[ { "uniprot_canonical_ac": "P98161-1", "uniprot_ac": "P98161", "uniprot_id": "PKD1_HUMAN", "mass": { "chemical_mass": 462529.0, "monoisotopic_mass": 462529.0 }, "refseq": { "ac": "NP_001009944", "name": "polycystin-1 isoform 1 precursor", "summary": "This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" }, "gene_names": [ { "name": "PKD1", "type": "recommended", "evidence": [ { "id": "P98161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98161" } ] }, { "name": "PBP", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] }, { "name": "PC1", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] }, { "name": "PKD1", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] }, { "name": "Pc-1", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] }, { "name": "TRPP1", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] }, { "name": "eliosin", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] } ], "protein_names": [ { "name": "Polycystin-1", "type": "recommended", "evidence": [ { "id": "P98161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98161/entry#names_and_taxonomy" } ] }, { "name": "Autosomal dominant polycystic kidney disease 1 protein", "type": "synonym", "evidence": [ { "id": "P98161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98161/entry#names_and_taxonomy" } ] }, { "name": "PC1", "type": "synonym", "evidence": [ { "id": "P98161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98161/entry#names_and_taxonomy" } ] }, { "name": "autosomal dominant polycystic kidney disease 1 protein", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] }, { "name": "polycystic kidney disease 1 (autosomal dominant)", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] }, { "name": "polycystic kidney disease-associated protein", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] }, { "name": "polycystin-1 isoform 1 precursor", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] }, { "name": "polycystin-1", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] }, { "name": "transient receptor potential cation channel, subfamily P, member 1", "type": "synonym", "evidence": [ { "id": "NP_001009944", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] } ], "function": [ { "annotation": "A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001009944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" }, { "database": "PubMed", "id": "38552045", "url": "https://glygen.org/publication/PubMed/38552045" } ] }, { "annotation": "Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activity (PubMed:27214281). Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions. Likely to be involved with polycystin-1-interacting protein 1 in the detection, sequestration and exocytosis of senescent mitochondria (PubMed:37681898).", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161#function" }, { "database": "PubMed", "id": "12482949", "url": "https://glygen.org/publication/PubMed/12482949" }, { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852#function" }, { "database": "PubMed", "id": "27214281", "url": "https://glygen.org/publication/PubMed/27214281" }, { "database": "PubMed", "id": "37681898", "url": "https://glygen.org/publication/PubMed/37681898" } ] }, { "annotation": "Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001009944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" }, { "database": "PubMed", "id": "38527221", "url": "https://glygen.org/publication/PubMed/38527221" } ] }, { "annotation": "PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001009944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" }, { "database": "PubMed", "id": "38194940", "url": "https://glygen.org/publication/PubMed/38194940" } ] }, { "annotation": "Plays a role in mitochondrial dynamics. In immortalized renal cyst cells, converts fragmented mitochondria to a filamentous shape.", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161#function" }, { "database": "PubMed", "id": "41166294", "url": "https://glygen.org/publication/PubMed/41166294" } ] }, { "annotation": "This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001009944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ] } ], "disease": [ { "disease_id": "DOID:0050770", "recommended_name": { "id": "DOID:0050770", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050770", "name": "polycystic liver disease", "description": "A liver disease that is characterized by the presence of multiple cysts located_in the liver." }, "synonyms": [ { "id": "DOID:0050770", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050770", "name": "congenital cystic liver disease", "description": "" }, { "id": "DOID:0050770", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050770", "name": "congenital hepatic cyst", "description": "" }, { "id": "DOID:0050770", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050770", "name": "fibrocystic liver disease", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050770" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] }, { "disease_id": "DOID:0110861", "recommended_name": { "id": "DOID:0110861", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion." }, "synonyms": [ { "id": "DOID:0110861", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110861", "name": "AR-PKD", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ] }, { "disease_id": "DOID:10941", "recommended_name": { "id": "DOID:10941", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10941", "name": "intracranial aneurysm", "description": "" }, "synonyms": [ { "id": "DOID:10941", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10941", "name": "brain aneurysm", "description": "" } ], "unlinked_id_list": [ "DOID:0060228" ], "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ] }, { "disease_id": "DOID:11984", "recommended_name": { "id": "DOID:11984", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause." }, "synonyms": [ { "id": "DOID:11984", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11984", "name": "hypertrophic obstructive cardiomyopathy", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ] }, { "disease_id": "DOID:898", "recommended_name": { "id": "DOID:898", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion." }, "synonyms": [ { "id": "DOID:898", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:898", "name": "Congenital biliary ectasias", "description": "" }, { "id": "DOID:898", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:898", "name": "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1", "description": "" }, { "id": "DOID:898", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:898", "name": "ADPKD", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 3049, "end_pos": 3049, "sequence_org": "T", "sequence_mut": "C", "comment": "Does not affect auto-cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" }, { "database": "PubMed", "id": "17525154", "url": "https://glygen.org/publication/PubMed/17525154" } ] }, { "start_pos": 3049, "end_pos": 3049, "sequence_org": "T", "sequence_mut": "G", "comment": "Does not undergo auto-cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" }, { "database": "PubMed", "id": "17525154", "url": "https://glygen.org/publication/PubMed/17525154" } ] }, { "start_pos": 3049, "end_pos": 3049, "sequence_org": "T", "sequence_mut": "R", "comment": "Does not undergo auto-cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" }, { "database": "PubMed", "id": "17525154", "url": "https://glygen.org/publication/PubMed/17525154" } ] }, { "start_pos": 3049, "end_pos": 3049, "sequence_org": "T", "sequence_mut": "S", "comment": "Does not affect auto-cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" }, { "database": "PubMed", "id": "17525154", "url": "https://glygen.org/publication/PubMed/17525154" } ] }, { "start_pos": 3049, "end_pos": 3049, "sequence_org": "T", "sequence_mut": "V", "comment": "Does not undergo auto-cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" }, { "database": "PubMed", "id": "17525154", "url": "https://glygen.org/publication/PubMed/17525154" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "76.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "85.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000008710", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000008710" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P98161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P98161" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P98161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P98161" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "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 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"MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKSLVCWPSGEGTLSWPDLLSDPSIVGSNLRQLARGQAGHGLGPEEDGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSLSSTPGEKTETLALQRLGELGPPSPGLNWEQPQAARLSRTGLVEGLRKRLLPAWCASLAHGLSLLLVAVAVAVSGWVGASFPPGVSVAWLLSSSASFLASFLGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVPRVRPPHGFALFLAKEEARKVKRLHGMLRSLLVYMLFLLVTLLASYGDASCHGHAYRLQSAIKQELHSRAFLAITRSEELWPWMAHVLLPYVHGNQSSPELGPPRLRQVRLQEALYPDPPGPRVHTCSAAGGFSTSDYDVGWESPHNGSGTWAYSAPDLLGAWSWGSCAVYDSGGYVQELGLSLEESRDRLRFLQLHNWLDNRSRAVFLELTRYSPAVGLHAAVTLRLEFPAAGRALAALSVRPFALRRLSAGLSLPLLTSVCLLLFAVHFAVAEARTWHREGRWRVLRLGAWARWLLVALTAATALVRLAQLGAADRQWTRFVRGRPRRFTSFDQVAQLSSAARGLAASLLFLLLVKAAQQLRFVRQWSVFGKTLCRALPELLGVTLGLVVLGVAYAQLAILLVSSCVDSLWSVAQALLVLCPGTGLSTLCPAESWHLSPLLCVGLWALRLWGALRLGAVILRWRYHALRGELYRPAWEPQDYEMVELFLRRLRLWMGLSKVKEFRHKVRFEGMEPLPSRSSRGSKVSPDVPPPSAGSDASHPSTSSSQLDGLSVSLGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATEDVYQLEQQLHSLQGRRSSRAPAGSSRGPSPGLRPALPSRLARASRGVDLATGPSRTPLRAKNKVHPSST", "length": 4303, "header": "sp|P98161-1|PKD1_HUMAN Isoform 1 of Polycystin-1 OS=Homo sapiens OX=9606 GN=PKD1 PE=1 SV=3 CANONICAL=P98161-1" }, "isoforms": [ { "isoform_ac": "H3BQF4-1", "url": "https://www.uniprot.org/uniprotkb/H3BQF4/entry", "sequence": { "sequence": "XVSVAWLLSSSASFLASFLGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVPRVRPPHGFALFLAKEEARKVKRLHGMLRV", "length": 91, "header": "tr|H3BQF4-1|PKD1_HUMAN Computationally mapped isoform of Polycystin-1 OS=Homo sapiens OX=9606 GN=PKD1 PE=1 SV=1 CANONICAL=P98161-1" }, "locus": { "chromosome": "16", "start_pos": 2093884, "end_pos": 2092589, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562425.1", "url": "https://www.ensembl.org/id/ENST00000562425.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000455753.1", "url": "https://www.ensembl.org/id/ENSP00000455753.1" } ] } }, { "isoform_ac": "H3BSE8-1", "url": "https://www.uniprot.org/uniprotkb/H3BSE8/entry", "sequence": { "sequence": "XAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLV", "length": 155, "header": "tr|H3BSE8-1|H3BSE8_HUMAN Computationally mapped isoform of Polycystin 1, transient receptor potential channel interacting OS=Homo sapiens OX=9606 GN=PKD1 PE=1 SV=1 CANONICAL=P98161-1" }, "locus": { "chromosome": "16", "start_pos": 2112830, "end_pos": 2106590, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483024.1", "url": "https://www.ensembl.org/id/ENST00000483024.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456670.1", "url": "https://www.ensembl.org/id/ENSP00000456670.1" } ] } }, { "isoform_ac": "H3BSE9-1", "url": "https://www.uniprot.org/uniprotkb/H3BSE9/entry", "sequence": { "sequence": "XDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRHTGPGAGWERVLRPQPGGRRPDAAQFPLGLCGFDTEGGWRVCAELWAPREQHGHHSTGAAGGWRGVHLQPDRVEGRPQGGGHQPDGAD", "length": 246, "header": "tr|H3BSE9-1|H3BSE9_HUMAN Computationally mapped isoform of Polycystin 1, transient receptor potential channel interacting OS=Homo sapiens OX=9606 GN=PKD1 PE=1 SV=1 CANONICAL=P98161-1" }, "locus": { "chromosome": "16", "start_pos": 2118078, "end_pos": 2106941, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000488185.2", "url": "https://www.ensembl.org/id/ENST00000488185.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000456672.1", "url": "https://www.ensembl.org/id/ENSP00000456672.1" } ] } }, { "isoform_ac": "H3BTE0-1", "url": "https://www.uniprot.org/uniprotkb/H3BTE0/entry", "sequence": { "sequence": "PTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKLRQLRQLRCGPAPGLRRCCGHPGQQQPCGRAASAAQLYAAGRPLPV", "length": 1122, "header": "tr|H3BTE0-1|H3BTE0_HUMAN Computationally mapped isoform of Polycystin 1, transient receptor potential channel interacting OS=Homo sapiens OX=9606 GN=PKD1 PE=1 SV=1 CANONICAL=P98161-1" }, "locus": { "chromosome": "16", "start_pos": 2109853, "end_pos": 2102958, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487932.5", "url": "https://www.ensembl.org/id/ENST00000487932.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457132.1", "url": "https://www.ensembl.org/id/ENSP00000457132.1" } ] } }, { "isoform_ac": "H3BTG3-1", "url": "https://www.uniprot.org/uniprotkb/H3BTG3/entry", "sequence": { "sequence": "MLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRGWRWAQRRRARPSAWRAARTGCPGSHTQPQPSTASGSGPPGGVTPTCAQRRTATSASCSPEAQCRMPRTSSWERPVGTCRDP", "length": 200, "header": "tr|H3BTG3-1|H3BTG3_HUMAN Computationally mapped isoform of Polycystin 1, transient receptor potential channel interacting OS=Homo sapiens OX=9606 GN=PKD1 PE=1 SV=2 CANONICAL=P98161-1" }, "locus": { "chromosome": "16", "start_pos": 2117959, "end_pos": 2116582, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568591.5", "url": "https://www.ensembl.org/id/ENST00000568591.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457162.1", "url": "https://www.ensembl.org/id/ENSP00000457162.1" } ] } }, { "isoform_ac": "H3BV77-1", "url": "https://www.uniprot.org/uniprotkb/H3BV77/entry", "sequence": { "sequence": "XETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSK", "length": 607, "header": "tr|H3BV77-1|H3BV77_HUMAN Computationally mapped isoform of Polycystin 1, transient receptor potential channel interacting OS=Homo sapiens OX=9606 GN=PKD1 PE=1 SV=1 CANONICAL=P98161-1" }, "locus": { "chromosome": "16", "start_pos": 2105398, "end_pos": 2097729, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567946.1", "url": "https://www.ensembl.org/id/ENST00000567946.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457984.1", "url": "https://www.ensembl.org/id/ENSP00000457984.1" } ] } }, { "isoform_ac": "I3L4N0-1", "url": "https://www.uniprot.org/uniprotkb/I3L4N0/entry", "sequence": { "sequence": "XGPRVHTCSAAGGFSTSDYDVGWESPHNGSGTWAYSAPDLLGSWA", "length": 45, "header": "tr|I3L4N0-1|I3L4N0_HUMAN Computationally mapped isoform of Polycystin 1, transient receptor potential channel interacting OS=Homo sapiens OX=9606 GN=PKD1 PE=4 SV=1 CANONICAL=P98161-1" }, "locus": { "chromosome": "16", "start_pos": 2092170, "end_pos": 2091844, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561668.5", "url": "https://www.ensembl.org/id/ENST00000561668.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000461391.1", "url": "https://www.ensembl.org/id/ENSP00000461391.1" } ] } }, { "isoform_ac": "P98161-1", "url": "https://www.uniprot.org/uniprotkb/P98161/entry#P98161-1", "sequence": { "sequence": "MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKSLVCWPSGEGTLSWPDLLSDPSIVGSNLRQLARGQAGHGLGPEEDGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSLSSTPGEKTETLALQRLGELGPPSPGLNWEQPQAARLSRTGLVEGLRKRLLPAWCASLAHGLSLLLVAVAVAVSGWVGASFPPGVSVAWLLSSSASFLASFLGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVPRVRPPHGFALFLAKEEARKVKRLHGMLRSLLVYMLFLLVTLLASYGDASCHGHAYRLQSAIKQELHSRAFLAITRSEELWPWMAHVLLPYVHGNQSSPELGPPRLRQVRLQEALYPDPPGPRVHTCSAAGGFSTSDYDVGWESPHNGSGTWAYSAPDLLGAWSWGSCAVYDSGGYVQELGLSLEESRDRLRFLQLHNWLDNRSRAVFLELTRYSPAVGLHAAVTLRLEFPAAGRALAALSVRPFALRRLSAGLSLPLLTSVCLLLFAVHFAVAEARTWHREGRWRVLRLGAWARWLLVALTAATALVRLAQLGAADRQWTRFVRGRPRRFTSFDQVAQLSSAARGLAASLLFLLLVKAAQQLRFVRQWSVFGKTLCRALPELLGVTLGLVVLGVAYAQLAILLVSSCVDSLWSVAQALLVLCPGTGLSTLCPAESWHLSPLLCVGLWALRLWGALRLGAVILRWRYHALRGELYRPAWEPQDYEMVELFLRRLRLWMGLSKVKEFRHKVRFEGMEPLPSRSSRGSKVSPDVPPPSAGSDASHPSTSSSQLDGLSVSLGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATEDVYQLEQQLHSLQGRRSSRAPAGSSRGPSPGLRPALPSRLARASRGVDLATGPSRTPLRAKNKVHPSST", "length": 4303, "header": "sp|P98161-1|PKD1_HUMAN Isoform 1 of Polycystin-1 OS=Homo sapiens OX=9606 GN=PKD1 PE=1 SV=3 CANONICAL=P98161-1" }, "locus": { "chromosome": "16", "start_pos": 2135689, "end_pos": 2089730, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262304.9", "url": "https://www.ensembl.org/id/ENST00000262304.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000262304.4", "url": "https://www.ensembl.org/id/ENSP00000262304.4" } ] } }, { "isoform_ac": "P98161-2", "url": "https://www.uniprot.org/uniprotkb/P98161/entry#P98161-2", "sequence": { "sequence": "MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTALVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEAFVGQMKSDLFLDDSKSLVCWPSGEGTLSWPDLLSDPSIVGSNLRQLARGQAGHGLGPEEDGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSLSSTPGEKTETLALQRLGELGPPSPGLNWEQPQAARLSRTGLVEGLRKRLLPAWCASLAHGLSLLLVAVAVAVSGWVGASFPPGVSVAWLLSSSASFLASFLGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVPRVRPPHGFALFLAKEEARKVKRLHGMLRSLLVYMLFLLVTLLASYGDASCHGHAYRLQSAIKQELHSRAFLAITRSEELWPWMAHVLLPYVHGNQSSPELGPPRLRQVRLQEALYPDPPGPRVHTCSAAGGFSTSDYDVGWESPHNGSGTWAYSAPDLLGAWSWGSCAVYDSGGYVQELGLSLEESRDRLRFLQLHNWLDNRSRAVFLELTRYSPAVGLHAAVTLRLEFPAAGRALAALSVRPFALRRLSAGLSLPLLTSVCLLLFAVHFAVAEARTWHREGRWRVLRLGAWARWLLVALTAATALVRLAQLGAADRQWTRFVRGRPRRFTSFDQVAQLSSAARGLAASLLFLLLVKAAQQLRFVRQWSVFGKTLCRALPELLGVTLGLVVLGVAYAQLAILLVSSCVDSLWSVAQALLVLCPGTGLSTLCPAESWHLSPLLCVGLWALRLWGALRLGAVILRWRYHALRGELYRPAWEPQDYEMVELFLRRLRLWMGLSKVKEFRHKVRFEGMEPLPSRSSRGSKVSPDVPPPSAGSDASHPSTSSSQLDGLSVSLGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATEDVYQLEQQLHSLQGRRSSRAPAGSSRGPSPGLRPALPSRLARASRGVDLATGPSRTPLRAKNKVHPSST", "length": 4292, "header": "sp|P98161-2|PKD1_HUMAN Isoform 2 of Polycystin-1 OS=Homo sapiens OX=9606 GN=PKD1 PE=1 SV=3 CANONICAL=P98161-1" }, "locus": {} }, { "isoform_ac": "P98161-3", "url": "https://www.uniprot.org/uniprotkb/P98161/entry#P98161-3", "sequence": { "sequence": "MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEAFVGQMKSDLFLDDSKSLVCWPSGEGTLSWPDLLSDPSIVGSNLRQLARGQAGHGLGPEEDGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSLSSTPGEKTETLALQRLGELGPPSPGLNWEQPQAARLSRTGLVEGLRKRLLPAWCASLAHGLSLLLVAVAVAVSGWVGASFPPGVSVAWLLSSSASFLASFLGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVPRVRPPHGFALFLAKEEARKVKRLHGMLRSLLVYMLFLLVTLLASYGDASCHGHAYRLQSAIKQELHSRAFLAITRSEELWPWMAHVLLPYVHGNQSSPELGPPRLRQVRLQEALYPDPPGPRVHTCSAAGGFSTSDYDVGWESPHNGSGTWAYSAPDLLGAWSWGSCAVYDSGGYVQELGLSLEESRDRLRFLQLHNWLDNRSRAVFLELTRYSPAVGLHAAVTLRLEFPAAGRALAALSVRPFALRRLSAGLSLPLLTSVCLLLFAVHFAVAEARTWHREGRWRVLRLGAWARWLLVALTAATALVRLAQLGAADRQWTRFVRGRPRRFTSFDQVAQLSSAARGLAASLLFLLLVKAAQQLRFVRQWSVFGKTLCRALPELLGVTLGLVVLGVAYAQLAILLVSSCVDSLWSVAQALLVLCPGTGLSTLCPAESWHLSPLLCVGLWALRLWGALRLGAVILRWRYHALRGELYRPAWEPQDYEMVELFLRRLRLWMGLSKVKEFRHKVRFEGMEPLPSRSSRGSKVSPDVPPPSAGSDASHPSTSSSQLDGLSVSLGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATEDVYQLEQQLHSLQGRRSSRAPAGSSRGPSPGLRPALPSRLARASRGVDLATGPSRTPLRAKNKVHPSST", 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Hum. Genet.", "date": "2001", "authors": "Mizoguchi M, Tamura T, Yamaki A, Higashihara E, Shimizu Y", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "11558899", "url": "https://glygen.org/publication/PubMed/11558899" } ] }, { "title": "Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.", "journal": "European journal of human genetics : EJHG", "date": "2001", "authors": "Bouba I, Koptides M, Mean R, Costi CE, Demetriou K, Georgiou I, Pierides A, Siamopoulos K, Deltas CC", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" }, { "database": "dbSNP", "id": "rs748240352", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748240352" }, { "database": "dbSNP", "id": "rs2151766716", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151766716" } ], "reference": [ { "type": "PubMed", "id": "11571556", "url": "https://glygen.org/publication/PubMed/11571556" } ] }, { "title": "Mutational analysis within the 3' region of the PKD1 gene in Japanese families.", "journal": "Mutation research", "date": "2001", "authors": "Tsuchiya K, Komeda M, Takahashi M, Yamashita N, Cigira M, Suzuki T, Suzuki K, Nihei H, Mochizuki T", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "11691639", "url": "https://glygen.org/publication/PubMed/11691639" } ] }, { "title": "Polycystin channels and kidney disease.", "journal": "Trends Pharmacol. 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Australian families.", "journal": "Human mutation", "date": "2002", "authors": "McCluskey M, Schiavello T, Hunter M, Hantke J, Angelicheva D, Bogdanova N, Markoff A, Thomas M, Dworniczak B, Horst J, Kalaydjieva L", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "11857740", "url": "https://glygen.org/publication/PubMed/11857740" } ] }, { "title": "A complete mutation screen of the ADPKD genes by DHPLC.", "journal": "Kidney international", "date": "2002", "authors": "Rossetti S, Chauveau D, Walker D, Saggar-Malik A, Winearls CG, Torres VE, Harris PC", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "11967008", "url": "https://glygen.org/publication/PubMed/11967008" } ] }, { "title": "Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.", "journal": "Human mutation", "date": "2002", "authors": "Inoue S, Inoue K, Utsunomiya M, Nozaki J, Yamada Y, Iwasa T, Mori E, Yoshinaga T, Koizumi A", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "12007219", "url": "https://glygen.org/publication/PubMed/12007219" } ] }, { "title": "Mutation screening of the PKD1 transcript by RT-PCR.", "journal": "Journal of medical genetics", "date": "2002", "authors": "Burtey S, Lossi AM, Bayle J, Berland Y, Fontes M", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "12070253", "url": "https://glygen.org/publication/PubMed/12070253" } ] }, { "title": "Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.", "journal": "Clinical genetics", "date": "2002", "authors": "Eo HS, Lee JG, Ahn C, Cho JT, Hwang DY, Hwang YH, Lee EJ, Kim YS, Han JS, Kim S, Lee JS, Jeoung DI, Lee SE, Kim UK", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "12220456", "url": "https://glygen.org/publication/PubMed/12220456" } ] }, { "title": "A Rab8-specific GDP/GTP exchange factor is involved in actin remodeling and polarized membrane transport.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Hattula K, Furuhjelm J, Arffman A, Peranen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "12221131", "url": "https://glygen.org/publication/PubMed/12221131" } ] }, { "title": "Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.", "journal": 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Chlo\u00e9, Guillaume Philippe, Solleder Marthe, Pak HuiSong, Gannon Philippe O, Kandalaft Lana E, Coukos George, Gfeller David", "evidence": [ { "database": "IEDB", "id": "622657", "url": "https://www.iedb.org/epitope/622657" }, { "database": "IEDB", "id": "705944", "url": "https://www.iedb.org/epitope/705944" }, { "database": "IEDB", "id": "720905", "url": "https://www.iedb.org/epitope/720905" } ], "reference": [ { "type": "PubMed", "id": "28832583", "url": "https://glygen.org/publication/PubMed/28832583" } ] }, { "title": "Data-Independent Acquisition of HLA Class I Peptidomes on the Q Exactive Mass Spectrometer Platform.", "journal": "Proteomics", "date": "2017-10", "authors": "Ritz Danilo, Kinzi Jonny, Neri Dario, Fugmann Tim", "evidence": [ { "database": "IEDB", "id": "622657", "url": "https://www.iedb.org/epitope/622657" }, { "database": "IEDB", "id": "626748", "url": "https://www.iedb.org/epitope/626748" } ], "reference": [ { "type": "PubMed", "id": "28834231", "url": 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"url": "https://www.iedb.org/epitope/885690" } ], "reference": [ { "type": "PubMed", "id": "30429286", "url": "https://glygen.org/publication/PubMed/30429286" } ] }, { "title": "Specific MHC-I Peptides Are Induced Using PROTACs.", "journal": "Frontiers in immunology", "date": "2018", "authors": "Jensen Stephanie M, Potts Gregory K, Ready Damien B, Patterson Melanie J", "evidence": [ { "database": "IEDB", "id": "637189", "url": "https://www.iedb.org/epitope/637189" }, { "database": "IEDB", "id": "866482", "url": "https://www.iedb.org/epitope/866482" }, { "database": "IEDB", "id": "869633", "url": "https://www.iedb.org/epitope/869633" } ], "reference": [ { "type": "PubMed", "id": "30524438", "url": "https://glygen.org/publication/PubMed/30524438" } ] }, { "title": "Identification of Immunodominant HIV-1 Epitopes Presented by HLA-C*12:02, a Protective Allele, Using an Immunopeptidomics Approach.", "journal": "Journal of virology", "date": "2019-09-01", "authors": "Chikata Takayuki, Paes 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"reference": [ { "type": "PubMed", "id": "32157095", "url": "https://glygen.org/publication/PubMed/32157095" } ] }, { "title": "Immunopeptidome Analysis of HLA-DPB1 Allelic Variants Reveals New Functional Hierarchies.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2020-06-15", "authors": "van Balen Peter, Kester Michel G D, de Klerk Wendy, Crivello Pietro, Arrieta-Bola\u00f1os Esteban, de Ru Arnoud H, Jedema Inge, Mohammed Yassene, Heemskerk Mirjam H M, Fleischhauer Katharina, van Veelen Peter A, Falkenburg J H Frederik", "evidence": [ { "database": "IEDB", "id": "1177028", "url": "https://www.iedb.org/epitope/1177028" }, { "database": "IEDB", "id": "1177029", "url": "https://www.iedb.org/epitope/1177029" } ], "reference": [ { "type": "PubMed", "id": "32350084", "url": "https://glygen.org/publication/PubMed/32350084" } ] }, { "title": "Immunopeptidomic Analysis Reveals That Deamidated HLA-bound Peptides Arise Predominantly from Deglycosylated Precursors.", 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Thery Fabien, Maia Teresa M, Demol Hans, Gabriels Ralf, Martens Lennart, B\u00e9cavin Christophe, De Smedt Stefaan C, Vandekerckhove Bart, Lentacker Ine, Impens Francis", "evidence": [ { "database": "IEDB", "id": "637189", "url": "https://www.iedb.org/epitope/637189" }, { "database": "IEDB", "id": "2244812", "url": "https://www.iedb.org/epitope/2244812" }, { "database": "IEDB", "id": "2247037", "url": "https://www.iedb.org/epitope/2247037" } ], "reference": [ { "type": "PubMed", "id": "36241641", "url": "https://glygen.org/publication/PubMed/36241641" } ] }, { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Polycystin-1 Interacting Protein-1 (CU062) Interacts with the Ectodomain of Polycystin-1 (PC1).", "journal": "Cells", "date": "2023-08-29", "authors": "Lea Wendy A, Winklhofer Thomas, Zelenchuk Lesya, Sharma Madhulika, Rossol-Allison Jessica, Fields Timothy A, Reif Gail, Calvet James P, Bakeberg Jason L, Wallace Darren P, Ward Christopher J", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "37681898", "url": "https://glygen.org/publication/PubMed/37681898" } ] }, { "title": "PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients.", "journal": "American journal of nephrology", "date": "2024", "authors": "Ali Hamad, Alahmad Barrak, Senum Sarah R, Warsame Samia, Bahbahani Yousif, Abu-Farha Mohamed, Abubaker Jehad, Alqaddoumi Malak, Al-Mulla Fahd, Harris Peter C", "evidence": [ { "database": "RefSeq", "id": "NP_001009944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ], "reference": [ { "type": "PubMed", "id": "38194940", "url": "https://glygen.org/publication/PubMed/38194940" } ] }, { "title": "Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.", "journal": "Clinical chemistry", "date": "2024-06-03", "authors": "Xu Dechao, Mao Aiping, Chen Libao, Wu Le, Ma Yiyi, Mei Changlin", "evidence": [ { "database": "RefSeq", "id": "NP_001009944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ], "reference": [ { "type": "PubMed", "id": "38527221", "url": "https://glygen.org/publication/PubMed/38527221" } ] }, { "title": "A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney disease.", "journal": "Medicine", "date": "2024-03-29", "authors": "Wei Ting, Zhang Bing, Tang Wei, Li Xin, Shuai Zhuang, Tang Tao, Zhang Yueyang, Deng Lin, Liu Qingsong", "evidence": [ { "database": "RefSeq", "id": "NP_001009944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009944" } ], "reference": [ { "type": "PubMed", "id": "38552045", "url": "https://glygen.org/publication/PubMed/38552045" } ] }, { "title": "Eliosin-an alternative product from the HmPKD1 locus is a component of endoplasmic reticulum mitochondria membrane contact sites.", "journal": "PloS one", "date": "2025", "authors": "Kurbegovic Almira, Lazar Virginie, Xu Wei-Min, Seshan Maya, Underwood John S, Micanovic Radmila, Pomerantz Jeremy M, Srivastava Rajneesh, Janga Sarath, Doud Emma H, Clendenon Sherry, Trudel Marie, Wandinger-Ness Angela, Bacallao Robert L", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "41166294", "url": "https://glygen.org/publication/PubMed/41166294" } ] }, { "title": "A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.", "journal": "Human molecular genetics", "date": "1995-08", "authors": "Turco A E, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti P F", "evidence": [ { "database": "dbSNP", "id": "rs199476094", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199476094" } ], "reference": [ { "type": "PubMed", "id": "7581371", "url": "https://glygen.org/publication/PubMed/7581371" } ] }, { "title": "The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.", "journal": "Nat. Genet.", "date": "1995", "authors": "Hughes J, Ward C J, Peral B, Aspinwall R, Clark K, San Mill\u00e1n J L, Gamble V, Harris P C", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "7663510", "url": "https://glygen.org/publication/PubMed/7663510" } ] }, { "title": "Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.", "journal": "American journal of human genetics", "date": "1996", "authors": "Peral B, San Millan JL, Ong AC, Gamble V, Ward CJ, Strong C, Harris PC", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" }, { "database": "dbSNP", "id": "rs199476096", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199476096" }, { "database": "dbSNP", "id": "rs199476095", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199476095" } ], "reference": [ { "type": "PubMed", "id": "8554072", "url": "https://glygen.org/publication/PubMed/8554072" } ] }, { "title": "Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.", "journal": "Human genetics", "date": "1996-10", "authors": "Neophytou P, Constantinides R, Lazarou A, Pierides A, Deltas C C", "evidence": [ { "database": "dbSNP", "id": "rs199476097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199476097" } ], "reference": [ { "type": "PubMed", "id": "8792818", "url": "https://glygen.org/publication/PubMed/8792818" } ] }, { "title": "A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).", "journal": "Human molecular genetics", "date": "1996-04", "authors": "Peral B, Ong A C, San Mill\u00e1n J L, Gamble V, Rees L, Harris P C", "evidence": [ { "database": "dbSNP", "id": "rs199476098", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199476098" } ], "reference": [ { "type": "PubMed", "id": "8845849", "url": "https://glygen.org/publication/PubMed/8845849" } ] }, { "title": "New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.", "journal": "Hum. Genet.", "date": "1997", "authors": "Constantinides R, Xenophontos S, Neophytou P, Nomura S, Pierides A, Deltas C C", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "9150733", "url": "https://glygen.org/publication/PubMed/9150733" } ] }, { "title": "Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.", "journal": "American journal of human genetics", "date": "1997", "authors": "Peral B, Gamble V, Strong C, Ong AC, Sloane-Stanley J, Zerres K, Winearls CG, Harris PC", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "9199561", "url": "https://glygen.org/publication/PubMed/9199561" } ] }, { "title": "Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.", "journal": "Human mutation", "date": "1997", "authors": "Turco AE, Rossetti S, Bresin E, Englisch S, Corra S, Pignatti PF", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "9259200", "url": "https://glygen.org/publication/PubMed/9259200" } ] }, { "title": "An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.", "journal": "Human molecular genetics", "date": "1997", "authors": "Watnick TJ, Piontek KB, Cordal TM, Weber H, Gandolph MA, Qian F, Lens XM, Neumann HP, Germino GG", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "9285784", "url": "https://glygen.org/publication/PubMed/9285784" } ] }, { "title": "Mutation detection in the repeated part of the PKD1 gene.", "journal": "American journal of human genetics", "date": "1997-11", "authors": "Roelfsema J H, Spruit L, Saris J J, Chang P, Pirson Y, van Ommen G J, Peters D J, Breuning M H", "evidence": [ { "database": "dbSNP", "id": "rs1218054241", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218054241" } ], "reference": [ { "type": "PubMed", "id": "9345095", "url": "https://glygen.org/publication/PubMed/9345095" } ] }, { "title": "Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.", "journal": "Human genetics", "date": "1998", "authors": "Daniells C, Maheshwar M, Lazarou L, Davies F, Coles G, Ravine D", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "9521593", "url": "https://glygen.org/publication/PubMed/9521593" } ] }, { "title": "Gene conversion is a likely cause of mutation in PKD1.", "journal": "Human molecular genetics", "date": "1998-08", "authors": "Watnick T J, Gandolph M A, Weber H, Neumann H P, Germino G G", "evidence": [ { "database": "dbSNP", "id": "rs1555455457", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555455457" } ], "reference": [ { "type": "PubMed", "id": "9668165", "url": "https://glygen.org/publication/PubMed/9668165" } ] }, { "title": "ASAP1, a phospholipid-dependent arf GTPase-activating protein that associates with and is phosphorylated by Src.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Brown MT, Andrade J, Radhakrishna H, Donaldson JG, Cooper JA, Randazzo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "9819391", "url": "https://glygen.org/publication/PubMed/9819391" } ] }, { "title": "The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease.", "journal": "EMBO J.", "date": "1999", "authors": "Bycroft M, Bateman A, Clarke J, Hamill S J, Sandford R, Thomas R L, Chothia C", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "9889186", "url": "https://glygen.org/publication/PubMed/9889186" } ] }, { "title": "Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.", "journal": "Human genetics", "date": "1998", "authors": "Koptides M, Constantinides R, Kyriakides G, Hadjigavriel M, Patsalis PC, Pierides A, Deltas CC", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "reference": [ { "type": "PubMed", "id": "9921908", "url": "https://glygen.org/publication/PubMed/9921908" } ] } ], "pathway": [ { "id": "hsa:5310", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:5310", "resource": "KEGG Pathway" }, { "id": "R-HSA-5620916", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916", "resource": "Reactome", "description": "VxPx cargo-targeting to cilium" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8M9QBN4-1", "protein_name": "Polycystin-1 isoform X1", "gene_name": "pkd1a", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MPCGNGQIASKRKHGVCLPKFGLFSSLLFALCCLEARSVVKADAAACTPCPGNCSCTAAGPQNSCVVNCSNIGLDQAPAASDLPADTHTLDLSRNRIHSVDWSLFDHLTALKELYLQSNRLATLPHGIFGCGPLAVLDLSNNQITTIEERTCDHLFNLTTIDLSFNPFLCDCKLVRLVSWLQEQGVKVKRPNSMLCDRPPEVRNQPLLNVSVHTCGLTYAGCLQDEAHTAGVELVIFSSSTPGPFSREECNSKCFHENQRYGGLGQQRECLCSTNSEPNHISESQCSAACSDPLVMKECRWTVARDVFQVNFSASLPSRRVSVHSEAVLSVASSVSPASFSWDFGDLSPRVNTSTPNTTARHKYGVPGRYQAHVSLSAGHQEIMAQGSVSVELPPRLELHCPDLIVANQSLEAELSLVNWGGVGVTVDWRISKDGREVARAEPQCPPDALHHVDSSRCFLLVSEEVSWAEARRNCSGRGGELAVVHSQSLRDLLATKITQERGVWLGLSDQSSPHVLRWLDGSDVLPGEEGSRDRGSLQPGNVCVSLDGGAQPSIHSCTAKRAFICQFTRHVRVPDAGVSMVGTAVFNTHNPLRSPAVSHTSVPNTPARRVELLLFAGLSFVSAGRLSSLEFVTHSLDTHTQVRFQVYRPRCPSFTHTLLPACGELCAPISVCQAPDEWMNSTEAPAAPGCPAERHFCPFSERCVSLSSPCPSSACFNCSGVSPPPAGTQYPEYSLLDEVLISLPAGPAASVLVQEEVQDLLVSPGDIIALQHDAGPSGLLQCSPDPSSPWSQSLLIQNRSHWWDANETLQADVEGVWEEGVLCQIRVLYVGQNQTGLQGPFLRSGLPQVGDYSLEVTSNDEDFPVTASCPIQVIPPLTPTVIHPTNHNNTVYFLPNQTWVLIKVRSQHSALIGCQGNNLTVAFERACPQSLLSKVAECRQSDPFNDTMFAWVDLQAGSTPGQTTVVLHVKSEVTEAYLQIQARVQEPLRGLLIQPHPAHRVLMESVVCYTPSVEAGTDPSFRWTVDDKPHFTYYNSMLNIIYQNAAVYKLTVTAMNQVSMLTEDFNVTVDRMNPMTDPTVHGVPKIVQQGSLLNLTAFITIDTAVDVTFWWWFGDGGNRTHQFKSPYDDNPSTNMVGIRDHVEYIYAQPGEYTLLLSTSNRYENKTCKVDVYVFSILTSVQIEVYPPLLRAEKPADFEAHPLPSPYGIIYTWNFGDNSSIQQGRERRVPHAYTHSGIYNICVNVNNSISSTDTCANIIVYEDIKGLEVMSSAPTEHNTPTVIRASLEAGNNVTWSFDMGDGKVHKSVEPQIKYKYREDGNYTVNVTAENAVSSQWLTIPVEVFVLQVLSLEPTGCIEENKIVSFHVFVSGNASGHQYVWSFGDGSPNETQYGTPLITHSYVNSGDYNLSLLVSSDANKAHFYTRICVQPKVTVVSVTPLRTHVRLGEESRFTVAAVPEFNYTYLWDFGVVDSGGPVRGGKEMTYTFNSAGEYQVTVTVQNNISSINASVSIEIQQSVGLLLISHNGDKGNHLSLHQEYNFKASSDSMNAVYIWDFGDGTQCNGKIVSHSYNSSGRFSISVIGKNEVSKTKNETSVVVLAPITRLSINASLVNVPLNASVHFEAQLDQGDDVRYSWILCDRCKSIQGTHTMFYTFLSVGTFNVIVTAENAISMAQSSIFIFVQRELEGLQIVADDLIEGCCFATNRILHLQASLKEGTNMTFTWNLLREHENHDNLTGKTIELNFSTPGPCEVILKATNLLGQLSVNKTIEFLDPVQDLVLESLPNPAAVNAMTNMTVSVNSGTNLHYKWWADGDLLESDMPSILHRFRSAGLKLVKVEVSNKVNSEVVSKWISIQEPISGLTFIAKNVTENFVATGDNVSMRGDTQMGTNISWMWLLPDSTKSNQRAISYIFHTPGLFTVALNATNDVSGEMYLRDFTVQDRIQGLELKASKQIAAVGENVEFTISVSSGTSVSFILSISGDATVVLNNLTYVHQFTSVAKYYVNLTAYNHVSSERRTLHIEVMEPVTKLTILDCCDAAIPVGVPRSYVASTPTREPLTILWTFDLHHGFKISRVGKSMTYAPEQPGNLTIFLRAFNSLNGLNVTKVIQVQSIIRSALLDAQPSDTFVNKTVNFHVGITPASTPATYQWDFGDGTSGTITTAPFHNHVYLIPGHYVVRVNVSNLVSWVTAQIEVNISVLKCDEPEVQIIQAPRLAIWRHQPTLVEASVNLKGCVLYGVEYLWEILTSPRCQDDDKKGPPPSKIQLPPEVNVRRLQLSVPKISIPAGNYTLVFSLSYEGVPLRKAACLQLSVMSKKLVPIIEGGTYRVWSKTHDLDLSAEQSYDPNLDPENQVPLSYHWECVSTSKGPDHCSTLHFGLGPSDPVLGISGSELEVDVEYTFRLTVSKDGMAPESTTQTVCVQSGRIPMVSLKCVSCKAQSRYEISQSSYVYLAGHCSNCQSSHRGRWTAMTRRNETLVLDLNTTTTGSDSMRLVLRQGILRDRESYIFSLHVTDDGMDREGVAYIELHPNLPPDGGACSLWADGGGTQVQTLLERVHFNCSGYTDLDETESPLVYSLLVVRCSELYCEEFYVYKGTSPEHSAFLPPGFSSAQYRVSVLVMVEDHQGASILARNTSMEVVLPVVPDGFVSLPHWLSNVTASTLRELLRQGDSQRVRELSLALITVLNEYEQGVSRRRERVSKSERQYRVSIRGNITRALTSLDLTTVSDIQQTSAALAQCTAVSREFVCEECQNSTLDKLESMLEILQTDTKQGTVTPTEIADNILNIMGDLIHQVNQVASSPPPEAEDQDGSVSQQPPFLQEELQHHPLRVAAKAYTLSSVLMRILMLGRVLNEEPLILRGAEIAAVGKRADPQSLLCYGESDAPECQGFSIPRPFNSSLGRAAEGALAPNSDDGIVQLLFQVEPNPFPFNYVDNYPVSTEVASMEFRTVNGTQIPIADLDESQAITVAVNNGSATGLDASGLKAVLPPAGAVNISRCDSIIVRVNTRNTNRQAGVYIQLNFTVLDDTPDSWITAYLDTSEWPNEFNSTDRKRITLNMTRRPDLHHRDYTFFLSPNVYDTTQDHFINVSSGCGTAEPELLRLEVAVFTSLCQYFSESAKQWRTDGMEPLAETSVGQAVCRTHHLTAFAASLFVPPDAVSFIIPERSVSRSVVVVLVCVVSLLCYAVAGAVLRKLDQMDLRRASVVPLCGKDGLYKYEIQLKTGWSPGAGTTAHVGISLHGSEGRSGHRHLDSVGAFARNSLDIFHIASDSSLGSVLKIRLWHDNKGLSPAWLLQYVLVKDLQTGSSFFFLIEEWLSVDNEKTDGRVEIEVEASEELYLRDWPRLLRWELQRAVCESHVWLSLWERPSRSPFTRLQRLTCCSLLLHLQMLAAAVWYGTVSYKHSSVPVADLVSVNVETLWAGMVSCLLVYPLYLLVFCLFRLSRSKVSVEQLPPQVDQESLEIDDFLENSLTGSSFLMLNAIPGETYSEETNIDLPTPSTKSLQRWSMPDCDWPDVLTDPSVEMGPVFPPRLKRGQGSRHLGVDITFSPDHEDDTVCQNSHRNKYFSSSDEDLIKRILADGQLLSQTDSDVGDLSSIFGDKTEVILLQKMNEPVPCATFRRDPPKTAFTSRTVVADVCKPRPLPPLCGLAALWASWAGLILSSSLSMWLGRGFSEGVALMWLISCIVSFLSSFLLLEPLKVLLEGVYFSLVVRRLRPEEQDVLVECPRVERVVQRIPRVRPPQGFALSQAREEARKVRLLHTMLKGFLLYMLFLMVVLLLNYSDSEKDAHRLRLNAQLQDHFLTKHFNNISSREDVWAWLSNSLLPRLLDEQVLMEKTGSLLIGRARLRQTRAQPECPVSGYFPASSWFGCVQAGWAESASGLVQNWSVSTAQSSGVWHWGQVSVYSSSGFVQDLSRKMQDSKNLINQLNTHQWLDPLTRALFLEFSLYNINTDLLSVFSFLLEFPVSERAQLSLDLKTFSLHTLSHGMDLPLFLTLILLVLLIYFSVREGLLVWKQGRCYFLRVWNLASVCSLLLAVCVASLHLSRSVVSAQQWRAFLQHRDAFTDFFPLAQQNQLLTQMSATLLFLLVLKASHQLRFLREWGVFGRTLRKSFWELLMVAVTLLVFLLAYSHTGHLLFHSVMEGYGTVSSTCFKLIGSSGRGLLSWRPDSGSFPCSGSCFIFYISFTLLRLVLLWILMSALLRNYRRARAELYRPAVDLQDYEMVELFLRRLKMWMGLSRTKEFRHKVRFEGMELPPSRSSSTSDCKSLCLPPLDTPEAPPTPDSVDGGSEASWRPTSSSPCSLAEVPGLGLGLSSGLGVIVGGQGWKERAEMEATLRRVLPAFDALLLQLDRVTHATEDLYRTEYRIERLLRKSRGQERARSRSRRSLDNAGQRRHKHRSTEVSESSRSPLRTEISDRNLHKSDRRSRKTDSRKFSKITSVLSKSLNKGDSSPHRENSLQRTQEKPCTKVEDVRNTEKEPSMVNSDPLQASSLELDRIPPRAQKAEKISQKVKRSSNKVDPNFQKDSEVDGCAIKPAQTPAPTPVPVPASAPSTAPVFAITTPVPIPRPHEWVPPSSSENLPTSVFRHPAHTTTNPTRKRKHKPPALKNKVHPNTDRPISGHPKP", "length": 4625 }, "evidence": [ { "id": "RGD:3333", "url": "https://alliancegenome.org/gene/RGD:3333#orthology", "database": "AGR" }, { "id": "MGI:97603", "url": "https://alliancegenome.org/gene/MGI:97603#orthology", "database": "AGR" }, { "id": "HGNC:9008", "url": "https://alliancegenome.org/gene/HGNC:9008#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-100707-1", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-100707-1#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0A8M9QMX0-1", "protein_name": "Polycystin-1 isoform X1", "gene_name": "pkd1b", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MANILHLPLIWILCVFTSCFSEKDCPKGAKIDRDGLRCYWMPSFTSTWLEARGICQRDERGGDLALVDSVTVQSFIQNSFRLEDPVGVWMREGMAEGLFGDLDAEDREKKCFSMALASGQWMNEQCNKRNFVICEKTISVSLPSLESYVTGVPLMSGVYTVSQIQLLPSPPDPGPHLVEIMLFPGLWFSHEGRVLSLEMVTQPSDQMTFARMQILRPYCSPSHHLVPPGCSSLLNPFSCCSLMAMCNTTGGCSSGQYWCHLLEICLPVTSPCSPYNSFNAGHDFALPPRYPVTPPFFHLMADMSLMLPPSSEHTHIRATVQDKHITVYPDDILALQHNRRAGEFLHCVASTSSAWRQSYLSLPGPEWGGWFEGSFSVQPGKGQWLDGVICDLQVIYEDPMPHYVISPTPNSPMNAESPVTGLQVLHPKLDKNNQMYVPVNVTTLIVIRIISGEHVTSSWSAPVSKSGVPFVSSCPVEMPETEEGGWFSHVYMELSGQEEYILNIKASNSLSAQTLSVRVVSHIPVSGLSIMPEGFRRVLVDIQQVFTASVTTGSSVTYSWVIDDLVQFAHTGESYSVVFKNPAEYTLKVMAHNPVSSQLMKVKLIADVMTPLDDLIVISMPEAIAVNTSTRYTIQVKADISIGVTIRWDFGDNTASVSHTVSPSSEIEELQQRAKHVYLQDSIQHTFASPGDYTLKIKAYNKYDQIEKAETVKVRTPISNLLVSSSPAVCQVNYTVLFEVSLWPSSFGALYSWNFSDDCEKVKEVYNKVSHVFNKPGTYNVTIMANNTLSTLTNYTAVEVIEPVSGLQLNYNISIELNSAFKISGKVSSGTHLKWTFEFGDGTTVINHTGSSASHMYESPGNYTVQVSAYNSVSQEHQLVSIEVYCLIITQITPTDCVLSQTEIDFEVLVKGFIPALTFEWEFGDGTPLSVVKGATSVTHTFKTAGTYTVGVNAHSLVTSVYYESSICVEGQITDVSLSSPNSAVAVSEVICFDASVLPKVTEYQFWWHNNFSSDTNPVKGLSHHCFMFQEEGLCEISVLVYNKVSNGTAKTIILVQRAVSNLCIKYEGNHDAMTVNQSYHFWAELLGKMASFQWDFGDGSKTEGQNQLHIFGFPGQFHVTVTASNAVSSDSVTVEIEVQAPLSYVMVNTSRPFVEAGKEILITALTDVRENISFFWTVNPSTPPKIGTSTFTHVFPNAGVFEIQVAAQNLVSRVEAITHIEVVEKIYGVWIQGQGLRSEKYFLTNQTILLEASVTHGSNLTYKWTANNSMAGNTKQFPLFTKNSGDIHVRLVVSNALGLVDSELSLRSVELVSGLSIVSPVKTVTKGKPVNISAILASGTDIKYSWFLDCEHCPVISDVPFILHAFKICGVVKIRVSASNVFGSEEATKLLTIEENISKVDFQINGQSRPFFVKSNHLLMLFGSAGPGNVLHWEWVLTLHNRTVVVLTDNQTVSYSFVDAADHRLSLNASNDISWQTVSYTITVQDAIQGLSLTSSSSVVCEDDSVTFLTSVSKGSEVSVSLEFVNASYSVDIGRDFTTYSLAVGNHLVRATAKNKVSSQTATATVRVVERIRDLRLIGCCSAVLEASKNISFQASAFSQANYHWTFLLNGVQSSREIGQHVHFTPFANGSLSVTVEAENGFCSQSLTSTATIQKHLKKVTLLTSHDGAFIDYPVTFVAITDGGSDLKFIWDFGDASEGLLVTDYNKQVHKYNVAGEFLVKVTAFNNISEVSVQIAIEVQNLVCTQPHIYTVKEEYNVLKSRPSFFEARVDFNGCVTHKASYIWEIFRGPDCPGMNKVNLNHSVDVTTPLLSLPKHTLKVGNYCLTFTARLKGTPLQQNKTIKLNVVHSRLIPVIKGGSLRLWSCLCDLTLDATESFDPDSEKNDIDLFKFQWSYTIENTTALSLAISTLHGHISGNSSMLILPRSVLLPDRVYRFTLTLFKSGRQPASISQSVRVYNATLLTVTVKCVSCNNQLFHMNHNDHVSLAGYCSSCQDTIQYRWTAENQRGEALTLNEVTTLTGSLRREIVIKPGVLMEGQEYTFTLNVSDPASGLWGSASITLVSNHPPYGGFCTLSPDDSLYFLETKVSYSCSGWMDDDGDSAQLIFSLQVAQCEDFGPLCPLITLYRGTQSTLSSLVPLGIKNTVENASVIHVLVHIEDSMGATVVAVKKKLTVLPCDQCTVTWLKKRSQSEFWALIQQGNPQDIMQYSFALTSQLNQLTSISAQELEDKIHIRTRVIQVLASLPVSSLQDVALISSALAQSTVVPSEVQCSGCYAKVLQVTKKMIKVIREQTGEGNINPTDTGRNILTVLSNTMTADLRQRSTPDTSEHIRAVSALGQVFELMRSLMLSRMRGGTALFLAIPKISAVGIQGDPTEDLRCKDVLTHCQFHIPPALSSQLKEEKQEVLQILLQMENEENPFIPGAEPPISTMLAAMEFATPQGNPISIANLTLDSAIQVTLHKQAQEMKDESLLWKNITLKHNGSVNFTVKAMDAEPHTGLYVALNFSLIPGSAEKASGLVWISINDQPVDLQSGRIHHQELTIFLSAQTPLLQHIIFLTPLLNGSAKELFVKVNSSIGGVDVTVSVCVFSVLCRFFDVKELRWSSDGLSPLSTSSPHSAHCLTQHLTMFGASLFIHPEALLLLPPSEEPVRNVVVGIICGVLLLIHLLVGLMAHKLDHLENLRLCWVPLCGQKGRYQYRVLVKTGWKRGSGTTAHVGISLYGLNKSGSRHLQRQGAFQRNSMDDFQVETDANLGEIWKIRIWHDNTGLDPSWYLQHVIVWDIQTENMFFFLVEDWLSVENEKNSGRVEKVILASCPQELHQFKRILHSQLLFGLQEHHLWISLWERPTHSRFSRAQRVTCCALLLHLYLAAGAVWYGAVGRKGSSGRVSTQMVMNAETVLVGMTVAALTFPFQAILKFLFQRTKSKVTLEVSAPPSPVSHTVEMDVFLSHPDLTCSSFLSLPTCPKSSIYDGPSPFTNSLQSKKLDSEFWNSPDPRNGRVDQLPSCDSIFGLPELTGTTHLLKRKKALLQLHLSTPTSDHDNGELAKSSASEEDLRTISPDMDLTNTLSSDPEASDSGNFTPNDTIPTDTQDSFCSEWSDLSVDTPTYEPGFHRSSSSLSVLSEASTFLPSLPPDSISTVSTTRIGVVRGVPGFYLPSWVLRMVHLLVAVLLGTCLAVVGLYGSSFTSSVVLMWLVSTLSAVLTSALLLEPLAICIQALYLATVVRPVDPEVEERLAQETEVRRSEEDFRDKVHPLCGYGLLQAKEEARKLRTLRALMRSCLVYMLFLLVVLMVNYQEHVQMADSRRLHSAIKHTLISASAGKPGLMKLSGWMNAEQWINEKLTSHLYENPSLLLTGPARLQKVYFQDFCSQGIRDQFQSGRLSLMPTAHVSSHANPGQQTSTAHSKNTPALSTWQKRALCAFSQTEELVLGNNTEYTRQILSDLQKEKWMTTGTKAVLIEFTQYHKQTSILAPVSILLDQTQTGRILAFISIQPFHISPLSGPDLHVTLTVVLLLFALCFLSTEVRALIRKPSQYLRQAWCWFQTLLALLALAAAVLRLYFLYTTTVCISRYRSIPSSFADFHSAATVARKSNQLSAILLTLLALKMVGILQFVRRWLVMGRVIWQVFPQICGVVFLLLLLLLLFSHIGMMLFSGSVEGFRTLGQASSSLLCLLRGRTGLQRLCEHHPVVGPLYCLSAVGIGFWVLGRLCAAVLIRTYQMVQADIYRPSMEPQDYEMVQFLIKRLKLWMGLSKTKEFRHRVKFEGMRPPPSRSSQVSASSNCWTPLSPIGSRQTLLSSASSLASDTSVISDSCDVHPYVERLVPCVDSLLAGFERVNQVTEEVYNFELQLQQIQSRISQIRKLPLPVTFTECDLTPKPPLLPRHPSSSVLESKPSPSCLLNTLPYRRAAHSESSLMGPAVQLGRRILSALDGGRMNSPNPRKRVVPRQRAWNSVTCHSADTAQWIAGFHNTDGPLVRPQSQDEDRQRGCEGMPIKRRAWQTEKEL", "length": 4007 }, "evidence": [ { "id": "MGI:97603", "url": "https://alliancegenome.org/gene/MGI:97603#orthology", "database": "AGR" }, { "id": "HGNC:9008", "url": "https://alliancegenome.org/gene/HGNC:9008#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-100707-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-100707-2#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0A8V0YXP6-1", "protein_name": "Polycystin 1, transient receptor potential channel interacting", "gene_name": "PKD1", "tax_id": 9031, "organism": "Gallus gallus", "sequence": { "sequence": "MPFGNGDTGTQRKHGVPAARLPLSGWCLLCSLLCGGLAAARTPPAPSCQPCAADCTCAGGRPGAACMANCSARGLERPPGVPTAATALDLSRNKISALDVQMFRSLTSLAKLDISHNKISTLEEGIFDNLFNLSEINLSWNPFFCDCKLSWLPRWVEDRKVTVLQAADTRCAHPPGVANLSLFSVSFVNATCGAQYVTCLTSNHTDEAELVILFTSSHPGNLTEETCSALCYADDQEYGGFSPQGQCLCGTAHEPNSSSSCLLFCTEHSSGQACGGPSLIHFPFQAQLSVSFIGLKPRYSLHEAVLFNVSIPIAVSTLIWEFGDQTEVLNTTGNAAVHTYALPGQYNVTATLFVGTKVSYVQAEIEVVASPQQLELQCPSLIKTNESLDIRIRNRGGTGLTVLYGITAESGEPGRAVHPMCPHDGLVFPGNNHCYQLVVEKAEWLEAQQHCQEHGNGELAFVSSPEIQSFLVTHVIRSLDVWIGFNDFASSEAQQRGEGFNIESCQNWLPGEPHPSNADHCVRMGPTGQCNTDLCMAKHSYVCEFKPKGVLLNAENFFVGDPVFDTHVAAKNVIEDTLSSPLQAVEVMVFPELAFRHEGYLSALEFVTQELHQPIQMRFQVHRPIDGKEYQEGQNATEPFPTSQDDGNYTLVECPPGFQWCHLTNLCSSVNNCCNAMECTNSSFASSPIPASPQHKGSQLSYELVKEFLFTIPAGPSAPYLVTFSKEDVFVRAKDVLSIQHNAGMGSFLQCQPSTTSPFRTNYFSTNSSDWALGLPASSIGATWIRNTVCSLRVLYAKEQLVPIISPQNAGLAHPGLYTVRASVDNGIFSANLSCNFWVTSQVSGLRVVHPTPQGGKVYVPSDHITLVVKISSGMNATARWLGDNHTFPFEEACPLTIAPLTSDCARENNDTWFAVLSLSGLKEGASTHTLVAENAISSQNITITIKVEQPIRGLRATPDPESRVLLNTRVSYVPVMEAGSDVTFRWTVDDKPSFTFYNVVFNVIYQSPAVYKLSLTASNHVSNFTVNYNVTVEMMNKMKNLTVLGIPPVLPQNSTVEFTARVQVDSAVDAMFLWDFGDGIQETYQFTPPYNKSFLVPDPSVHEVIIEHNVSHVYEYPGDYILVVQVSNQFENLTCLTPVRVHSYLVDVQIETVKDVLVVNRSVTFRAIPLPSPYGVLYTWDFGDGSSLVTESQSTVTYSYSSRGVYNISVSANNTINSVETVECYQVFEEITGLHVAADEVAEVGATVTLNASVQTGDSITWIFDMGDGTVLRSQVPVVEHVYTKDINCTVNVTAVNPVNSVSQTIPVWIFVLEVLRIDPTSCILEHPDVQLTAYVTGNPDEYIFDWTFGDGSSNVTVSGDPVVMHNFTRSGTFPLSLTLSSRFNKAHYFTSVCVEPEIVNVTLLPSKQFVRLGEECSFQVSAVPLYQYRYRWDFGNNESTRSSGTEVSYNYKSTGVFLVTVTVSNNVSFNNDTAFVEVQEPVGVAKIEYNGTKVLELNQIYLFSASMNGTKVNYFWDFGDGITQPGQITTHSYNNTGHYTISVTGQNDVSTNETRVDVTVKRRLHGITINASRTIVPLNGSVSFVATLVAGSAIRYSWILCDRCTPIQGSSTISYTFRSVGTFNVIVTAENEISSLQDSIYVYVLEQIEGLQVASSDLVEDLYFPTNKTLHLHAVVREGTNISYSWIAQKDGNAVQTATGKTFSLNVLEAGNYTVYLKATNMLGSTTANKTLEFIESLGLLKPYAFPNPVAVNASVNISTTITSGTGIVYVWYLEDGLSPVTSESFIIHSFQSPGAMEVVIGAENKLDSTNATISVYVEEVIEELSIGTAELDCRYVSSGSTVVFEGELQKGTEVTWLWEVPNGTLTGQSVAVMFPTAGFYTVYLNASNDISWAVASRNISVLDRIQGLEVIASKKVVEPGEQVTFVIRMSSGTSVSYLVSISGDYSVVLNGSKYTHEFTKSGDYLVTVTVQNQISIAHAQVLISVLEAVRDIRLLNCCERGIPTGTEKSFSAQVGSGSRVLFSWQFSLWKERGRSVVTAAGESVSYTPEAAGLLEIHLRAFNDLGGINITRTIQVQDPILQVSLTASNAFVNRTALFEAAVIPNGRGVEFLWTFGDGSSTQMTRVAVANYSYLSPGDYLVEVNATNLISFFVAHLTVTVKVLECEEPEVELALPPQVVMKRSQRNYLEAQLDLRGCIKYQTEHLWEIYRAPSCLHLDDSSRIHLPNVDVNRPQLVIPKLALEVGSYCFVFIVSFGDTPLSKSIFANVTMIPSKLVPIIDGGSYRVWSNTQDLILDGEKSYDPNLDDGEQTPLFYQWSCTFSSKSSAAGCSLNFSANGGNVTIPKAVLEADVEYTFNLTVWKKGMNPEATNQTVFIKRGGVPIVSLECVSCKAQSVYEVSKSSYVYLEGTCQNCHNDSKIGRWAAHSFKNKSLILDKKTTSTGDTGMNLVLRQGALKDGEGYTFTLHITDLTTGEEGFASIDLLPNQPPIDGSCQLSPKGPLRALMAKVHFECTGWRDTESAEDPLVYILLASRHRAGHYHEFCVYKGSRAEHSAFLPPGFHESGFVVSVSVLVQDQLGATVVAINQSMEIGLPEGFPSLSYWLYNQTDTVLQGLVKQGDPQQVIEYSLALITILNEYERSMLLEPETGNEFELRTWTRNNITETLNSLNVNTVDDIQQISAALAQCTVVSKELVCKSCLTRTLNKLESMMTILQGEMTQGTVTPTGIADNILNITGDLIHLVNTVSQESKPQELLADSHNLLLAPKAYNLSSSLMRILMKSRVLNEEPLELVGGEIKATGKRSDPFNLLCYENTPNCQFSIPQAFNTTLSNLTDVIQVMFQVDSNPFPFGYINNYTVSTKVASMEFQTHNGVQIPIGSLDSERAITVMVSNNTDADNLSAGTEVIEARTSVNLIVTMENNNREAGLHFRLTYKVLNDRYVASEPEPFIMAYLHHEPEPNEHNCTASKKISLEALSGSDHKLYTFFTSPLTDDTIQKYYLNITNHFSWSPVEVTLGLYTSLCQYFSEQEKRWKTEGIIPLEETRPDQAVCLTQHLTAFGASLFVPPNSVQFIFPAPGSGLNYIVLLTCAVCFVTYSVAALIVHKLDMIDINRVGVIPFCGKNGLYKYEILVKTGWGRGSGTTAHVGIALYGVDNKSGHRHLDGENAFHRNSLDVFQIATERNLGSIWRIRIWHDNKGLSPSWYLQHVIVRDLQSSKSYFFLVNDWLSVESEENDGMVEKEVYAASETELRSFSRIFIAELQRGFFEKHVWLSMWDRPPRSRFTRVQRATCCSLLIFLFLCANAVWYGVVGNVHLSSGAVSNLIPVNVDTVAVGLVSSVVVYPLYLVILFLFRMARAKVSINHTVTHSDQQSLEIDNYLDSSVLDSSFPTFPGLRAEAFSEQTKTDLFLEDSKSLVRWPSSEALLSWPDLLSDPSIMGNTIQKLKRGRASRHLGLEAPLATEEDNLSLGVHQGQPRYFSASDEDLIRQILADGASGISHSQDLGPYMRAETDLISGLSSVFGEKVETVMMQKLNDKGQSMAAPPREVSRSAKSTWTVADQTFRKRLLPSWCSYLAHGISFFLFATSTGVSVWIGVGFSSSVALMWLISGIFSFLASFLVWEPLKVLLEALYFSLVAKRLHPEEDDTLVEHPFVEHVSEKISKVRPPQGFALFQAKEEARKVKLLHRMLKNFLIYMMFLLVILLTNYGDATRNSRAFLLQSSIKQQLGSSEFLHIKRSDQFWVWMSQVFLPYLYNNQSGQESYSTTLGVARLRQLRLQEAECQLTAQDVLHGLGTVARKNCIDSHSFSTADYAAGWERAAVNVTTAWSYSPPDLTGVWYWGYISFYDSGGYIQELGTSLEEGRAQLNYLQQHTWIDNMSRVVFVELMQYNPSVDLHAAITLQLEFLGAGQAVTTVTISPFPLLRLSSGVTLQLLMMVFLMMFVVYFVVSESLSIKKEGRAYFTLWGNYGQWVFILLTTCTVVVHLSQATLADQQWLKYLNNRKVFTNFYQVAFLNTVFSTLAASLLFLLIVQAAQQLRFVRQWSVFGKTFQKSMKELTAAGLAFVVLILAYAQLGFLLFSSSSESFRSVGSSLLLLIAMVRGGVSLYPCPPDSSGLYYLFCTSYIILEVWIVLRLFTVVLVYSYREMHFELYRPAFEPQDYEMVELFVRRLKMWMGFSKAKEFRHKVRFEGMEPLPSRDSSDSKSIRGPTPSAASDSSRASTSSSQLDGLSLVLSTRDSLEVDADLQRLLSLFEMLLAQFDRVNQVTEDVYRIEHQLQGSQSRRSRRRHSLVPEDVLSRYCAGNTERGPSPETSSPTDPQLPLSPHSPGSRSSVPSHLIRASRGISGAASVLPPHKAHSTLAPAVKKKRPLRAKNRVHPTVK", "length": 4382 }, "evidence": [ { "id": "P98161", "url": "https://omabrowser.org/oma/group/P98161/", "database": "OMA" } ], "glygen_name": "Chicken", "common_name": "Chicken" }, { "uniprot_canonical_ac": "F1MAD3-1", "protein_name": "Polycystin-1", "gene_name": "Pkd1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPPGAPARLALALGLGLWLGALAGDPGRGCGPCPLPCFCSPAPDAACRVNCSGRWLQTLGPSLRIPADATALDLSHNLLQTLDIRLLVNLSGLVELDLSNNRISTLEEGVFANLFNLSEINLSGNPFECNCGLAWLPRWAKEQQVHVVQSEATTCRGPVPLAGRPLLSTPLLDNACGEEYVACLPDNSSGAVAAVPFFFAHQGPLETAACSAFCFSAGEGLAALSEQNQCLCGAGQPSNTSAACSSWCSSILLSFNSACGGPTLLQHTFPASPGAALVGPHGPLASGQPADFHINSPLPISSTCWNFGDGSPEVDMAGPAATHSYVLPGGYHVTVVLTLGAGSALLETEVQVEVAPTVLELVCPSFVHSDESLDLGIRHRGGSALEVTYSILALDKEPAQVVHPLCPSDTEIFPGNGHCYRLVAEKAPWLQAQEQCRTWAGAALAMVDSPAIQHFLVSKVTRSLDVWIGFSSVEGKEGLDPQGEAFSLESCQNWLPGEPHPATEEHCVRLGPAGQCNTDLCSAPHSYVCELRPGGPVGDADNFLLGVSGGGRSGPLQPLAQQGTLQGPLQPVEVMVFPGLSPSQEAFLTAAEFETQELEDPVQLRLQVYRHSREAVAPEGSSELDNSTEPAPKCVPEELWCPGANVCVPFDALCNSHVCINGSASRLGLPRASYTLWKEFFFSVPAGPPTQYLVTLHGQDVPMLPGDLVALQHDAGPGTFLHCPLASSCPGQALYLSTNASDWMTNLPVHLEEAWAGPVCSLQLLLVTEQLTPLLGLGSNPGLQHPGHYEVRATVGNSISRQNLSCSFSVVSPVAGLRVIHPIPLDGHIYVPTNGSILVLQVDSGANATATAHWFGGNVSAPFEDACPPEVDFLKQDCTEEANGTLFSVLVLPRLKEGDHTVEIVAQNGASQANLSLRVTAEEPICGLRAVPSPEARVLQGILVRYSPMVEAGSDVAFRWTIDDKQSLTFHNTVFNVIYQTAAVFKLSLTASNHVSNITVNYNVTVERMNKMHGLWVSAVPAVLPPNATLALTGGVLVDSAVEVAFLWNFGDGEQVLRQFKPPYDESFQVPDPTVAQVLVEHNTTHIYNTPGEYNLTVTVSNTYENLTQQVPVSVRTVLPNVTIGMSSNVLLAGQPITFFPYPLPSADGVLYTWDFGDGSPVLIQSQPVLNHTYSMTGTYRISLEVNNTVSSVAAHVDICVFQELHGLTVYLNQSVEQGAPMVVNASVESGDNITWTFDMGDGTVFTGPEATVEHVYLRAQNFTVTVGATSPAGHLSQSLHVQVFVLEVLRIEPSTCIPTQPSAQIMAHVTGDPAHYLFDWTFGDGSSNVTVHGHPSVTHNFTRSGIFPLALVLSSHVNKAHYFTSICVEPEICNVTLQPERQVVKLGDEAWLVAYPWPPFPYRYTWDFGTEDSIHTQTGGSEVTFIYREPGSYLVIVTVSNNISSTNDSAFVDVQEPVSVTGIRINGSHVLELQQPYLFSAMGNGSPAAYLWELGDGSQHEGPEVTHIYSSTGDFTVRVSGWNEVSRSEAQLNITVKQRVRGLTINASRTVVPLNGSVSFSTLLEVGSDVHYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFIYVLQLIEGLQVVGGDGGCCFPTNYTLQLQAAVRDGTNISYSWTAQQDGGPTLISSGKSFSLTALKASTYYVHLRATNMLGSASANRTIDFVEPVESLILSASPNPAAVNTSLTLGAELAGGSGVVYTWYLEEGLSRETSMPSTTHTFAAPGLHLVRVTAENQLGSVNATIEVAVQAPVGGLSIRTSEPDSIFVAAGSTVPFWGQLAEGTNVTWCWTLPGGSKYSQYIDVRFPAAGHFSLWLNASNAVSWVSAVYNLTVEEPIMNLVLWASSKVVAPGQPVHFQILLAAGSAVTFRLQVGGSIPEVLPSLHFSHSFFRVGDHMVSVQAENHVSRAQAQVRILVLEAIVGLQVPNCCEPGMATGTEKNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGILEIHVRAFNELGGVNLTLVVEVQDIIQYVTLQSGRCFTNRSARFEAATSPSPRRVTYHWDFGDGTPVQETEESWTDHYYLHPGDYRVEVNATNLVSFFVAQATVTVQVLACREPEVEVALPLQVLMRRSQRNYLEAHVDLRNCVSYQTEYRWEVYRTTSCQRPGRMTQMVLPGVDVSRPQLVVPRLALPVGHYCFVFVVSFGDTPLARSIQANVTVAAERLVPIIEGGSYRVWSDTQDLVLDGSKSYDPNLEDGDQTPLNFHWACVASTQSETGGCVLNFGPRGSSVVTIPLERLEAGVEYTFNLIVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGHCHNCSSGSKQGRWAARTFSNKTLMLNENTTSTGSTGMHLVVRPGALHDGEGYIFTLTVLGHSGEEEGCASIRLLPNRPPLGGSCRLFPLESVRGLTTKVHFECTGWRDAEDGGAPLVYALRLKRCHQNYCEDFCIYKGSLSTYGAVLPPGFQPLFVVSLTVVVEDQLGASVVALNRSLTIVLPEPSGNPADLIPWLHSLTASVLPGLLRQADPQHVIEYSLALITVLNEYEQAPDMVSEPNLEQQLRAQMRKNITETLISLRVNTVDDIQQITAALAQCMVSSRELMCRSCLKKMLQKLEGMMRILQAETTEGTLTPTTIADSILNITGDLIHLASLDMQGPQPLELGAEPPSLMVASKAYNLSSALMCILMRSRVLNEEPLTLAGEEIVALGKRADPLSLLCYGKAWGPSCHFSIPEAFSGALSDLSDVVQLILLVDSNPFPFGYISNYTVSTKVASMAFQTQTGTQIPIEQLAAERAITVKVPNNSDQAAQSSHSPVGSTIVQPRASVSAVVTADNSNPQAGLHLRITYTVLNARYLSEEREPYLAVYLHSVSQPNEYNCSASRRISLEVLEGADHRPYTFFIAPGTGTLGRSYYLNLTSHFHWSALEVSVGLYTSLCQYFSEEAMMWRTEGIVPLEETSPSQAVCLTRHLTAFGASLFVPPSHVQFIFPEPSVSINYIVLLTCVICLVTYVIMAMILRKLDQLDVSRVRVIPFCGKGGRFKYEILVKTGWSRGSGTTAHVGIMLYGEDNRSGHRHLDGDRAFHRNSLDIFQIATPQSLGSVWKIRVWHDNKGLSPAWFLQHIIVRDLQSARSTFFLVNDWLSVETEANGGLVEKEVLAANEAALWQFQRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRVQRVTCCVLLLCLFLAANAVWYGVVGDTTYSMGPVSSLMSPSVDTVAIGLVSSVVVYPVYLAVLFLFRMSRSKVSGDQNPTPTGQQALDVDSYLDPSVLDSSLLTLSGLTEAFSGQVKNDLFLEDAKSLVCWPSSEGTLSWPDLLSDPSVMSSTLQRLAQGRPGCMLGSEEDGASLVSPSLPAKYLSASDEDLIHQVLADGANNPDPTQDALIERDLLTSLSSAPGEKTETLILQTMGEKRPPSMGLTWEQSPVTRLSRTGLVEGLRKRLLPTWCAPLAHGLSLLLVAVAVAVSGWIGASFPPSVSVMWLLSSSSSFLASFLGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSERVPRVRPPHGFALFLAKEEARKVKRLHDMLKSLLVYMLFLLVTLLANYGDASCHGHAYRLQSAIKQELDSQAFLAITRSDEFWPWMSHVLLPYVHGNQSSPELGPPRLRQVRLQEAFCPDPSSSEHMCSATGSLSTSDYGIGWQSVVQNGSETWAYSAPDLLGAWYWGYCAVYDSGGYIQELGLSLEESRARLGFLQLHNWLDSRSRAVFVELTRYSPAVGLHAAVTLRLEFPVAGHALAAFSVRPFALRRLSTGLSLPLLTSVCLLLFALYFSVAEVHTWRREGCARTARPEAWARWLLVMLTAATGLVRLAQLGIADRQWTRFVHDHPHHFTSFDQVAQLGSVARGLAASLLFLLLVKAAQQLRFVRQWSVFGKTLCRALPELMGATLGLVLLGVAYAQMAILLISSGADTLYSMARAFLVLCPGARVPTLCPSESWYLSPLLCVGLWALRVWGALRLGAVLLRWRYHALRGELYRPAWEPQDYEMVELFLRRLRLWMGFSKVKEFRHKVRFEGMDPLPSRSSRGSKSSPVVPPPSAGSEASHPSTSSSQPDGLSAGLGRSALRLEPEPSRLHAVFESLLVQFDRLNQATEDVYQLEQQLQSLRGHGHSGPPSSPSPGGFPASQPALPSRLARASQGPDQTTGPSRVSLWPNNKVHPSST", "length": 4292 }, "evidence": [ { "id": "RGD:3333", "url": "https://alliancegenome.org/gene/RGD:3333#orthology", "database": "AGR" }, { "id": "MGI:97603", "url": "https://alliancegenome.org/gene/MGI:97603#orthology", "database": "AGR" }, { "id": "HGNC:9008", "url": "https://alliancegenome.org/gene/HGNC:9008#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-100707-1", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-100707-1#orthology", "database": "AGR" }, { "id": "P98161", "url": "https://omabrowser.org/oma/group/P98161/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "O08852-1", "protein_name": "Polycystin-1", "gene_name": "Pkd1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPLGAPALLALALGLGLWLGALAGDPGRGCGPCPLPCFCGPAPDAACRVNCSGRWLQTLGPSLRIPADATALDLSHNLLQTLDIGLLVNLSALVELDLSNNRISTLEEGVFANLFNLSEINLSGNPFECNCGLAWLPRWAKEHQVHVVQSEATTCRGPIPLAGQPLLSIPLLDNACGEEYVACLPDNSSGAVAAVPFYFAHEGPLETEACSAFCFSAGEGLAALSEQNQCLCGAGQASNSSAACSSWCSSISLSLNSACGGPTLLQHTFPASPGATLVGPHGPLASGQPADFHITSSLPISSTRWNFGDGSPEVDMASPAATHFYVLPGSYHMTVVLALGAGSALLETEVQVEATPTVLELVCPSFVHSNESLELGIRHRGGSALEVTYSILALDKEPAQVVHPLCPLDTEIFPGNGHCYRLVAEKAPWLQAQEQCRTWAGAALAMVDSPAIQHFLVSKVTRSLDVWIGFSSVEGTEGLDPRGEAFSLESCQNWLPGEPHPATAEHCVRLGPAGQCNTDLCSAPHSYVCELRPGGPVWDTENFVMGMSGGGLSGPLHPLAQQETVQGPLRPVEVMVFPGLSPSREAFLTAAEFSTQKLEEPAQMRLQVYRPSGGAAAVPEGSSEPDNRTEPAPKCVPEELWCPGANVCIPFDASCNSHVCINGSVSRLGLSRASYTLWKEFFFSVPAGPPTQYLVTLHSQDVPMLPGDLIGLQHDAGPGTLLQCPLASSCPGQALYLSTNASDWMTNLPVHLEEAWAGPVCSLQLLLVTERLTPLLGLGPNPGLQHPGHYEVRATVGNSVSRQNLSCSFSVVSPIAGLRVIHPIPLDGHIYVPTNGSVLVLQVDSGANATATAQWFGGNISAPFEDACPPEVDFLKQDCTEEANGTLFSVLMLPRLKEGDHTVEIVAQNGASQANLSLRVTAEEPICGLRAVPSPEARVLQGILVRYSPMVEAGSDVAFRWTIDDKQSLTFHNTVFNVIYQSAAIFKLSLTASNHVSNITVNYNVTVERMNKMHGLWVSAVPTVLPPNATLALTGGVLVDSAVEVAFLWNFGDGEQVLRQFKPPYDESFQVPDPTVAQVLVEHNTTHIYTTPGEYNLTVLVSNTYENLTQQVTVSVRTVLPNVAIGMSSNVLVAGQPITFSPYPLPSTDGVLYTWDFGDGSPVLIQSQPVLNHTYSMTGAYRITLEVNNTVSSVTAHADIRVFQELHGLTVYLSPSVEQGAPMVVSASVESGDNITWTFDMGDGTVFTGPEATVQHVYLRAQNFTVTVEAANPAGHLSQSLHVQVFVLEVLHIEPSTCIPTQPSAQLMAHVTGDPVHYLFDWTFGDGSSNVTVHGHPSVTHNFTRSGIFPLALVLSSHVNKAHYFTSICVEPEIRNITLQPERQFVKLGDEARLVAYSWPPFPYRYTWDFGTEDTTHTQTGGSEVKFIYREPGSYLVIVTVSNNISSTNDSAFVEVQEPVLVTGIRINGSHVLELQQPYLLSAMGSGSPATYLWELGDGSQSEGPEVTHIYSSTGDFTVRVSGWNEVSRSEAQLNITVKQRVRGLTINASRTVVPLNGSVSFSTLLEVGSDVHYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFIYVLQFIEGLQVAGGDNGCCFPTNYTLQLQAAVRDGTNISYSWTAQQEGSLITLFGSGKCFSLTSLKASTYYVHLRATNMLGSAAANRTIDFVEPVESLILSASPNPAAVNMSLTLCAELAGGSGVVYTWYLEEGLSWKTSMPSTTHTFAAPGLHLVRVTAENQLGSVNATVEVAIQVPVGGLSIRTSEPDSIFVAAGSTLPFWGQLAEGTNVTWCWTLPGGSKDSQYIAVRFSTAGSFSLQLNASNAVSWVSAMYNLTVEEPIVNLMLWASSKVVAPGQPVHFEILLAAGSALTFRLQVGGSVPEVLPSPHFSHSFFRVGDHLVNVQAENHVSHAQAQVRILVLEAVVGLQVPNCCEPGMATGTEKNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIHVRAFNELGGVNLTLMVEVQDIIQYVTLQSGRCFTNRSARFEAATSPSPRRVTYHWDFGDGTPVQKTEEFWADHYYLRPGDYHVEVNATNLVSFFVAQATVTVQVLACREPEVEVALPLQVLMRRSQRNYLEAHVDLRNCVSYQTEYRWEIYRTASCQRPGRMAQMVLPGVDVSRPQLVVPRLALPVGHYCFVFVVSFGDTPLARSIQANVTVAAERLVPIIEGGSYRVWSDTQDLVLDGSKSYDPNLEDGDQTPLNFHWACVASTQSETGGCVLNFGPRGSSVVTIPLERLEAGVEYTFNLIVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGHCHNCSRGYKQGCWAARTFSNKTLVLNETTTSTGSTGMNLVVRPGALRDGEGYIFTLTVLGHSGEEEGCASIRLSPNRPPLGGSCRLFPLDSVRGLTTKVHFECTGWRDAEDGGAPLVYALLLKRCRQSYCENFCIYKGSLSTYGAVLPPGFQPLFVVSLAVVVQDQLGAAVVALNRSLTIVLPEPSGNPADLVPWLHSLTASVLPGLLKQADPQHVIEYSLALITVLNEYEQAPDVSEPNVEQQLRAQMRKNITETLISLRVNTVDDIQQITAALAQCMVSSRELMCRSCLKKMLQKLEGMMRILQAETTEGTLTPTTIADSILNITGDLIHLASLDMQGPQPLELGVEPPSLMVASKAYNLSSALMRILMRSRVLNEEPLTLAGEEIVALGKRSDPLSLLCYGKALGPSCHFSIPEAFSGALSNLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQTGTQIPIEQLAAERAITVKVPNNSDQAAQSSHNPVGSTIVQPQTSVSAVVTADNSNPQAGLHLRITYTVLNERYLSAEPEPYLAVYLHSVSQPNEYNCSASRRISLEVLEGADHRLYTFFIAPGTGTLDRSYYLNLTSHFHWSALEVSVGLYTSLCQYFSEEMMMWRTEGIVPLEETSPSQAVCLTRHLTAFGASLFVPPSHVQFIFPEPSASINYIVLLTCVICLVTYVVMAMILRKLDQLDVSRVRVIPFCGKGGRFKYEILVKTGWSRGSGTTAHVGIMLYGEDNRSGHRHLDGDRAFHRNSLDIFQIATPHSLGSVWKIRVWHDNKGLSPAWFLQHIIVRDLQSARSTFFLVNDWLSVETEANGGLVEKEVLAANEAALWQFQRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRVQRVTCCVLLLCLFLAANAVWYGVVRDTTYSMGPVSSLISPGVDTVAIGLVSSVVVYPVYLAVLFLFRMSRSKVSGDQNPTPTGQQALDVDSYLDPSVLDSSLLTLSGLTEAFAGQVKNDLFLEDAKSLVCWPSSEGTLSWPDLLSDPSVVSSTLQRLTQGRPGCMLGSEEDGASLVSPSLPAKYLSASDEDLIHQVLADGANNLVPTQDTLLETDLLTSLSSVPGEKTETLILQTVGEERPASMGLSWEQSPVTRLSRTGLVEGFQKRLLPAWCAPLAHGLSLLLVAVAVAVSGWIGASFPPSVSVMWLLSSSSSFLASFLGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSERVPRVRPPHGFALFLAKEEARKVKRLHDMLKRLLVYMLFLLVTLLANYGDASCHGHAYRLQSAIKQELDSQAFLAITRSDEFWPWMSHVFLPYVHGNQSSPELGPPRLRQVRLQEAFCPDPSSSEHMCSAAGSLSTSDYGIGWQSVVQNGSETWAYSAPDLLGAWYWGYCAVYDSGGYIQELGLSLEESRARLGFLQLHNWLDSRSRAVFVELTRYSPAVGLHAAVTLRLEFPVAGHALAAFSVRPFALRRLSTGLSLPLLTSVCLLLFALYFSMAEVQTWRKDGCACTARPDTWARCLLVILTAATGLVRLAQLGIADRQWTHFVQDHPRHFTSFDQVAQLGSVARGLAASLLFLLLVKAAQQLRFVRQWSVFGKTLCRALPELMGATLGLVLLGVAYAQMAILLISSGADTLYNMARAFLVLCPGARVPTLCPSESWYLSPLLCVGLWALRVWGALRLGAILLRWRYHALRGELYRPAWEPQDYEMVELFLRRLRLWMGFSKVKEFRHKVRFEGMDPLPSRSSRGSKSSPVVLPPSSGSEASHPSTSSSQPDGPSASLSRSTLKLEPEPSRLHAVFESLLVQFDRLNQATEDVYQLEQQLQSLQGHGHNGPPSSPSPGCFPGSQPALPSRLSRASQGLDQTVGPNRVSLWPNNKVHPSST", "length": 4293 }, "evidence": [ { "id": "RGD:3333", "url": "https://alliancegenome.org/gene/RGD:3333#orthology", "database": "AGR" }, { "id": "MGI:97603", "url": "https://alliancegenome.org/gene/MGI:97603#orthology", "database": "AGR" }, { "id": "HGNC:9008", "url": "https://alliancegenome.org/gene/HGNC:9008#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-100707-1", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-100707-1#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-100707-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-100707-2#orthology", "database": "AGR" }, { "id": "P98161", "url": "https://omabrowser.org/oma/group/P98161/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 38, "go_terms": [ { "name": "genitalia development", "id": "GO:0048806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048806", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "calcium-independent cell-matrix adhesion", "id": "GO:0007161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007161", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "mesonephric tubule development", "id": "GO:0072164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072164", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "metanephric ascending thin limb development", "id": "GO:0072218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072218", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "metanephric proximal tubule development", "id": "GO:0072237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072237", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "metanephric distal tubule morphogenesis", "id": "GO:0072287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072287", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "protein heterotetramerization", "id": "GO:0051290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051290", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "detection of mechanical stimulus", "id": "GO:0050982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050982", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "metanephric collecting duct development", "id": "GO:0072205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072205", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "placenta blood vessel development", "id": "GO:0060674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060674", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "lung epithelium development", "id": "GO:0060428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060428", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "regulation of proteasomal protein catabolic process", "id": "GO:0061136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061136", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "mesonephric duct development", "id": "GO:0072177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072177", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "mitocytosis", "id": "GO:0160040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160040", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 20, "go_terms": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "polycystin complex", "id": "GO:0002133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002133", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P98161", "url": "https://www.uniprot.org/uniprotkb/P98161" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": 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