{ "uniprot_canonical_ac": "O75631-1", "uniprot_ac": "O75631", "uniprot_id": "UPK3A_HUMAN", "mass": { "chemical_mass": 30670.0, "monoisotopic_mass": 30670.0 }, "refseq": { "ac": "NP_001161046", "name": "uroplakin-3a isoform 2 precursor", "summary": "This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" }, "gene_names": [ { "name": "UPK3A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75631", "id": "O75631" }, { "name": "UP3A; UPIII; UPIIIA; UPK3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046", "id": "NP_001161046" }, { "name": "UPK3A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046", "id": "NP_001161046" }, { "name": "UPK3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75631", "id": "O75631" } ], "protein_names": [ { "name": "Uroplakin-3a", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75631" }, { "name": "UP3a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75631" }, { "name": "UPIII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75631" }, { "name": "Uroplakin III", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75631" }, { "name": "uroplakin III; uroplakin-3a; uroplakin 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046", "id": "NP_001161046" }, { "name": "uroplakin-3a isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046", "id": "NP_001161046" } ], "function": [ { "annotation": "Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75631", "url": "https://www.uniprot.org/uniprot/O75631#function" } ] }, { "annotation": "High Expression of UPK3A Promotes the Progression of Gastric Cancer Cells by Inactivating p53 Pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" }, { "database": "PubMed", "id": "35774082", "url": "https://glygen.org/publication/PubMed/35774082" } ] }, { "annotation": "High expression level of preoperative serum Uroplakin III is associated with biologically aggressive bladder cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" }, { "database": "PubMed", "id": "25743828", "url": "https://glygen.org/publication/PubMed/25743828" } ] }, { "annotation": "Our results indicate that de novo mutations in UPIIIA can be involved in defective early kidney development, but probably constitute only a rare cause of human renal hypodysplasia in a minor subset of individuals [UPIIIA].", "evidence": [ { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" }, { "database": "PubMed", "id": "16731295", "url": "https://glygen.org/publication/PubMed/16731295" } ] }, { "annotation": "This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" } ] }, { "annotation": "UPIIIa is a biomarker for bladder cancer that is unrelated to chemical carcinogenesis Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" }, { "database": "PubMed", "id": "30069482", "url": "https://glygen.org/publication/PubMed/30069482" } ] }, { "annotation": "Uroplakin III and III-delta4 genes were significantly up-regulated only in patients with nonulcerative interstitial cystitis", "evidence": [ { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" }, { "database": "PubMed", "id": "17698128", "url": "https://glygen.org/publication/PubMed/17698128" } ] } ], "disease": [], "snv": [ { "evidence": [ { 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577806749" }, { "id": "rs577806749", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577806749" }, { "id": "rs577806749", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577806749" }, { "id": "rs577806749", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577806749" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 139, "end_pos": 139, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "22", "chr_pos": "45287379", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N139", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1363861118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363861118" }, { "id": "rs1363861118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363861118" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 141, "end_pos": 141, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGN).", "chr_id": "22", "chr_pos": "45287385", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T141", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201637156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201637156" }, { "id": "rs201637156", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201637156" }, { "id": "rs201637156", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201637156" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 141, "end_pos": 141, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGP).", "chr_id": "22", "chr_pos": "45287384", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T141", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377117898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377117898" }, { "id": "rs377117898", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377117898" }, { "id": "rs377117898", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377117898#frequency_tab" }, { "id": "rs377117898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377117898" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 155, "end_pos": 155, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "22", "chr_pos": "45287426", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377117898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377117898" }, { "id": "rs377117898", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377117898" }, { "id": "rs377117898", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377117898#frequency_tab" }, { "id": "rs377117898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377117898" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 155, "end_pos": 155, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAP->NAT).", "chr_id": "22", "chr_pos": "45287426", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746505529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746505529" }, { "id": "rs746505529", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746505529" }, { "id": "rs746505529", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746505529" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 170, "end_pos": 170, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMS->SMS).", "chr_id": "22", "chr_pos": "45289081", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1177155339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177155339" }, { "id": "rs1177155339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1177155339#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 178, "end_pos": 178, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQT->NQT).", "chr_id": "22", "chr_pos": "45289104", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1370151123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370151123" }, { "id": "rs1370151123", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1370151123#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 211, "end_pos": 211, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ITS->NTS).", "chr_id": "22", "chr_pos": "45293241", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150489974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150489974" }, { "id": "rs150489974", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150489974" }, { "id": "rs150489974", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150489974#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 35, "end_pos": 35, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "22", "chr_pos": "45285992", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202189234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202189234" }, { "id": "rs202189234", "database": "ExAC", "url": 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"TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202189234#frequency_tab" }, { "id": "rs202189234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202189234" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 76, "end_pos": 76, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAL).", "chr_id": "22", "chr_pos": "45287190", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S76", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "40.67", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "45.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "63.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "64.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "35.52", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "48.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75631", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75631" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", 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"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 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"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": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75631", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75631" } ], "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": 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{ "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": "O75631", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75631" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": 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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": "breast 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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": "O75631", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75631" } ], "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", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75631", "url": "https://www.uniprot.org/uniprot/O75631" } ], "common_name": "Human" } ], "gene": [ { "name": "UPK3A", "url": "https://www.uniprot.org/uniprot/O75631", "locus": { "chromosome": "22", "start_pos": 45295874, "end_pos": 45284949, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000100373", "url": "https://www.ensembl.org/id/ENSG00000100373" } ] } } ], "crossref": [ { "id": "ENSG00000100373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100373", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd09970", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09970", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "UPK3A", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=UPK3A", "database": "GeneCards", 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Uroplakin-3a OS=Homo sapiens OX=9606 GN=UPK3A PE=1 SV=3 CANONICAL=O75631-1" }, "isoforms": [ { "isoform_ac": "O75631-1", "url": "", "sequence": { "sequence": "MPPLWALLALGCLRFGSAVNLQPQLASVTFATNNPTLTTVALEKPLCMFDSKEALTGTHEVYLYVLVDSAISRNASVQDSTNTPLGSTFLQTEGGRTGPYKAVAFDLIPCSDLPSLDAIGDVSKASQILNAYLVRVGANGTCLWDPNFQGLCNAPLSAATEYRFKYVLVNMSTGLVEDQTLWSDPIRTNQLTPYSTIDTWPGRRSGGMIVITSILGSLPFFLLVGFAGAIALSLVDMGSSDGETTHDSQITQEAVPKSLGASESSYTSVNRGPPLDRAEVYSSKLQD", "length": 287, "header": "sp|O75631-1|UPK3A_HUMAN Isoform 1 of Uroplakin-3a OS=Homo sapiens OX=9606 GN=UPK3A PE=1 SV=3 CANONICAL=O75631-1" }, "locus": { "chromosome": "22", "start_pos": 45295716, "end_pos": 45285014, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000216211.9", "url": "https://www.ensembl.org/id/ENST00000216211.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000216211.4", "url": "https://www.ensembl.org/id/ENSP00000216211.4" } ] } }, { "isoform_ac": "O75631-2", "url": "", "sequence": { "sequence": "MPPLWALLALGCLRFGSAVNLQPQLASVTFATNNPTLTTVALEKPLCMFDSKEALTGTHEVYLYVLVDSVTPYSTIDTWPGRRSGGMIVITSILGSLPFFLLVGFAGAIALSLVDMGSSDGETTHDSQITQEAVPKSLGASESSYTSVNRGPPLDRAEVYSSKLQD", "length": 166, "header": "sp|O75631-2|UPK3A_HUMAN Isoform 2 of Uroplakin-3a OS=Homo sapiens OX=9606 GN=UPK3A PE=1 SV=3 CANONICAL=O75631-1" }, "locus": { "chromosome": "22", "start_pos": 45295716, "end_pos": 45285014, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396082.2", "url": "https://www.ensembl.org/id/ENST00000396082.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000379391.2", "url": "https://www.ensembl.org/id/ENSP00000379391.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 139, "start_aa": "Asn", "end_pos": 139, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn139", "evidence": [ { "id": "O75631", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75631#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 170, "start_aa": "Asn", "end_pos": 170, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn170", "evidence": [ { "id": "O75631", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75631#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "O75631", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75631#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 115, "end_pos": 115, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75631", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75631" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser115" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2005", "authors": "Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, Sun TT, Woolf AS", "evidence": [ { "database": "UniProtKB", "id": "O75631", "url": "https://www.uniprot.org/uniprot/O75631" } ], "reference": [ { "type": "PubMed", "id": "15888565", "url": "https://glygen.org/publication/PubMed/15888565" } ] }, { "title": "Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.", "journal": "American journal of kidney diseases : the official journal of the National Kidney Foundation", "date": "2006", "authors": "Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S", "evidence": [ { "database": "UniProtKB", "id": "O75631", "url": "https://www.uniprot.org/uniprot/O75631" }, { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" } ], "reference": [ { "type": "PubMed", "id": "16731295", "url": "https://glygen.org/publication/PubMed/16731295" } ] }, { "title": "Uroplakin III-delta4 messenger RNA as a promising marker to identify nonulcerative interstitial cystitis.", "journal": "The Journal of urology", "date": "2007", "authors": "Zeng Y, Wu XX, Homma Y, Yoshimura N, Iwaki H, Kageyama S, Yoshiki T, Kakehi Y", "evidence": [ { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" } ], "reference": [ { "type": "PubMed", "id": "17698128", "url": "https://glygen.org/publication/PubMed/17698128" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O75631-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75631-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "High expression level of preoperative serum Uroplakin III is associated with biologically aggressive bladder cancer.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2015", "authors": "Tsumura H, Matsumoto K, Ikeda M, Yanagita K, Hirano S, Hagiwara M, Nagashio R, Fujita T, Sato Y, Iwamura M", "evidence": [ { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" } ], "reference": [ { "type": "PubMed", "id": "25743828", "url": "https://glygen.org/publication/PubMed/25743828" } ] }, { "title": "Uroplakin IIIa Is a Marker in Bladder Cancer but Seems Not to Reflect Chemical Carcinogenesis.", "journal": "BioMed research international", "date": "2018", "authors": "Szymanska B, Matuszewski M, Dembowski J, Zdrojowy R, Dlugosz A", "evidence": [ { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" } ], "reference": [ { "type": "PubMed", "id": "30069482", "url": "https://glygen.org/publication/PubMed/30069482" } ] }, { "title": "High Expression of UPK3A Promotes the Progression of Gastric Cancer Cells by Inactivating p53 Pathway.", "journal": "Analytical cellular pathology (Amsterdam)", "date": "2022", "authors": "Xu D, Guo J, Xu H", "evidence": [ { "database": "RefSeq", "id": "NP_001161046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161046" } ], "reference": [ { "type": "PubMed", "id": "35774082", "url": "https://glygen.org/publication/PubMed/35774082" } ] }, { "title": "Expression of uroplakin Ib and uroplakin III genes in tissues and peripheral blood of patients with transitional cell carcinoma.", "journal": "Jpn. J. Cancer Res.", "date": "1998", "authors": "Yuasa T, Yoshiki T, Tanaka T, Kim CJ, Isono T, Okada Y", "evidence": [ { "database": "UniProtKB", "id": "O75631", "url": "https://www.uniprot.org/uniprot/O75631" } ], "reference": [ { "type": "PubMed", "id": "9818021", "url": "https://glygen.org/publication/PubMed/9818021" } ] }, { "title": "Uroplakin gene expression by normal and neoplastic human urothelium.", "journal": "Am. J. Pathol.", "date": "1998", "authors": "Lobban ED, Smith BA, Hall GD, Harnden P, Roberts P, Selby PJ, Trejdosiewicz LK, Southgate J", "evidence": [ { "database": "UniProtKB", "id": "O75631", "url": "https://www.uniprot.org/uniprot/O75631" } ], "reference": [ { "type": "PubMed", "id": "9846985", "url": "https://glygen.org/publication/PubMed/9846985" } ] } ], "pathway": [ { "id": "hsa:7380", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7380", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZZ76-1", "protein_name": "Uroplakin 3A", "gene_name": "Upk3a", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLLLWALLALGCLRCGWTVNLQPQLASVTFATNNPTLTTVALEKPLCMFDSSEPLSGAYEVYLYAMVDSAISWNVSVQDSTGAPLSTTFRQTQGGRSGPYKAVAFDLTPCGDLPSLDAVGDVTQASEILNAYLVRVGNNGTCFWDPNFQGLCNPPLTAATEYRFKYVLVNTSTGLVQDQTLWSDPIRTNRPSPYLAIDTWPGRRSGGMIVITSILGSLPFFLLVGFAGAIILSFVDMGSSDGETTHDSQITQEAVPKTLGASEPSYSSVNRAPPLDRAEVFSSKLQD", "length": 287 }, "evidence": [ { "id": "45936780", "url": "http://www.informatics.jax.org/homology/45936780", "database": "MGI" }, { "id": "O75631", "url": "https://omabrowser.org/oma/group/O75631/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9JKX8-1", "protein_name": "Uroplakin-3a", "gene_name": "Upk3a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLLLWALLALGCLRCGWTVNLQPQLASVTFATNNPTLTTVALEKPLCMFDSSEPLSGSYEVYLYAMVDSAMSRNVSVQDSAGVPLSTTFRQTQGGRSGPYKAAAFDLTPCGDLPSLDAVGDVTQASEILNAYLVRVGNNGTCFWDPNFQGLCNPPLTAATEYRFKYVLVNMSTGLVQDQTLWSDPIWTNRPIPYSAIDTWPGRRSGGMIVITSILGSLPFFLLVGFAGAIILSFVDMGSSDGEMTHDSQITQEAVPKTLGTSEPSYSSVNRGPPLDRAEVFSSKLQD", "length": 287 }, "evidence": [ { "id": "45936780", "url": "http://www.informatics.jax.org/homology/45936780", "database": "MGI" }, { "id": "O75631", "url": "https://omabrowser.org/oma/group/O75631/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular 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