{ "uniprot_canonical_ac": "O60637-1", "uniprot_ac": "O60637", "uniprot_id": "TSN3_HUMAN", "mass": { "chemical_mass": 28018.0, "monoisotopic_mass": 28018.0 }, "refseq": { "ac": "NP_001161884", "name": "tetraspanin-3 isoform 3", "summary": "The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Multiple alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Dec 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" }, "gene_names": [ { "name": "TSPAN3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60637", "id": "O60637" }, { "name": "TM4-A; TM4SF8; TSPAN-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884", "id": "NP_001161884" }, { "name": "TM4SF8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60637", "id": "O60637" }, { "name": "TSPAN3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884", "id": "NP_001161884" } ], "protein_names": [ { "name": "Tetraspanin-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60637" }, { "name": "Tetraspanin TM4-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60637" }, { "name": "Transmembrane 4 superfamily member 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60637" }, { "name": "Tspan-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60637" }, { "name": "tetraspan 3; transmembrane 4 superfamily member 8; tetraspanin TM4-A; tetraspan TM4SF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884", "id": "NP_001161884" }, { "name": "tetraspanin-3 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884", "id": "NP_001161884" } ], "function": [ { "annotation": "High TSPAN3 expression is associated with progression and chemoresistance in acute myeloid leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" }, { "database": "PubMed", "id": "31837329", "url": "https://glygen.org/publication/PubMed/31837329" } ] }, { "annotation": "Regulates the proliferation and migration of oligodendrocytes, a process essential for normal myelination and repair.", "evidence": [ { "database": "UniProtKB", "id": "O60637", "url": "https://www.uniprot.org/uniprot/O60637#function" } ] }, { "annotation": "Studies indicate that tetraspanin 3 has a critical role in acute myeloid leukemia. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" }, { "database": "PubMed", "id": "26930362", "url": "https://glygen.org/publication/PubMed/26930362" } ] }, { "annotation": "Study concluded that miR-139-5p suppressed the leukemogenesis in acute myeloid leukemia (AML) cells by targeting Tspan3 through inactivation of the PI3K/Akt pathway, providing a better understanding of AML progression.", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" }, { "database": "PubMed", "id": "30367526", "url": "https://glygen.org/publication/PubMed/30367526" } ] }, { "annotation": "The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Multiple alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Dec 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" } ] }, { "annotation": "Tspan3 is a central endocytic membrane component regulating the expression of ADAM10, presenilin and the amyloid precursor protein.", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" }, { "database": "PubMed", "id": "27818272", "url": "https://glygen.org/publication/PubMed/27818272" } ] }, { "annotation": "Tspan3 is an important regulator of aggressive leukemias.", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" }, { "database": "PubMed", "id": "26212080", "url": "https://glygen.org/publication/PubMed/26212080" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs762537436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762537436" }, { "id": "rs762537436", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762537436" }, { "id": "rs762537436", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762537436" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 127, "end_pos": 127, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->DGT).", "chr_id": "15", "chr_pos": "77054231", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs114741584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs114741584" }, { "id": "rs114741584", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs114741584" }, { "id": "rs114741584", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs114741584#frequency_tab" }, { "id": "rs114741584", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs114741584" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 127, "end_pos": 127, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->KGT).", "chr_id": "15", "chr_pos": "77054229", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60637", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60637" }, { "id": "rs370307435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370307435" }, { "id": "rs370307435", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370307435" }, { "id": "rs370307435", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370307435" }, { "id": "rs370307435", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370307435#frequency_tab" }, { "id": "rs370307435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370307435" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 127, "end_pos": 127, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "15", "chr_pos": "77054230", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N127", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs370307435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370307435" }, { "id": "rs370307435", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370307435" }, { "id": "rs370307435", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370307435#frequency_tab" }, { "id": "rs370307435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370307435" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 127, "end_pos": 127, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->TGT).", "chr_id": "15", "chr_pos": "77054230", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469579806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469579806" }, { "id": "rs1469579806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469579806" } ], "glycoeffect": [ 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746054335" }, { "id": "rs746054335", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746054335" }, { "id": "rs746054335", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746054335" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 185, "end_pos": 185, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGR).", "chr_id": "15", "chr_pos": "77052807", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S185", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140391", "url": 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"namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140391", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140391" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140391", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140391" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140391", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140391" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "97.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140391", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140391" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140391", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140391" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140391", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140391" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140391", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140391" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140391", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140391" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140391", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140391" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60637" } ], "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 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60637" } ], "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": "O60637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60637" } ], "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": 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77052429, "end_pos": 77046838, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558745.5", "url": "https://www.ensembl.org/id/ENST00000558745.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453868.1", "url": "https://www.ensembl.org/id/ENSP00000453868.1" } ] } }, { "isoform_ac": "O60637-1", "url": "", "sequence": { "sequence": "MGQCGITSSKTVLVFLNLIFWGAAGILCYVGAYVFITYDDYDHFFEDVYTLIPAVVIIAVGALLFIIGLIGCCATIRESRCGLATFVIILLLVFVTEVVVVVLGYVYRAKVENEVDRSIQKVYKTYNGTNPDAASRAIDYVQRQLHCCGIHNYSDWENTDWFKETKNQSVPLSCCRETASNCNGSLAHPSDLYAEGCEALVVKKLQEIMMHVIWAALAFAAIQLLGMLCACIVLCRRSRDPAYELLITGGTYA", "length": 253, "header": "sp|O60637-1|TSN3_HUMAN Isoform 1 of Tetraspanin-3 OS=Homo sapiens OX=9606 GN=TSPAN3 PE=2 SV=1 CANONICAL=O60637-1" }, "locus": { "chromosome": "15", "start_pos": 77070954, "end_pos": 77046838, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000267970.9", "url": "https://www.ensembl.org/id/ENST00000267970.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000267970.4", "url": "https://www.ensembl.org/id/ENSP00000267970.4" } ] } }, { "isoform_ac": "O60637-2", "url": "", "sequence": { "sequence": "MGQCGITSSKTVLVFLNLIFWGAAGILCYVGAYVFITYDDYDHFFEDVYTLIPAVVIIAVGALLFIIGLIGCCATIRESRCGLATVENEVDRSIQKVYKTYNGTNPDAASRAIDYVQRQLHCCGIHNYSDWENTDWFKETKNQSVPLSCCRETASNCNGSLAHPSDLYAEGCEALVVKKLQEIMMHVIWAALAFAAIQLLGMLCACIVLCRRSRDPAYELLITGGTYA", "length": 228, "header": "sp|O60637-2|TSN3_HUMAN Isoform 2 of Tetraspanin-3 OS=Homo sapiens OX=9606 GN=TSPAN3 PE=2 SV=1 CANONICAL=O60637-1" }, "locus": { "chromosome": "15", "start_pos": 77070954, "end_pos": 77046838, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000346495.6", "url": "https://www.ensembl.org/id/ENST00000346495.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000341329.2", "url": "https://www.ensembl.org/id/ENSP00000341329.2" } ] } }, { "isoform_ac": "O60637-3", "url": "", "sequence": { "sequence": "MGQCGITSSKTVLVFLNLIFWFVIILLLVFVTEVVVVVLGYVYRAKVENEVDRSIQKVYKTYNGTNPDAASRAIDYVQRQLHCCGIHNYSDWENTDWFKETKNQSVPLSCCRETASNCNGSLAHPSDLYAEGCEALVVKKLQEIMMHVIWAALAFAAIQLLGMLCACIVLCRRSRDPAYELLITGGTYA", "length": 189, "header": "sp|O60637-3|TSN3_HUMAN Isoform 3 of Tetraspanin-3 OS=Homo sapiens OX=9606 GN=TSPAN3 PE=2 SV=1 CANONICAL=O60637-1" }, "locus": { "chromosome": "15", "start_pos": 77070954, "end_pos": 77046838, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424443.7", "url": "https://www.ensembl.org/id/ENST00000424443.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000407243.3", "url": "https://www.ensembl.org/id/ENSP00000407243.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": 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"reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G46902YN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G48584BU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G66621EA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G72735IY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G74724QE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G82119TF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G84820NF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "710", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/710" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "O60637", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60637#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 173, "start_aa": "Ser", "end_pos": 173, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser173", "evidence": [ { "id": "O60637", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60637" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 183, "start_aa": "Asn", "end_pos": 183, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn183", "evidence": [ { "id": "O60637", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60637#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "O60637", "url": "https://www.uniprot.org/uniprot/O60637" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Glycoproteomic analysis of the secretome of human endothelial cells.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Yin X, Bern M, Xing Q, Ho J, Viner R, Mayr M", "evidence": [ { "database": "UniCarbKB", "id": "O60637", "url": "" }, { "database": "GlyConnect", "id": "710", "url": "https://glyconnect.expasy.org/browser/proteins/710" } ], "reference": [ { "type": "PubMed", "id": "23345538", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Tetraspanin 3 Is Required for the Development and Propagation of Acute Myelogenous Leukemia.", "journal": "Cell stem cell", "date": "2015", "authors": "Kwon HY, Bajaj J, Ito T, Blevins A, Konuma T, Weeks J, Lytle NK, Koechlein CS, Rizzieri D, Chuah C, Oehler VG, Sasik R, Hardiman G, Reya T", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" } ], "reference": [ { "type": "PubMed", "id": "26212080", "url": "https://glygen.org/publication/PubMed/26212080" } ] }, { "title": "Tetraspanins: Spanning from solid tumors to hematologic malignancies.", "journal": "Experimental hematology", "date": "2016", "authors": "Yang YG, Sari IN, Zia MF, Lee SR, Song SJ, Kwon HY", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" } ], "reference": [ { "type": "PubMed", "id": "26930362", "url": "https://glygen.org/publication/PubMed/26930362" } ] }, { "title": "Tetraspanin 3: A central endocytic membrane component regulating the expression of ADAM10, presenilin and the amyloid precursor protein.", "journal": "Biochimica et biophysica acta. Molecular cell research", "date": "2017", "authors": "Seipold L, Damme M, Prox J, Rabe B, Kasparek P, Sedlacek R, Altmeppen H, Willem M, Boland B, Glatzel M, Saftig P", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" } ], "reference": [ { "type": "PubMed", "id": "27818272", "url": "https://glygen.org/publication/PubMed/27818272" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "710", "url": "https://glyconnect.expasy.org/browser/proteins/710" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Tumor suppressor miR-139-5p targets Tspan3 and regulates the progression of acute myeloid leukemia through the PI3K/Akt pathway.", "journal": "Journal of cellular biochemistry", "date": "2019", "authors": "Zhang R, Tang P, Wang F, Xing Y, Jiang Z, Chen S, Meng X, Liu L, Cao W, Zhao H, Ma P, Chen Y, An C, Sun L", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" } ], "reference": [ { "type": "PubMed", "id": "30367526", "url": "https://glygen.org/publication/PubMed/30367526" } ] }, { "title": "LncRNA KCNQ1OT1 contributes to the progression and chemoresistance in acute myeloid leukemia by modulating Tspan3 through suppressing miR-193a-3p.", "journal": "Life sciences", "date": "2020", "authors": "Sun H, Sun Y, Chen Q, Xu Z", "evidence": [ { "database": "RefSeq", "id": "NP_001161884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161884" } ], "reference": [ { "type": "PubMed", "id": "31837329", "url": "https://glygen.org/publication/PubMed/31837329" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60637", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60637" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60637", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60637" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60637", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60637" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Sequences and expression of six new members of the tetraspanin/TM4SF family.", "journal": "Biochim. Biophys. Acta", "date": "1998", "authors": "Todd S C, Doctor V S, Levy S", "evidence": [ { "database": "UniProtKB", "id": "O60637", "url": "https://www.uniprot.org/uniprot/O60637" } ], "reference": [ { "type": "PubMed", "id": "9714763", "url": "https://glygen.org/publication/PubMed/9714763" } ] } ], "pathway": [ { "id": "hsa:10099", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10099", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q66H06-1", "protein_name": "Tetraspanin", "gene_name": "Tspan3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGQCGITSSKTVLVFLNLIFWGAAGILCYVGAYVFITYDDYDHFFEDVYTLFPAVVIMAVGALLFIIGLIGCCATIRESRCGLATFVFILLLVFVTEVVVVVLGYVYRAKVENEVDRSIQKVYKTYNGTNSDAASRAIDYVQRQLHCCGIHNYSDWENTDWFKETKNQSVPLSCCRETARSCNGSLANPSDLYAEGCEALVVKKLQEILMHVIWAALAFAAIQLLGMLCACIVLCRRSRDPAYELLITGGTYA", "length": 253 }, "evidence": [ { "id": "45929721", "url": "http://www.informatics.jax.org/homology/45929721", "database": "MGI" }, { "id": "O60637", "url": "https://omabrowser.org/oma/group/O60637/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9QY33-1", "protein_name": "Tetraspanin-3", "gene_name": "Tspan3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGQCGITSSKTVLVFLNLIFWGAAGILCYVGAYVFITYDDYDHFFEDVYTLFPAVVIIAVGALLFIIGLIGCCATIRESRCGLATFVFILLLVFVTEVVVVVLGYVYRAKVENEVDRSIQKVYKTYNGTNSDAASRAIDYVQRQLHCCGIHNYSDWENTDWFKETKNQSVPLSCCRETAKSCNGSLANPSDLYAEGCEALVVKKLQEILMHVIWAALAFAAIQLLGMLCACIVLCRRSRDPAYELLITGGTYA", "length": 253 }, "evidence": [ { "id": "45929721", "url": "http://www.informatics.jax.org/homology/45929721", "database": "MGI" }, { "id": "O60637", "url": "https://omabrowser.org/oma/group/O60637/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O60637", "url": "https://www.uniprot.org/uniprot/O60637" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O60637", "url": "https://www.uniprot.org/uniprot/O60637" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "tetraspanin-3 N-glycosylated 1 (human)", "definition": "A tetraspanin-3 (human) that has been N-glycosylated at the residue equivalent to Asn-127 of the amino acid sequence represented by UniProtKB:O60637-1, in which the glycan composition is represented by GlyTouCan:G65184UU. Example: UniProtKB:O60637-1, Asn-127, MOD:00160~GNO:G65184UU. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000050794", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050794" } ] } ], "site_annotation": [ { "start_pos": 127, "end_pos": 129, "annotation": "n_glycosylation_sequon" }, { "start_pos": 152, "end_pos": 154, "annotation": "n_glycosylation_sequon" }, { "start_pos": 167, "end_pos": 169, "annotation": "n_glycosylation_sequon" }, { "start_pos": 183, "end_pos": 185, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "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": [ 127, 130, 152, 158, 167, 183 ], "o_linked_sites": [ 173 ], "snv_sites": [ 127, 152, 154, 163, 185 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 127, "end_pos": 129 }, { "start_pos": 152, "end_pos": 154 }, { "start_pos": 167, "end_pos": 169 }, { "start_pos": 183, "end_pos": 185 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 28 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 21 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "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": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 22 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 21 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 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": "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": 7 }, { "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" ] } ] }