": "000031371284", "database": "ZINC", "url": "" }, { "id": "000031371287", "database": "ZINC", "url": "" }, { "id": "000031371284", "database": "ZINC", "url": "" }, { "id": "000031371287", "database": "ZINC", "url": "" }, { "id": "64024", "database": "ChEBI", "url": "" }, { "id": "G35674CY", "database": "GlyTouCan", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00219", "gene_name": "HAS3", "activity": [ { "ec_number": "2.4.1.212", "activity": "[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP.", "evidence": [ { "id": "O00219", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00219" } ] }, { "ec_number": "2.4.1.212", "activity": "", "evidence": [ { "id": "O00219", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00219" } ] } ] }, { "uniprot_ac": "O08650", "gene_name": "Has3", "activity": [ { "ec_number": "2.4.1.212", "activity": "[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP.", "evidence": [ { "id": "O08650", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08650" } ] }, { "ec_number": "2.4.1.212", "activity": "", "evidence": [ { "id": "O08650", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08650" } ] } ] }, { "uniprot_ac": "O35776", "gene_name": "Has2", "activity": [ { "ec_number": "2.4.1.212", "activity": "[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP.", "evidence": [ { "id": "O35776", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35776" } ] }, { "ec_number": "2.4.1.212", "activity": "", "evidence": [ { "id": "O35776", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35776" } ] } ] }, { "uniprot_ac": "P70312", "gene_name": "Has2", "activity": [ { "ec_number": "2.4.1.212", "activity": "[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP.", "evidence": [ { "id": "P70312", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70312" } ] }, { "ec_number": "2.4.1.212", "activity": "", "evidence": [ { "id": "P70312", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70312" } ] } ] }, { "uniprot_ac": "Q61647", "gene_name": "Has1", "activity": [ { "ec_number": "2.4.1.212", "activity": "[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP.", "evidence": [ { "id": "Q61647", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61647" } ] }, { "ec_number": "2.4.1.212", "activity": "", "evidence": [ { "id": "Q61647", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61647" } ] } ] }, { "uniprot_ac": "Q92819", "gene_name": "HAS2", "activity": [ { "ec_number": "2.4.1.212", "activity": "[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP.", "evidence": [ { "id": "Q92819", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92819" } ] }, { "ec_number": "2.4.1.212", "activity": "", "evidence": [ { "id": "Q92819", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92819" } ] } ] }, { "uniprot_ac": "Q92839", "gene_name": "HAS1", "activity": [ { "ec_number": "2.4.1.212", "activity": "[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP.", "evidence": [ { "id": "Q92839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92839" } ] }, { "ec_number": "2.4.1.212", "activity": "", "evidence": [ { "id": "Q92839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92839" } ] } ] } ], "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": [ 462 ], "o_linked_sites": [], "snv_sites": [ 42, 251, 330, 462, 479, 506 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 462, "end_pos": 464 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "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": 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_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "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_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": 7 }, { "field": "total_sites", "count": 6 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 6 }, { "field": "total_sites", "count": 5 } ], "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": 14 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }