[ { "uniprot_canonical_ac": "P08F94-1", "uniprot_ac": "P08F94", "uniprot_id": "PKHD1_HUMAN", "mass": { "chemical_mass": 446702.0, "monoisotopic_mass": 446702.0 }, "refseq": { "ac": "NP_619639", "name": "fibrocystin isoform 1", "summary": "The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, "gene_names": [ { "name": "PKHD1", "type": "recommended", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ] }, { "name": "ARPKD", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "FCYT", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ] }, { "name": "FPC", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "PCYT", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "PKD4", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "PKHD1", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "TIGM1", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ] } ], "protein_names": [ { "name": "Fibrocystin", "type": "recommended", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P08F94/entry#names_and_taxonomy" } ] }, { "name": "PKHD1, fibrocystin/polyductin", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "Polycystic kidney and hepatic disease 1 protein", "type": "synonym", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P08F94/entry#names_and_taxonomy" } ] }, { "name": "Polyductin", "type": "synonym", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P08F94/entry#names_and_taxonomy" } ] }, { "name": "TIG multiple domains 1", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "Tigmin", "type": "synonym", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P08F94/entry#names_and_taxonomy" } ] }, { "name": "fibrocystin isoform 1", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "fibrocystin/polyductin complex", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "fibrocystin", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "polycystic kidney and hepatic disease 1 (autosomal recessive)", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "polycystic kidney and hepatic disease 1 protein", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "polyductin", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] }, { "name": "tigmin", "type": "synonym", "evidence": [ { "id": "NP_619639", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] } ], "function": [ { "annotation": "Characterization of mutation in autosomal recessive polycystic kidney disease", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "11919560", "url": "https://glygen.org/publication/PubMed/11919560" } ] }, { "annotation": "Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "34536170", "url": "https://glygen.org/publication/PubMed/34536170" } ] }, { "annotation": "Comprehensive characterization of PKHD1 mutation in human colon cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "38178618", "url": "https://glygen.org/publication/PubMed/38178618" } ] }, { "annotation": "Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "38830515", "url": "https://glygen.org/publication/PubMed/38830515" } ] }, { "annotation": "PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "11898128", "url": "https://glygen.org/publication/PubMed/11898128" } ] }, { "annotation": "Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has an impact on cellular symmetry by ensuring correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly and by maintaining oriented cell division (OCD) during tubular elongation through planar cell polarity (PCP) pathway (PubMed:20554582). During epithelial cell morphogenesis, it also regulates cell-cell and cell-matrix adhesion and participates in cell motility (By similarity). Promotes cell-cell contact through the positive regulation of PTK2 kinase activity leading to either positive regulation of epithelial cell proliferation through the HRAS/RAF1 pathways, or negative regulation of apoptosis through the PDK1/AKT1 pathway (By similarity). May act in collecting-duct and biliary differentiation (PubMed:11919560). May participate in the regulation of the cholangiocytes proliferation and the CCN2 production in an CXCL8-dependent manner (PubMed:30898581).", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94#function" }, { "database": "PubMed", "id": "11919560", "url": "https://glygen.org/publication/PubMed/11919560" }, { "database": "PubMed", "id": "20554582", "url": "https://glygen.org/publication/PubMed/20554582" }, { "database": "UniProtKB", "id": "E9PZ36", "url": "https://www.uniprot.org/uniprotkb/E9PZ36#function" }, { "database": "PubMed", "id": "30898581", "url": "https://glygen.org/publication/PubMed/30898581" }, { "database": "UniProtKB", "id": "E2RK30", "url": "https://www.uniprot.org/uniprotkb/E2RK30#function" } ] }, { "annotation": "Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "35715958", "url": "https://glygen.org/publication/PubMed/35715958" } ] }, { "annotation": "The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] } ], "disease": [ { "disease_id": "DOID:0080212", "recommended_name": { "id": "DOID:0080212", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080212", "name": "polycystic kidney disease 4", "description": "A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene." }, "synonyms": [ { "id": "DOID:0080212", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080212", "name": "pkd3", "description": "" }, { "id": "DOID:0080212", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080212", "name": "polycystic kidney and hepatic disease 1", "description": "" }, { "id": "DOID:0080212", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080212", "name": "polycystic kidney disease, autosomal recessive", "description": "" }, { "id": "DOID:0080212", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080212", "name": "polycystic kidney disease, infantile, type i", "description": "" }, { "id": "DOID:0080212", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080212", "name": "polycystic kidney disease 4 with or without hepatic disease", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "polycystic kidney disease 4", "description": "A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene." }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "polycystic kidney disease 4, with or without hepatic disease", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "PKD3", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "PKD4", "description": "" }, { "id": "MIM:263200", "resource": "MIM", "url": "https://www.omim.org/entry/263200", "name": "Polycystic kidney disease 4, with or without polycystic liver disease", "description": "Polycystic kidney disease 4, with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "263200", "database": "MIM", "url": "https://www.omim.org/entry/263200" }, { "id": "0080212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080212" } ] }, { "disease_id": "DOID:0081394", "recommended_name": { "id": "DOID:0081394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081394", "name": "Caroli syndrome", "description": "A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0081394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081394" } ] }, { "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" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 3617, "end_pos": 3618, "sequence_org": "KR", "sequence_mut": "AA", "comment": "Loss of protein convertase cleavage into a 85 kDa PTM fragment.", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" }, { "database": "PubMed", "id": "17470460", "url": "https://glygen.org/publication/PubMed/17470460" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170927", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170927" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170927", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170927" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170927", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170927" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "43.58", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170927", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170927" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "45.04", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170927", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170927" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "56.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170927", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170927" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "40.42", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170927", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170927" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "71.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170927", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170927" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "46.14", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170927", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170927" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "44.09", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170927", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170927" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08F94", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08F94" } ], "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": "up", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08F94", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08F94" } ], "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 greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08F94", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08F94" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P08F94", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08F94" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", 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"id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of 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"https://www.iedb.org/epitope/1362962", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1365664", "url": "https://www.iedb.org/epitope/1365664", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1375367", "url": "https://www.iedb.org/epitope/1375367", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1377002", "url": "https://www.iedb.org/epitope/1377002", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1554835", "url": "https://www.iedb.org/epitope/1554835", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1858451", "url": "https://www.iedb.org/epitope/1858451", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1975967", "url": "https://www.iedb.org/epitope/1975967", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2000696", "url": "https://www.iedb.org/epitope/2000696", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2005446", "url": "https://www.iedb.org/epitope/2005446", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2011018", "url": "https://www.iedb.org/epitope/2011018", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2012323", "url": "https://www.iedb.org/epitope/2012323", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2012324", "url": "https://www.iedb.org/epitope/2012324", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2013994", "url": "https://www.iedb.org/epitope/2013994", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2016440", "url": "https://www.iedb.org/epitope/2016440", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2016989", "url": "https://www.iedb.org/epitope/2016989", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2020543", "url": "https://www.iedb.org/epitope/2020543", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2021933", "url": "https://www.iedb.org/epitope/2021933", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2022149", "url": "https://www.iedb.org/epitope/2022149", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2022977", "url": "https://www.iedb.org/epitope/2022977", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2028008", "url": "https://www.iedb.org/epitope/2028008", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2030715", "url": "https://www.iedb.org/epitope/2030715", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2031282", "url": "https://www.iedb.org/epitope/2031282", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2034691", "url": "https://www.iedb.org/epitope/2034691", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2035670", "url": "https://www.iedb.org/epitope/2035670", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2035896", "url": "https://www.iedb.org/epitope/2035896", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2038861", "url": "https://www.iedb.org/epitope/2038861", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2039179", "url": "https://www.iedb.org/epitope/2039179", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2047407", "url": "https://www.iedb.org/epitope/2047407", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2054057", "url": "https://www.iedb.org/epitope/2054057", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2056076", "url": "https://www.iedb.org/epitope/2056076", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2063872", "url": "https://www.iedb.org/epitope/2063872", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2065178", "url": "https://www.iedb.org/epitope/2065178", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2065851", "url": "https://www.iedb.org/epitope/2065851", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2070746", "url": "https://www.iedb.org/epitope/2070746", "database": "IEDB", "categories": [ "Other" ] }, { "id": "425161", "url": "https://www.iedb.org/epitope/425161", "database": "IEDB", "categories": [ "Other" ] }, { "id": "426302", "url": "https://www.iedb.org/epitope/426302", "database": "IEDB", "categories": [ "Other" ] }, { "id": "452987", "url": "https://www.iedb.org/epitope/452987", "database": "IEDB", "categories": [ "Other" ] }, { "id": "508534", "url": "https://www.iedb.org/epitope/508534", "database": "IEDB", "categories": [ "Other" ] }, { "id": "542227", "url": "https://www.iedb.org/epitope/542227", "database": "IEDB", "categories": [ "Other" ] }, { "id": "715901", "url": "https://www.iedb.org/epitope/715901", "database": "IEDB", "categories": [ "Other" ] }, { "id": "717041", "url": "https://www.iedb.org/epitope/717041", "database": "IEDB", "categories": [ "Other" ] }, { "id": "916048", "url": "https://www.iedb.org/epitope/916048", "database": "IEDB", "categories": [ "Other" ] }, { "id": "916487", "url": "https://www.iedb.org/epitope/916487", "database": "IEDB", "categories": [ "Other" ] }, { "id": "927437", "url": "https://www.iedb.org/epitope/927437", "database": "IEDB", "categories": [ "Other" ] }, { "id": "932061", "url": "https://www.iedb.org/epitope/932061", "database": "IEDB", "categories": [ "Other" ] }, { "id": "999084", "url": "https://www.iedb.org/epitope/999084", "database": "IEDB", "categories": [ "Other" ] }, { "id": "P08F94", "url": "https://www.ebi.ac.uk/intact/interactors/id:P08F94*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002909", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002909", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006626", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006626", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011050", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011050", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012334", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012334", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014756", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014756", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019316", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019316", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037524", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037524", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039448", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039448", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR052387", "url": "https://www.ebi.ac.uk/interpro/entry/IPR052387", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR055401", "url": "https://www.ebi.ac.uk/interpro/entry/IPR055401", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5314", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:5314", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "263200", "url": "http://www.omim.org/entry/263200", "database": "MIM", "categories": [ "Other" ] }, { "id": "606702", "url": "http://www.omim.org/entry/606702", "database": "MIM", "categories": [ "Other" ] }, { "id": "NFMVWGS", "url": "https://omabrowser.org/oma/group/NFMVWGS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "P08F94", "url": "https://www.orthodb.org/?gene=P08F94", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46769", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46769", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46769:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46769:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01833", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF01833", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF10162", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF10162", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF13229", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF13229", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF24606", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF24606", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "P08F94", "url": "https://pharos.nih.gov/targets/P08F94", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:P08F94", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:P08F94", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08F94-1", "url": "https://www.uniprot.org/uniprotkb/P08F94-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08F94-2", "url": "https://www.uniprot.org/uniprotkb/P08F94-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTAWLISLMSIEVLLLAVRHLSLHIEPEEGSLAGGTWITVIFDGLELGVLYPNNGSQLEIHLVNVNMVVPALRSVPCDVFPVFLDLPVVTCRTRSVLSEAHEGLYFLEAYFGGQLVSSPNPGPRDSCTFKFSKAQTPIVHQVYPPSGVPGKLIHVYGWIITGRLETFDFDAEYIDSPVILEAQGDKWVTPCSLINRQMGSCYPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVHKKAWLISAKQDLFLYQTHSEILSVFPETGSLGGRTNITITGDFFDNSAQVTIAGIPCDIRHVSPRKIECTTRAPGKDVRLTTPQPGNRGLLFEVGDAVEGLELTEATPGYRWQIVPNASSPFGFWSQEGQPFRARLSGFFVAPETNNYTFWIQADSQASLHFSWSEEPRTKVKVASISVGTADWFDSWEQNRDEGTWQQKTPKLELLGGAMYYLEAEHHGIAPSRGMRIGVQIHNTWLNPDVVTTYLREKHQIRVRAQRLPEVQVLNVSGRGNFFLTWDNVSSQPIPANATAHLIQTTIEELLAVKCKLEPLWSNILLRLGFERGPEVSNSDGDLTSGTEPFCGRFSLRQPRHLVLTPPAAQKGYRLDQYTHLCLAYKGHMNKILKMIVSFTIGFQNMVKNTTCDWSLTRTSPESWQFDCTDLWETCVRCFGDLQPPPANSPVLVHQINLLPLAQETGLFYVDEIIIADTNVTVSQADSGTARPGGNLVESVSVVGSPPVYSVTSWLAGCGTELPLITARSVPTEGTEEGSGLVLVTTQRRQRTSPPLGGHFRIQLPNTVISDVPVQISAHHLHQLLQNNADDFTSRYLNASDFTVKEDLYTCYEHVWTLSWSTQIGDLPNFIRVSDENLTGVNPAAATRVVYDGGVFLGPIFGDMLATANQHTQVVVRVNDVPAHCPGSCSFQYLQGSTPCVHSVWYSIDGDINLMIYITGTGFSGDSQFLQVTVNKTSCKVIFSNQTNVVCQTDLLPVGMHRILMLVRPSGLAISATGEDLFLNVKPRLDMVEPSRAADIGGLWATIRGSSLEGVSLILFGSYSCAINVATSNSSRIQCKVPPRGKDGRIVNVTVIRGDYSAVLPRAFTYVSSLNPVIVTLSRNISNIAGGETLVIGVARLMNYTDLDVEVHVQDALAPVHTQSAWGLEVALPPLPAGLHRISVSINGVSIHSQGVDLHIQYLTEVFSIEPCCGSLLGGTILSISGIGFSRDPALVWVLVGNRSCDIVNLTEASIWCETLPAPQIPDAGAPTVPAAVEVWAGNRFFARGPSPSLVGKGFTFMYEAAATPVVTAMQGEITNSSLSLHVGGSNLSNSVILLGNLNCDVETQSFQGNVSLSGCSIPLHSLEAGIYPLQVRQKQMGFANMSVVLQQFAVMPRIMAIFPSQGSACGGTILTVRGLLLNSRRRSVRVDLSGPFTCVILSLGDHTILCQVSLEGDPLPGASFSLNVTVLVNGLTSECQGNCTLFIREEASPVMDALSTNTSGSLTTVLIRGQRLATTADEPMVFVDDQLPCNVTFFNASHVVCQTRDLAPGPHYLSVFYTRNGYACSGNVSRHFYIMPQVFHYFPKNFSLHGGSLLTIEGTGLRGQNTTSVYIDQQTCLTVNIGAELIRCIVPTGNGSVALEIEVDGLWYHIGVIGYNKAFTPELISISQSDDILTFAVAQISGAANIDIFIGMSPCVGVSGNHTVLQCVVPSLPAGEYHVRGYDCIRGWASSALVFTSRVIITAVTENFGCLGGRLVHVFGAGFSPGNVSAAVCGAPCRVLANATVSAFSCLVLPLDVSLAFLCGLKREEDSCEAARHTYVQCDLTVAMATEQLLESWPYLYICEESSQCLFVPDHWAESMFPSFSGLFISPKLERDEVLIYNSSCNITMETEAEMECETPNQPITVKITEIRKRWGQNTQGNFSLQFCRRWSRTHSWFPERLPQDGDNVTVENGQLLLLDTNTSILNLLHIKGGKLIFMAPGPIELRAHAILVSDGGELRIGSEDKPFQGRAQITLYGSSYSTPFFPYGVKFLAVRNGTLSLHGSLPEVIVTCLRATAHALDTVLALEDAVDWNPGDEVVIISGTGVKGAKPMEEIVTVETVQDTDLYLKSPLRYSHNFTENWVAGEHHILKATVALLSRSITIQGNLTNEREKLLVSCQEANAPEGNLQHCLYSMSEKMLGSRDMGARVIVQSFPEEPSQVQLKGVQFQVLGQAFHKHLSSLTLVGAMRESFIQGCTVRNSFSRGLSMCGTLGLKVDSNVFYNILGHALLVGTCTEMRYISWEAIHGRKDDWSGHGNIIRNNVIIQVSGAEGLSNPEMLTPSGIYICSPTNVIEGNRVCGAGYGYFFHLMTNQTSQAPLLSFTQNIAHSCTRYGLFVYPKFQPPWDNVTGTTLFQSFTVWESAGGAQIFRSSNLRLKNFKVYSCRDFGIDVLESDANTSVTDSLLLGHFAHKGSLCMSSGIKTPKRWELMVSNTTFVNFDLINCVAIRTCSDCSQGQGGFTVKTSQLKFTNSSNLVAFPFPHAAILEDLDGSLSGKNRSHILASMETLSASCLVNSSFGRVVHGSACGGGVLFHRMSIGLANTPEVSYDLTMTDSRNKTTTVNYVRDTLSNPRGWMALLLDQETYSLQSENLWINRSLQYSATFDNFAPGNYLLLVHTDLPPYPDILLRCGSRVGLSFPFLPSPGQNQGCDWFFNSQLRQLTYLVSGEGQVQVILRVKEGMPPTISASTSAPESALKWSLPETWQGVEEGWGGYNNTIPGPGDDVLILPNRTVLVDTDLPFFKGLYVMGTLDFPVDRSNVLSVACMVIAGGELKVGTLENPLEKEQKLLILLRASEGVFCDRMNGIHIDPGTIGVYGKVHLYSAYPKNSWTHLGADIASGNERIIVEDAVDWRPHDKIVLSSSSYEPHEAEVLTVKEVKGHHVRIYERLKHRHIGSVHVTEDGRHIRLAAEVGLLTRNIQIQPDVSCRGRLFVGSFRKSSREEFSGVLQLLNVEIQNFGSPLYSSVEFSNVSAGSWIISSTLHQSCGGGIHAAASHGVLLNDNIVFGTAGHGIDLEGQAYTVTNNLVVLMTQPAWSTIWVAGIKVNQVKDINLHGNVVAGSERLGFHIRGHKCSSCELLWSDNVAHSSLHGLHLYKESGLDNCTRISGFLAFKNFDYGAMLHVENSVEIENITLVDNTIGLLAVVYVFSAPQNSVKKVQIVLRNSVIVATSSSFDCIQDKVKPHSANLTSTDRAPSNPRGGRIGILWPVFTSEPNQWPQEPWHKVRNDHSISGIMKLQDVTFSSFVKSCYSDDLDVCILPNAENSGIMHPITAERTRMLKIKDKNKFYFPSLQPRKDLGKVVCPELDCASPRKYLFKDLDGRALGLPPPVSVFPKTEAEWTASFFNAGTFREEQKCTYQFLMQGFICKQTDQVVLILDSADAIWAIQKLYPVVSVTSGFVDVFSSVNANIPCSTSGSVSTFYSILPIRQITKVCFMDQTPQVLRFFLLGNKSTSKLLLAVFYHELQSPHVFLGESFIPPTLVQSASLLLNESIGANYFNIMDNLLYVVLQGEEPIEIRSGVSIHLALTVMVSVLEKGWEIVILERLTNFLQIGQNQIRFIHEMPGHEETLKAIADSRAKRKRNCPTVTCTSHYRRVGQRRPLMMEMNSHRASPPMTVETISKVIVIEIGDSPTVRSTGMISSLSSNKLQNLAHRVITAQQTGVLENVLNMTIGALLVTQSKGVIGYGNTSSFKTGNLIYIRPYALSILVQPSDGEVGNELPVQPQLVFLDEQNRRVESLGPPSEPWTISASLEGASDSVLKGCTQAETQDGYVSFYNLAVLISGSNWHFIFTVTSPPGVNFTARSKPFAVLPVTRKEKSTIILAASLSSVASWLALSCLVCCWLKRSKSRKTKPEEIPESQTNNQNIHIHISSKRRESQGPKKEDTVVGEDMRMKVMLGKVNQCPHQLMNGVSRRKVSRHIVREEEAAVPAPGTTGITSHGHICAPGAPAQQVYLQETGNWKEGQEQLLRYQLAGQNQLLLLCPDFRQERQQLPGQSRLSKQSGSLGLSQEKKASCGATEAFCLHSVHPETIQEQL", "length": 4074, "header": "sp|P08F94-1|PKHD1_HUMAN Isoform 1 of Fibrocystin OS=Homo sapiens OX=9606 GN=PKHD1 PE=1 SV=1 CANONICAL=P08F94-1" }, "isoforms": [ { "isoform_ac": "P08F94-1", "url": "https://www.uniprot.org/uniprotkb/P08F94/entry#P08F94-1", "sequence": { "sequence": "MTAWLISLMSIEVLLLAVRHLSLHIEPEEGSLAGGTWITVIFDGLELGVLYPNNGSQLEIHLVNVNMVVPALRSVPCDVFPVFLDLPVVTCRTRSVLSEAHEGLYFLEAYFGGQLVSSPNPGPRDSCTFKFSKAQTPIVHQVYPPSGVPGKLIHVYGWIITGRLETFDFDAEYIDSPVILEAQGDKWVTPCSLINRQMGSCYPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVHKKAWLISAKQDLFLYQTHSEILSVFPETGSLGGRTNITITGDFFDNSAQVTIAGIPCDIRHVSPRKIECTTRAPGKDVRLTTPQPGNRGLLFEVGDAVEGLELTEATPGYRWQIVPNASSPFGFWSQEGQPFRARLSGFFVAPETNNYTFWIQADSQASLHFSWSEEPRTKVKVASISVGTADWFDSWEQNRDEGTWQQKTPKLELLGGAMYYLEAEHHGIAPSRGMRIGVQIHNTWLNPDVVTTYLREKHQIRVRAQRLPEVQVLNVSGRGNFFLTWDNVSSQPIPANATAHLIQTTIEELLAVKCKLEPLWSNILLRLGFERGPEVSNSDGDLTSGTEPFCGRFSLRQPRHLVLTPPAAQKGYRLDQYTHLCLAYKGHMNKILKMIVSFTIGFQNMVKNTTCDWSLTRTSPESWQFDCTDLWETCVRCFGDLQPPPANSPVLVHQINLLPLAQETGLFYVDEIIIADTNVTVSQADSGTARPGGNLVESVSVVGSPPVYSVTSWLAGCGTELPLITARSVPTEGTEEGSGLVLVTTQRRQRTSPPLGGHFRIQLPNTVISDVPVQISAHHLHQLLQNNADDFTSRYLNASDFTVKEDLYTCYEHVWTLSWSTQIGDLPNFIRVSDENLTGVNPAAATRVVYDGGVFLGPIFGDMLATANQHTQVVVRVNDVPAHCPGSCSFQYLQGSTPCVHSVWYSIDGDINLMIYITGTGFSGDSQFLQVTVNKTSCKVIFSNQTNVVCQTDLLPVGMHRILMLVRPSGLAISATGEDLFLNVKPRLDMVEPSRAADIGGLWATIRGSSLEGVSLILFGSYSCAINVATSNSSRIQCKVPPRGKDGRIVNVTVIRGDYSAVLPRAFTYVSSLNPVIVTLSRNISNIAGGETLVIGVARLMNYTDLDVEVHVQDALAPVHTQSAWGLEVALPPLPAGLHRISVSINGVSIHSQGVDLHIQYLTEVFSIEPCCGSLLGGTILSISGIGFSRDPALVWVLVGNRSCDIVNLTEASIWCETLPAPQIPDAGAPTVPAAVEVWAGNRFFARGPSPSLVGKGFTFMYEAAATPVVTAMQGEITNSSLSLHVGGSNLSNSVILLGNLNCDVETQSFQGNVSLSGCSIPLHSLEAGIYPLQVRQKQMGFANMSVVLQQFAVMPRIMAIFPSQGSACGGTILTVRGLLLNSRRRSVRVDLSGPFTCVILSLGDHTILCQVSLEGDPLPGASFSLNVTVLVNGLTSECQGNCTLFIREEASPVMDALSTNTSGSLTTVLIRGQRLATTADEPMVFVDDQLPCNVTFFNASHVVCQTRDLAPGPHYLSVFYTRNGYACSGNVSRHFYIMPQVFHYFPKNFSLHGGSLLTIEGTGLRGQNTTSVYIDQQTCLTVNIGAELIRCIVPTGNGSVALEIEVDGLWYHIGVIGYNKAFTPELISISQSDDILTFAVAQISGAANIDIFIGMSPCVGVSGNHTVLQCVVPSLPAGEYHVRGYDCIRGWASSALVFTSRVIITAVTENFGCLGGRLVHVFGAGFSPGNVSAAVCGAPCRVLANATVSAFSCLVLPLDVSLAFLCGLKREEDSCEAARHTYVQCDLTVAMATEQLLESWPYLYICEESSQCLFVPDHWAESMFPSFSGLFISPKLERDEVLIYNSSCNITMETEAEMECETPNQPITVKITEIRKRWGQNTQGNFSLQFCRRWSRTHSWFPERLPQDGDNVTVENGQLLLLDTNTSILNLLHIKGGKLIFMAPGPIELRAHAILVSDGGELRIGSEDKPFQGRAQITLYGSSYSTPFFPYGVKFLAVRNGTLSLHGSLPEVIVTCLRATAHALDTVLALEDAVDWNPGDEVVIISGTGVKGAKPMEEIVTVETVQDTDLYLKSPLRYSHNFTENWVAGEHHILKATVALLSRSITIQGNLTNEREKLLVSCQEANAPEGNLQHCLYSMSEKMLGSRDMGARVIVQSFPEEPSQVQLKGVQFQVLGQAFHKHLSSLTLVGAMRESFIQGCTVRNSFSRGLSMCGTLGLKVDSNVFYNILGHALLVGTCTEMRYISWEAIHGRKDDWSGHGNIIRNNVIIQVSGAEGLSNPEMLTPSGIYICSPTNVIEGNRVCGAGYGYFFHLMTNQTSQAPLLSFTQNIAHSCTRYGLFVYPKFQPPWDNVTGTTLFQSFTVWESAGGAQIFRSSNLRLKNFKVYSCRDFGIDVLESDANTSVTDSLLLGHFAHKGSLCMSSGIKTPKRWELMVSNTTFVNFDLINCVAIRTCSDCSQGQGGFTVKTSQLKFTNSSNLVAFPFPHAAILEDLDGSLSGKNRSHILASMETLSASCLVNSSFGRVVHGSACGGGVLFHRMSIGLANTPEVSYDLTMTDSRNKTTTVNYVRDTLSNPRGWMALLLDQETYSLQSENLWINRSLQYSATFDNFAPGNYLLLVHTDLPPYPDILLRCGSRVGLSFPFLPSPGQNQGCDWFFNSQLRQLTYLVSGEGQVQVILRVKEGMPPTISASTSAPESALKWSLPETWQGVEEGWGGYNNTIPGPGDDVLILPNRTVLVDTDLPFFKGLYVMGTLDFPVDRSNVLSVACMVIAGGELKVGTLENPLEKEQKLLILLRASEGVFCDRMNGIHIDPGTIGVYGKVHLYSAYPKNSWTHLGADIASGNERIIVEDAVDWRPHDKIVLSSSSYEPHEAEVLTVKEVKGHHVRIYERLKHRHIGSVHVTEDGRHIRLAAEVGLLTRNIQIQPDVSCRGRLFVGSFRKSSREEFSGVLQLLNVEIQNFGSPLYSSVEFSNVSAGSWIISSTLHQSCGGGIHAAASHGVLLNDNIVFGTAGHGIDLEGQAYTVTNNLVVLMTQPAWSTIWVAGIKVNQVKDINLHGNVVAGSERLGFHIRGHKCSSCELLWSDNVAHSSLHGLHLYKESGLDNCTRISGFLAFKNFDYGAMLHVENSVEIENITLVDNTIGLLAVVYVFSAPQNSVKKVQIVLRNSVIVATSSSFDCIQDKVKPHSANLTSTDRAPSNPRGGRIGILWPVFTSEPNQWPQEPWHKVRNDHSISGIMKLQDVTFSSFVKSCYSDDLDVCILPNAENSGIMHPITAERTRMLKIKDKNKFYFPSLQPRKDLGKVVCPELDCASPRKYLFKDLDGRALGLPPPVSVFPKTEAEWTASFFNAGTFREEQKCTYQFLMQGFICKQTDQVVLILDSADAIWAIQKLYPVVSVTSGFVDVFSSVNANIPCSTSGSVSTFYSILPIRQITKVCFMDQTPQVLRFFLLGNKSTSKLLLAVFYHELQSPHVFLGESFIPPTLVQSASLLLNESIGANYFNIMDNLLYVVLQGEEPIEIRSGVSIHLALTVMVSVLEKGWEIVILERLTNFLQIGQNQIRFIHEMPGHEETLKAIADSRAKRKRNCPTVTCTSHYRRVGQRRPLMMEMNSHRASPPMTVETISKVIVIEIGDSPTVRSTGMISSLSSNKLQNLAHRVITAQQTGVLENVLNMTIGALLVTQSKGVIGYGNTSSFKTGNLIYIRPYALSILVQPSDGEVGNELPVQPQLVFLDEQNRRVESLGPPSEPWTISASLEGASDSVLKGCTQAETQDGYVSFYNLAVLISGSNWHFIFTVTSPPGVNFTARSKPFAVLPVTRKEKSTIILAASLSSVASWLALSCLVCCWLKRSKSRKTKPEEIPESQTNNQNIHIHISSKRRESQGPKKEDTVVGEDMRMKVMLGKVNQCPHQLMNGVSRRKVSRHIVREEEAAVPAPGTTGITSHGHICAPGAPAQQVYLQETGNWKEGQEQLLRYQLAGQNQLLLLCPDFRQERQQLPGQSRLSKQSGSLGLSQEKKASCGATEAFCLHSVHPETIQEQL", "length": 4074, "header": "sp|P08F94-1|PKHD1_HUMAN Isoform 1 of Fibrocystin OS=Homo sapiens OX=9606 GN=PKHD1 PE=1 SV=1 CANONICAL=P08F94-1" }, "locus": { "chromosome": "6", "start_pos": 52084933, "end_pos": 51619084, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371117.8", "url": "https://www.ensembl.org/id/ENST00000371117.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000360158.3", "url": "https://www.ensembl.org/id/ENSP00000360158.3" } ] } }, { "isoform_ac": "P08F94-2", "url": "https://www.uniprot.org/uniprotkb/P08F94/entry#P08F94-2", "sequence": { "sequence": "MTAWLISLMSIEVLLLAVRHLSLHIEPEEGSLAGGTWITVIFDGLELGVLYPNNGSQLEIHLVNVNMVVPALRSVPCDVFPVFLDLPVVTCRTRSVLSEAHEGLYFLEAYFGGQLVSSPNPGPRDSCTFKFSKAQTPIVHQVYPPSGVPGKLIHVYGWIITGRLETFDFDAEYIDSPVILEAQGDKWVTPCSLINRQMGSCYPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVHKKAWLISAKQDLFLYQTHSEILSVFPETGSLGGRTNITITGDFFDNSAQVTIAGIPCDIRHVSPRKIECTTRAPGKDVRLTTPQPGNRGLLFEVGDAVEGLELTEATPGYRWQIVPNASSPFGFWSQEGQPFRARLSGFFVAPETNNYTFWIQADSQASLHFSWSEEPRTKVKVASISVGTADWFDSWEQNRDEGTWQQKTPKLELLGGAMYYLEAEHHGIAPSRGMRIGVQIHNTWLNPDVVTTYLREKHQIRVRAQRLPEVQVLNVSGRGNFFLTWDNVSSQPIPANATAHLIQTTIEELLAVKCKLEPLWSNILLRLGFERGPEVSNSDGDLTSGTEPFCGRFSLRQPRHLVLTPPAAQKGYRLDQYTHLCLAYKGHMNKILKMIVSFTIGFQNMVKNTTCDWSLTRTSPESWQFDCTDLWETCVRCFGDLQPPPANSPVLVHQINLLPLAQETGLFYVDEIIIADTNVTVSQADSGTARPGGNLVESVSVVGSPPVYSVTSWLAGCGTELPLITARSVPTEGTEEGSGLVLVTTQRRQRTSPPLGGHFRIQLPNTVISDVPVQISAHHLHQLLQNNADDFTSRYLNASDFTVKEDLYTCYEHVWTLSWSTQIGDLPNFIRVSDENLTGVNPAAATRVVYDGGVFLGPIFGDMLATANQHTQVVVRVNDVPAHCPGSCSFQYLQGSTPCVHSVWYSIDGDINLMIYITGTGFSGDSQFLQVTVNKTSCKVIFSNQTNVVCQTDLLPVGMHRILMLVRPSGLAISATGEDLFLNVKPRLDMVEPSRAADIGGLWATIRGSSLEGVSLILFGSYSCAINVATSNSSRIQCKVPPRGKDGRIVNVTVIRGDYSAVLPRAFTYVSSLNPVIVTLSRNISNIAGGETLVIGVARLMNYTDLDVEVHVQDALAPVHTQSAWGLEVALPPLPAGLHRISVSINGVSIHSQGVDLHIQYLTEVFSIEPCCGSLLGGTILSISGIGFSRDPALVWVLVGNRSCDIVNLTEASIWCETLPAPQIPDAGAPTVPAAVEVWAGNRFFARGPSPSLVGKGFTFMYEAAATPVVTAMQGEITNSSLSLHVGGSNLSNSVILLGNLNCDVETQSFQGNVSLSGCSIPLHSLEAGIYPLQVRQKQMGFANMSVVLQQFAVMPRIMAIFPSQGSACGGTILTVRGLLLNSRRRSVRVDLSGPFTCVILSLGDHTILCQVSLEGDPLPGASFSLNVTVLVNGLTSECQGNCTLFIREEASPVMDALSTNTSGSLTTVLIRGQRLATTADEPMVFVDDQLPCNVTFFNASHVVCQTRDLAPGPHYLSVFYTRNGYACSGNVSRHFYIMPQVFHYFPKNFSLHGGSLLTIEGTGLRGQNTTSVYIDQQTCLTVNIGAELIRCIVPTGNGSVALEIEVDGLWYHIGVIGYNKAFTPELISISQSDDILTFAVAQISGAANIDIFIGMSPCVGVSGNHTVLQCVVPSLPAGEYHVRGYDCIRGWASSALVFTSRVIITAVTENFGCLGGRLVHVFGAGFSPGNVSAAVCGAPCRVLANATVSAFSCLVLPLDVSLAFLCGLKREEDSCEAARHTYVQCDLTVAMATEQLLESWPYLYICEESSQCLFVPDHWAESMFPSFSGLFISPKLERDEVLIYNSSCNITMETEAEMECETPNQPITVKITEIRKRWGQNTQGNFSLQFCRRWSRTHSWFPERLPQDGDNVTVENGQLLLLDTNTSILNLLHIKGGKLIFMAPGPIELRAHAILVSDGGELRIGSEDKPFQGRAQITLYGSSYSTPFFPYGVKFLAVRNGTLSLHGSLPEVIVTCLRATAHALDTVLALEDAVDWNPGDEVVIISGTGVKGAKPMEEIVTVETVQDTDLYLKSPLRYSHNFTENWVAGEHHILKATVALLSRSITIQGNLTNEREKLLVSCQEANAPEGNLQHCLYSMSEKMLGSRDMGARVIVQSFPEEPSQVQLKGVQFQVLGQAFHKHLSSLTLVGAMRESFIQGCTVRNSFSRGLSMCGTLGLKVDSNVFYNILGHALLVGTCTEMRYISWEAIHGRKDDWSGHGNIIRNNVIIQVSGAEGLSNPEMLTPSGIYICSPTNVIEGNRVCGAGYGYFFHLMTNQTSQAPLLSFTQNIAHSCTRYGLFVYPKFQPPWDNVTGTTLFQSFTVWESAGGAQIFRSSNLRLKNFKVYSCRDFGIDVLESDANTSVTDSLLLGHFAHKGSLCMSSGIKTPKRWELMVSNTTFVNFDLINCVAIRTCSDCSQGQGGFTVKTSQLKFTNSSNLVAFPFPHAAILEDLDGSLSGKNRSHILASMETLSASCLVNSSFGRVVHGSACGGGVLFHRMSIGLANTPEVSYDLTMTDSRNKTTTVNYVRDTLSNPRGWMALLLDQETYSLQSENLWINRSLQYSATFDNFAPGNYLLLVHTDLPPYPDILLRCGSRVGLSFPFLPSPGQNQGCDWFFNSQLRQLTYLVSGEGQVQVILRVKEGMPPTISASTSAPESALKWSLPETWQGVEEGWGGYNNTIPGPGDDVLILPNRTVLVDTDLPFFKGLYVMGTLDFPVDRSNVLSVACMVIAGGELKVGTLENPLEKEQKLLILLRASEGVFCDRMNGIHIDPGTIGVYGKVHLYSAYPKNSWTHLGADIASGNERIIVEDAVDWRPHDKIVLSSSSYEPHEAEVLTVKEVKGHHVRIYERLKHRHIGSVHVTEDGRHIRLAAEVGLLTRNIQIQPDVSCRGRLFVGSFRKSSREEFSGVLQLLNVEIQNFGSPLYSSVEFSNVSAGSWIISSTLHQSCGGGIHAAASHGVLLNDNIVFGTAGHGIDLEGQAYTVTNNLVVLMTQPAWSTIWVAGIKVNQVKDINLHGNVVAGSERLGFHIRGHKCSSCELLWSDNVAHSSLHGLHLYKESGLDNCTRISGFLAFKNFDYGAMLHVENSVEIENITLVDNTIGLLAVVYVFSAPQNSVKKVQIVLRNSVIVATSSSFDCIQDKVKPHSANLTSTDRAPSNPRGGRIGILWPVFTSEPNQWPQEPWHKVRNDHSISGIMKLQDVTFSSFVKSCYSDDLDVCILPNAENSGIMHPITAERTRMLKIKDKNKFYFPSLQPRKDLGKVVCPELDCASPRKYLFKDLDGRALGLPPPVSVFPKTEAEWTASFFNAVTTEQALKISE", "length": 3396, "header": "sp|P08F94-2|PKHD1_HUMAN Isoform 2 of Fibrocystin OS=Homo sapiens OX=9606 GN=PKHD1 PE=1 SV=1 CANONICAL=P08F94-1" }, "locus": { "chromosome": "6", "start_pos": 52084933, "end_pos": 51721989, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340994.4", "url": "https://www.ensembl.org/id/ENST00000340994.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000341097.4", "url": "https://www.ensembl.org/id/ENSP00000341097.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1065, "start_aa": "Asn", "end_pos": 1065, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1065", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": 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receptor-like protein.", "journal": "Nature genetics", "date": "2002", "authors": "Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" }, { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "11919560", "url": "https://glygen.org/publication/PubMed/11919560" } ] }, { "title": "A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease.", "journal": "Genomics", "date": "2002", "authors": "Xiong Huaqi, Chen Yongxiong, Yi Yajun, Tsuchiya Karen, Moeckel Gilbert, Cheung Joseph, Liang Dan, Tham Kyi, Xu Xiaohu, Chen Xing-Zhen, Pei York, Zhao Zhizhuang Jeo, Wu Guanqing", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": 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Coto E, Consugar M, Kubly V, Malaga S, Navarro M, El-Youssef M, Torres VE, Harris PC", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "12846734", "url": "https://glygen.org/publication/PubMed/12846734" } ] }, { "title": "Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2003", "authors": "Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "12874454", "url": "https://glygen.org/publication/PubMed/12874454" } ] }, { "title": "The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area.", "journal": "J. Am. Soc. Nephrol.", "date": "2004", "authors": "Wang Shixuan, Luo Ying, Wilson Patricia D, Witman George B, Zhou Jing", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "14978161", "url": "https://glygen.org/publication/PubMed/14978161" } ] }, { "title": "PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).", "journal": "Hum. Mutat.", "date": "2004", "authors": "Bergmann Carsten, Senderek Jan, K\u00fcpper Fabian, Schneider Frank, Dornia Christian, Windelen Ellen, Eggermann Thomas, Rudnik-Sch\u00f6neborn Sabine, Kirfel Jutta, Furu Laszlo, Onuchic Luiz F, Rossetti Sandro, Harris Peter C, Somlo Stefan, Guay-Woodford Lisa, Germino Gregory G, Moser Markus, B\u00fcttner Reinhard, Zerres Klaus", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "15108277", "url": "https://glygen.org/publication/PubMed/15108277" } ] }, { "title": "PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).", "journal": "Human mutation", "date": "2004", "authors": "Bergmann C, Senderek J, Schneider F, Dornia C, Kupper F, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Moser M, Buttner R, Zerres K", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "15108281", "url": "https://glygen.org/publication/PubMed/15108281" } ] }, { "title": "Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm.", "journal": "Kidney Int.", "date": "2004", "authors": "Menezes Lu\u00eds F C, Cai Yiqiang, Nagasawa Yasuyuki, Silva Ana M G, Watkins Mary L, Da Silva Aline M, Somlo Stefan, Guay-Woodford Lisa M, Germino Gregory G, Onuchic Luiz F", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "15458427", "url": "https://glygen.org/publication/PubMed/15458427" } ] }, { "title": "Fibrocystin interacts with CAML, a protein involved in Ca2+ signaling.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2005", "authors": "Nagano Junko, Kitamura Kenichiro, Hujer Kristine M, Ward Christopher J, Bram Richard J, Hopfer Ulrich, Tomita Kimio, Huang Chunfa, Miller R Tyler", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "16243292", "url": "https://glygen.org/publication/PubMed/16243292" } ] }, { "title": "Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.", "journal": "Pediatric transplantation", "date": "2006", "authors": "Prelog M, Bergmann C, Ausserlechner MJ, Fischer H, Margreiter R, Gassner I, Brunner A, Jungraithmayr TC, Zerres K, Sergi C, Zimmerhackl LB", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "16677362", "url": "https://glygen.org/publication/PubMed/16677362" } ] }, { "title": "Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase C.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hiesberger T, Gourley E, Erickson A, Koulen P, Ward CJ, Masyuk TV, Larusso NF, Harris PC, Igarashi P", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "16956880", "url": "https://glygen.org/publication/PubMed/16956880" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Polyductin undergoes notch-like processing and regulated release from primary cilia.", "journal": "Human molecular genetics", "date": "2007", "authors": "Kaimori JY, Nagasawa Y, Menezes LF, Garcia-Gonzalez MA, Deng J, Imai E, Onuchic LF, Guay-Woodford LM, Germino GG", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "17470460", "url": "https://glygen.org/publication/PubMed/17470460" } ] }, { "title": "Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function.", "journal": "J. Am. Soc. 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{ "title": "Isolated polycystic liver disease genes define effectors of polycystin-1 function.", "journal": "The Journal of clinical investigation", "date": "2017", "authors": "Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "reference": [ { "type": "PubMed", "id": "28375157", "url": "https://glygen.org/publication/PubMed/28375157" } ] }, { "title": "Deciphering HLA-I motifs across HLA peptidomes improves neo-antigen predictions and identifies allostery regulating HLA specificity.", "journal": "PLoS computational biology", "date": "2017-08", "authors": "Bassani-Sternberg Michal, Chong Chlo\u00e9, Guillaume Philippe, Solleder Marthe, Pak HuiSong, Gannon Philippe O, Kandalaft Lana E, Coukos George, Gfeller David", 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"database": "IEDB", "id": "2000696", "url": "https://www.iedb.org/epitope/2000696" } ], "reference": [ { "type": "PubMed", "id": "32938616", "url": "https://glygen.org/publication/PubMed/32938616" } ] }, { "title": "Mild Acid Elution and MHC Immunoaffinity Chromatography Reveal Similar Albeit Not Identical Profiles of the HLA Class I Immunopeptidome.", "journal": "Journal of proteome research", "date": "2021-01-01", "authors": "Sturm Theo, Sautter Benedikt, W\u00f6rner Tobias P, Stevanovi\u0107 Stefan, Rammensee Hans-Georg, Planz Oliver, Heck Albert J R, Aebersold Ruedi", "evidence": [ { "database": "IEDB", "id": "916487", "url": "https://www.iedb.org/epitope/916487" } ], "reference": [ { "type": "PubMed", "id": "33141586", "url": "https://glygen.org/publication/PubMed/33141586" } ] }, { "title": "The Impact of Biomaterial Cell Contact on the Immunopeptidome.", "journal": "Frontiers in bioengineering and biotechnology", "date": "2020", "authors": "Ghosh Michael, Hartmann Hanna, Jakobi Meike, M\u00e4rz L\u00e9o, Bichmann Leon, Freudenmann Lena K, M\u00fchlenbruch Lena, Segan S\u00f6ren, Rammensee Hans-Georg, Schneiderhan-Marra Nicole, Shipp Christopher, Stevanovi\u0107 Stefan, Joos Thomas O", "evidence": [ { "database": "IEDB", "id": "916487", "url": "https://www.iedb.org/epitope/916487" } ], "reference": [ { "type": "PubMed", "id": "33392160", "url": "https://glygen.org/publication/PubMed/33392160" } ] }, { "title": "The Effect of Interferons on Presentation of Defective Ribosomal Products as HLA Peptides.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Komov Liran, Melamed Kadosh Dganit, Barnea Eilon, Admon Arie", "evidence": [ { "database": "IEDB", "id": "1554835", "url": "https://www.iedb.org/epitope/1554835" } ], "reference": [ { "type": "PubMed", "id": "34087483", "url": "https://glygen.org/publication/PubMed/34087483" } ] }, { "title": "Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.", "journal": "Clinical and experimental nephrology", "date": "2022", "authors": "Ishiko S, Morisada N, Kondo A, Nagai S, Aoto Y, Okada E, Rossanti R, Sakakibara N, Nagano C, Horinouchi T, Yamamura T, Ninchoji T, Kaito H, Hamada R, Shima Y, Nakanishi K, Matsuo M, Iijima K, Nozu K", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "34536170", "url": "https://glygen.org/publication/PubMed/34536170" } ] }, { "title": "HLA Allele-Specific Quantitative Profiling of Type 1 Diabetic B Lymphocyte Immunopeptidome.", "journal": "Journal of proteome research", "date": "2022-01-07", "authors": "Sudhir Putty-Reddy, Lin Tai-Du, Zhang Qibin", "evidence": [ { "database": "IEDB", "id": "1858451", "url": "https://www.iedb.org/epitope/1858451" } ], "reference": [ { "type": "PubMed", "id": "34932366", "url": "https://glygen.org/publication/PubMed/34932366" } ] }, { "title": "Immunopeptidomic analysis of influenza A virus infected human tissues identifies internal proteins as a rich source of HLA ligands.", "journal": "PLoS pathogens", "date": "2022-01", "authors": "Nicholas Ben, Bailey Alistair, Staples Karl J, Wilkinson Tom, Elliott Tim, Skipp Paul", "evidence": [ { "database": "IEDB", "id": "542227", "url": "https://www.iedb.org/epitope/542227" }, { "database": "IEDB", "id": "2005446", "url": "https://www.iedb.org/epitope/2005446" }, { "database": "IEDB", "id": "2011018", "url": "https://www.iedb.org/epitope/2011018" }, { "database": "IEDB", "id": "2012323", "url": "https://www.iedb.org/epitope/2012323" }, { "database": "IEDB", "id": "2012324", "url": "https://www.iedb.org/epitope/2012324" }, { "database": "IEDB", "id": "2013994", "url": "https://www.iedb.org/epitope/2013994" }, { "database": "IEDB", "id": "2016440", "url": "https://www.iedb.org/epitope/2016440" }, { "database": "IEDB", "id": "2016989", "url": "https://www.iedb.org/epitope/2016989" }, { "database": "IEDB", "id": "2020543", "url": "https://www.iedb.org/epitope/2020543" }, { "database": "IEDB", "id": "2021933", "url": "https://www.iedb.org/epitope/2021933" }, { "database": "IEDB", "id": "2022149", "url": "https://www.iedb.org/epitope/2022149" }, { "database": "IEDB", "id": "2022977", "url": "https://www.iedb.org/epitope/2022977" }, { "database": "IEDB", "id": "2028008", "url": "https://www.iedb.org/epitope/2028008" }, { "database": "IEDB", "id": "2030715", "url": "https://www.iedb.org/epitope/2030715" }, { "database": "IEDB", "id": "2031282", "url": "https://www.iedb.org/epitope/2031282" }, { "database": "IEDB", "id": "2034691", "url": "https://www.iedb.org/epitope/2034691" }, { "database": "IEDB", "id": "2035670", "url": "https://www.iedb.org/epitope/2035670" }, { "database": "IEDB", "id": "2035896", "url": "https://www.iedb.org/epitope/2035896" }, { "database": "IEDB", "id": "2038861", "url": "https://www.iedb.org/epitope/2038861" }, { "database": "IEDB", "id": "2039179", "url": "https://www.iedb.org/epitope/2039179" }, { "database": "IEDB", "id": "2047407", "url": "https://www.iedb.org/epitope/2047407" }, { "database": "IEDB", "id": "2054057", "url": "https://www.iedb.org/epitope/2054057" }, { "database": "IEDB", "id": "2056076", "url": "https://www.iedb.org/epitope/2056076" } ], "reference": [ { "type": "PubMed", "id": "35051231", "url": "https://glygen.org/publication/PubMed/35051231" } ] }, { "title": "Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.", "journal": "Molecular genetics & genomic medicine", "date": "2022-08", "authors": "Giacobbe Carola, Di Dato Fabiola, Palma Daniela, Amitrano Michele, Iorio Raffaele, Fortunato Giuliana", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "35715958", "url": "https://glygen.org/publication/PubMed/35715958" } ] }, { "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": "Comprehensive characterization of PKHD1 mutation in human colon cancer.", "journal": "Cancer medicine", "date": "2024-01", "authors": "Han Lu, Gong Fangming, Wu Xuxiaochen, Tang Wanxiangfu, Bao Hua, Wang Yue, Wang Daizhenru, Sun Yulan, Li Peng", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "38178618", "url": "https://glygen.org/publication/PubMed/38178618" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08F94", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08F94" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.", "journal": "Gene", "date": "2024-11-15", "authors": "Abdelwahed Mayssa, Benoit Valerie, Maalej Bayen, Hilbert Pascale, Calemard Laurence Michel, Kamoun Hassen, Ammar-Keskes Leila, Belguith Neila", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "38830515", "url": "https://glygen.org/publication/PubMed/38830515" } ] }, { "title": "FBXO31-mediated ubiquitination of OGT maintains O-GlcNAcylation homeostasis to restrain endometrial malignancy.", "journal": "Nature communications", "date": "2025-02-02", "authors": "Zhang Na, Meng Yang, Mao Song, Ni Huiling, Huang Canhua, Shen Licong, Fu Kun, Lv Lu, Yu Chunhong, Meekrathok Piyanat, Kuang Chunmei, Chen Fang, Zhang Yu, Yuan Kai", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08F94", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08F94" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "pathway": [ { "id": "hsa:5314", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:5314", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K2W1-1", "protein_name": "Fibrocystin", "gene_name": "Pkhd1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "VMPAWRISLLSVELLLLANAYSSFRIEPTEGSLAGGTWITLVFDGLETSILYPNNGSQLAIDLVNVATPALKIPCDISPLFVDLPVVTCQTRSLPSEAPEGLYSLEIRSGDQLLGSPCARLLDNCTFKFSKEQTPVLYQVNPSSGVPGEVVHVYGWVITDRMEIFDPDVDYMESPLILEAGGDKWLTPCSLINRKTGICFPIQEEHGLGTVQCRVEGSYIGSQNVSFSVFNKGRSMVHKEAWLISAKQELFLYQTYPEIHSVFPKVGSLGGRTDITITGDFFDPSARVTIAGIPCDIRHVSPRKIECTTRAPGNGARLTAPQAGNRGLLFEVGNAVKDEELTEATPGYRWQIVPNASSPSGFWSKEGRPFRARLSGFFVAPETNNYTFWIQADSQAFLRFSSSEEPRMKVEVASIAVGTADWFDSWEQNGNEGSWQQKTNKLELQGGAKYYLEAEQHGIAPSRGMRIAVQIHNTWLNPDVVNTYLLEKHQIRAQAQRLPEIQVLNMSGKGNFFLTWGNVSSQPVPANATAQQIQTIIEELLVVKCNLVPLSARVLLWLGFEQGLDGSRSDGVLTSSTEPFCGRFSLGQLRHLILSPGAVSKGYQLDRYPYLCFAYRGHMNRTLDMTVSFLFGFQNVMKNITCDWSLMEPHPESWHFTCNNLWDTCVRHSEELQSSLANTPLLVHRIDIFPVVPEADLLYVDEIILADTNVTVSQADSGVARPGGNVVESVSVVGVPPVYSIASWMAGCGSELPLITACYVPTQGTGEGSELIEVTAKRLQRTSPPLGGHFSLHLSDTVIPDVPVHVSARQLHKLLQDNADESTSGYLNADDFIVTKDQNSCYEHVWTLSWTTQIGDLPNFIRVSDQNLTGLNPTITARVVYDGGVFLGPILGDTLATANQQTQVTVQVNDIPAHCSGSCSFQYQRASTPSVDCVWYSLGSDVNLLVHFTGNGFPRDAQFLQVTVINTSCEVIFSNETNVACELALLPVGVHRVFMLVRPSGLALNASGEGLFLRVEPRLDAVEPSTGAEIGGWWVTLRGSSLEGVSLVLFGTRSCVIDVIRSNSQQIQCKVPPRGKDGYTVNVTVINGDHSTVLARAFTYVSSLNPVIVSLSRNRSNIAGGEILFLGMTLMVNYTDLNVQIYIQNTSAQVLAKTAWGLEVLLPPLLPGIYVISAFINGISIRSQGVDLHIQYLTEVFSMEPCSGSLLGGTILRLSGAGLGRDPALIRVLVDNRPCDTVKLTEVNIWCETPRVLLPPRADVLTVPASVEIWAGNTSFVGKAFIFTYEAAATPVVTAMWGELMNNSVRFYVEGNNLSDSVILLGSLKCDLQVQLFGDNMNLSGCSLLLHSLEAGVYALQVRHKRMGFANMSAVPQKFELSPQIIDIFPTHGSIYGGTVLTVKGTAFRSRRRSVHVDLSGPFTCVILSLGDHTVLCQTKFVGDQFSETSLALNITVLVNGLTSKCEGNCTLFLEEAATPIVDALTISISGSLTTVLMRGQRLGSAGEPTAFVDGQLLCHTTFFNTSYVACQMRDLAPGFHYLSAVRTSAGYACLNSVSRNFFVVPQVFDYFPKDFSIHGGSLLTIKGTTLRGWKTTFVYVGQQACLTVNISSEFIQCIVPAGNGSAALEIDVDGVLYHMGFVDYSSIFTPELLSVSRSHDILTFTVARISGAANVDILIGTSPCLDVAGNRTILRCMVPLLPAGEYAVTGYDHSRGWVSSTLILVLRATVTSVTENYGCLGGRLLHVLGAGFSPGNISAAVCGAPCQVLANATVSAFSCLVLPLDASLAFLCNLRHAEDSCGVSRPTYLQCDLTVSVGMERLPGSWPYVYLCEESSQGLFVPDHQIFLSFSGLFLSPKVERDEVLIYNSSCNITMETEAEMECGTPNQPITAKITEIQKSRGQNTQGNFSFQFCRRWSRPHSWFPHRVPQDGDNVTVETSHLLLLDANTSLLNSLHIKGGKLIFMEPGPIDLRAHSILITDGGELHIGSEDKPFQGKARIKLYGSVHSTSFFPYGVKFLAVRNGTLSLHGSVPEVTFTYLRAAACAGDTVLALEEAVAWHPGDEAVISSGATVEGAEATEEVVVVETVHDADLHLRNPLRYSYNFTENWVTGVNHILKATVALLSRNIIVQGNLTLERVKLLDSCQEAGAAEGNLKHCLYSKSEKMLGARNLGARVIIQSFPEEPSLVKLKGVQFRDLGQAFHKHLSSLTLVGAMRGSYLHSCSMWGSFSRGLSIHRTWGLKVENNIFYKIVGHALLVGSYMDRSFSTSEAVIGRKNGWWEEGSMIRNNVIINVSGAEGLSSSEMLAPAGIYTFSPTSAIEGNRVCAAGYGYVLHLVTSQTVQAPLLSFNWNTAHSCTRYGLLVYPEFQPPWNNDTGFTLFQNFMVWGSAGGAQIFRSNNLHLRNFQVYACRDFGIDILESDTNTLVTDSFLLGHFTHEGSLCMSVGIKTPKRWGLTISNTTFVNFDLNCVAIRTCSGCSQGQGGFPVKTRQLKFVNSSNLVAFPFPHAAVLQDLDGSLSGKNGSHVLASMETLSDTCLTNASFSQIVSGSVCGEAVLFHRMSIGLAKSLDVPKNLTMTDIRNRTITINYVDDTLSNSYGWMALLLDQETYLLQFEGPWTDGSLQYSATFDNFAPGNYLLLMHRDLLPYPDILLRCGSRVGQSLPSHPLPSRDGACDWFFHRQLRQLTYLVSGEGQVHVFLQVKHGAPPTVSASTSVSESALKWSLPETWQDVEKGWGGYNHTIPGPGDDVLILPNKTVLVDTDLPVLRCLYVMGTLEFPVDRSNVLSVACLLIAGGELKVGTLENPLGKDQRLLILLRASEEIFCDRFDGIRVDPGTIGVYGKLRLHSAYPKKSWVHLGADIAPGNERIIVHNAVDWQPHDKIVLSSSSYEPHEAEVLTVKEVKDHHIRIYERLKHRHIGSAHTLEDSRQICLAAEVGLLTRNIRIQSDSSCRGRLLVGSFRKSSGEEFSGILQLLNVEIQNMGSPLYASIEFTGVSAGSWVISSTVHQSCTVGIHASSSRGMVLNDNIVFGTKGHGIDVEGQNYSLTNNLVILSMQSANSLPWVAGIKVNYAEDIILHGNVVAGSERLGFHVRGHGCSSEVLWSDNVVHSSLHGIHLYKKREPNNCTGVSGFLAFKNFDYGAMVQTENSVDIQNITLVDNTVGLLAISYVSSAPLRSGSTLQITLRNSVIVATSSSFDCIQDRKAPQSANWTSTDRAPSNPRGGRIGILWPVSASEPNGWPQEPWHKVRGGHSVPGIMKLQDVTFSSFVKSCYSDDLDVCILTNEHSTGIMYPITAERTRMLKIKDKNKFYFLPLQSGKDLVGTICPASSDCEIPRKYLFTDLDGRTLGLSPPVSVFPRIEEGWTGSFFNTGIFREEQKCTFRAMIQGFFCKQTEHAVLILDNVDVTWTIPKFYPLVSITNGFVDTFSIVKDSGLCFPTSSPSTFYSILPTRQMTKVCFPERTPPFLHFFLLANRRASKLILAVFYNEIQSPYVFLDKSFIPPTPVESAFSLLDEPVGANYFDIMNNLLYVVLQGEEAVEIRSSVSIHLALTVTFSVLEKGWEKAVLESLRGFFQIDQNQIRLTLEMPGNKETLKAIANSEGKRKRSCPTVTCAVPSSRYVQRRPLMAEMASFTITPATTLETFSKVIVFEIGDLPNARDSEFIQSLPSNRLQKLAHQVITAQQTGVLENVLGMTVGALLVAQSEGVTGYRNASSLITGNQIYTRPSVVSILVQPSDGEVGIELPIQPRLIFLDEKNERVEALGLPSEPWIISVSLEGTSESMLKGCTQAETQDGYVTFSRLAVLTSGSNWHLVFTVTFPPGTNLTARSKTFAVLPVAGKERSTIILALSLCSVASWVALSCLICCWFKKSKTRKIKPEDISESQAKEQKKNTHISSKPRELQVKTAKEDAMMGEDMRMKVMEGRQNQFSQHSMDGVSKRKVSRRAVPEERTATPALKIPRTTCVPGALPQQLTLPEPGNWQEAQQQLLRYQLAGRDQLLLLCPDLRQERQQGQEPSQLNKGSGRCMGLSQEKATCVPTETFCLHTAPPETIQ", "length": 4052 }, "evidence": [ { "id": "RGD:1308476", "url": "https://alliancegenome.org/gene/RGD:1308476#orthology", "database": "AGR" }, { "id": "MGI:2155808", "url": "https://alliancegenome.org/gene/MGI:2155808#orthology", "database": "AGR" }, { "id": "HGNC:9016", "url": "https://alliancegenome.org/gene/HGNC:9016#orthology", "database": "AGR" }, { "id": "P08F94", "url": "https://omabrowser.org/oma/group/P08F94/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "E9PZ36-1", "protein_name": "Fibrocystin", "gene_name": "Pkhd1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MMLAWLVSLLSMEVLLLAKPYSSFQFEPAEGSLAGGTWITVVFDGLDRSILYPNNGSQLQIDLVSVAIPTLRIPCDVSPAFVDLPVVTCQTRSLPSEADAGPYSLEMRSGEQVLGTPCPGSLDSCTFKFSKDQTPVLYQVYPASGVPGEVVSVYGRVITTWLETFDPDVDYIESPLILEAREDKWLTPCSLINRQTGSCFPIQEEHGLGNVQCRVEGDYIGSQNVSFSVFNKGRSMVHKEAWLISAKQELFLYQTYPEILSVFPKVGSLGGRTDIIITGDFFDPSARVTIAGIPCDIRYVSPRKIECTTRAPGNEARLTAPQAGNRGLRFEVGDATKDVELTEATPGYRWQIVPNASSPSGFWSKEGRPFRARLSGFFVAPQTNNYTFWIQADSQASLCFSSSEEPRTKVEVASVGVGTADWFDSWEQIGNEGSWHQKTTKLELQGGAKYYLEAEQHGIAPSRGMRIGVQIHNTWLNPDVVNTYLLEKHQIRARAQRLPEIQVLHVSGKGNFFLTWGNVSSQPVPANATAQQIQTTIEELLVVKCNLAPFSAHVLLRLGFEQGLEGSRSDGVRTSSTEPFCGRFSLGQLGHLILIPEAADKGYQLDRYPYLCLAYRGHMNKTLDMTVSFLFGFQTIMKNITCDWSLTDPHPESWQFTCINLWDTCLCHSEDIQSSLANTPLLAHRIDIRPVVPEAGLLYVDEIILADTNVTVSQADSGRACPGGNVVESVSVVGVPPVYSISSWLAGCGSELPLITACSVSTEGTGDGSELIEVTAQRLQRTSPPLGGHFFLYLSDTVIPDVPVRMSARQLHKLLQDSADESTSGYLNAGDFTVTEDLNSCYEHVWTLSWTTQTGDLPNFIRVSDQNLTGVNPTVTARVVYDGGVFLGPIFGDMLATANQQTQVAVQVNDIPAYCSGSCSFQYQQESTPSVDHVWYSLGSDVNLLVHFTGTGFPRDTQFLQVTVNKTSCEVLFSNETNVACELALLPVGVHQIFMLVIPSGLAVHASGEDLLLHVEPRLDAVEPSTAAEIGGRWVTLRGSSLEGVSLVLFGTQSCVIDAIRSNSQQIQCKVPPRGKDGYTVNVTVISGDHSTVLARAFTYVSSLNPVIVSLSRNRSSIAGGEILFLGMSLLVNYTDLDVQIHVQDTSAQVLSQTAWGLEVVLPPLVPGIHVISAFINGVSIRSQGVDLYIQYLTEVFSVEPCSGSLLGGTLLSLLGTGLGRDPALIRVLVDNHPCDIVNLTEVNIWCETPPAVLPPRADVLTVLASVEIWAGNTSFFHGPSLVGKGFTFTYEAAATPVVTAMWGEFRNNSVRFYVEGSNISDSVILLGSLKCELEVQFFGDSMNLSGCFFPLHSLEAGVYTLQVRHKRMGFANMSVVPQKFELSPQIIAIFPTHGSKCGGTVLTVKGMAFSSRKRSVHVDISGPFACMILSLEDHTVLCQTRFVGDQFSEASLALNITVLVNGLTSKCKGNCTLFIEEAATPIVDALTISISGSLTMVLMRGRRLATTADEPIAFVDDQLPCHTTFFNTSHVACQIRDLAPGFHYLSAVHTSAGYACLNSVSRNFFIVPQVLDYFPKDFSIHGGSLLTIKGTALRGWKATVVYVGRQACLTVNFSSDFIQCIVPAGNGSAALEIDVNGVLYHIGLVDYSSIFTPELLSVSRSQDILTFTVARISGAANVDIFIGTSPCLGVAGNRTVLQCMVPLLPAGEYLVTGYDHSRGWASSTLILVLRATVTSVTKNYGCLGGRLLHVLGAGFSPGNISAAVCGAPCQVLANATVSAFSCLVLPLHVSLAFLCDLRHAEDSCKVRSSTYLRCDLTVSMGTERLPGSWPYVYLCEESSLCLFEPDHWTESVFPSFSGLFLSPKVERDEVLIYNSSCNITMETEAEMECEMPNQPITAKITEIQKSWGQNTQGNFSFQFCRRWSRPHSWFPQRVPHDGDSVTVETGHLLLLDANTSFLNSLHIKGGKLIFMDPGPIELRAHSILITDGGELHIGSEEKPFQGKARIKIYGSVHSTPFFPYGVKFLAVRNGTLSLHGSVPEVTVTYLQAAAHAGDKVLTLGEAVDWKPGDEAVITSGMTVAGAEATEVVVVETVHNADLHLRNPLRYSYDFRENWVAGENPILKPTVALLSRNIIIQGNFTLERVKLLNSCQEANTAKGNLKHCLYSKSEKMLGARDLGARVIIQSFPEEPSFVKLKGVQFRDLGQAFHKHLSSLALVGAMRGSYIQSCSVWNSFSRGLSMHRTWGLKVDSNVFYKIVGHALLLGSYLDGRFSTSETVTGRKNGWWEQGSTIRNNVIISVSAAEGLSGSEMLAPAGIYTFSPTNVMEGNRVCAAGYGYVFHLVTSQTLQAPLLSFNWNTAHSCTRYGLLVYPKFQPPWNNDTGFTLFQNFMVWGSAGGAQIFRSNNLHLKNFQVYACRDFGIDILESDANTLITDSFLLGHFTHKGSLCMSAGIKTPQRWELTISNTTFVNFDGNCVAIRTCSGCFQGQGGYTVKTRQLKFVNSSNLVAFPFPHAAVLEDLDGSLSGKNGSHVLASMETLSDTCLTNASFSQIVPGSVCGEAVLFHRMSIALANSLDVPKNLTITDISNKTITVNYVEDTLSNYYGWMALLLDQETYSLQFESPWMNRSLQYSATFDSFAPGNYLLIMHRDLPPYPDILLRCGSQVGHSLPFHPLPSQDRACDWFFNRQLRQLTYLVSGEGQVKVFLQLKPGVPPSVSASTSVPESASRWSLPETWQDVEKGWGGYNHTIPGPGDDVLILPNKTVLVDTDLPVLRCLYVMGTLEFPVDRSNVLSVACLLIAGGELKVGTLENPLEKDQRLLIFLRASEEVVCDYFEGIHVDPGTIGVYGKLRLHSAYPKKSWVHLGADIAPGNERIIVHNAVDWQPHDTIVLSSSSYEAHEAEVLTVKEVKGHHIRIYERLKHRHIGSTHTMEDGQQVHLAAEVGLLTRNIRIQPDSSCRGRLLVGSFRKSSGEDFSGVLQLLNVEIQNMGLPLYSSIEFTGVSAGSWVISSTVHQSCSVGIHASSSHGVILTDNVVFGTNGHGIDVEGQNYSLTNNLVILTMQSANSSPWVAGIKVNYAEDIILHGNVVAGSERLGFHVGGHGCSSEVLWSDNVVHSSLHGLHLYKKHESNNCTGVSGFMAFKNFDYGAMVQTENSVDIQNITLVDNTVGLLAITYVSSALLSSVSTVQITLRNSVIVATSSSFDCIHDRKAPQSANWTSTDRAPSNPRGGRIGILWPVSASEPNAWPQEPWHKVRSRHSVPGIMKLQDVTFSSFVKSCYSNDLDVCILPNEYSTGVMYPITAERTRMLGIKDKNKFYFPVLQSSKDLVGTICPTLVCEYPRKYLFTDLDGRTLGLPPPVSVFPRTEEEWTGSFLNTGIFREEQKCTFRAMNQGFFCKQTEHAVLILDNVDATWTIPKSHPLVSVTNGFVDTFSIVKDSDLCPPTSSLSTFYSILPTRQMTKVCFPEQTPPFLRFLLLGNQRASKLILAVFYNEIQSPHVFLDKSFIPPTPLESAFSLLAEPSGANYFDIMNNLLYVVLQGEEPVEIHSSVSIHLALTVTFSVLEKGWERAMLESLSDFFQIDPNQIRLTLEMPGNKETLEAIANSERKRKRNCPSVTCGGPSIRYGQRRPLMAEMTSLKITPATTLETFSKVIVIEVGDLPNIRNSEPIQSLPSNRLQRLVNQVITAQQTGALENVLGMTVGALLVTQSKGVTGYRNASSLITGNLIYTRPSELSILVQPSDGEVGIELPVQPRLVFLDEKNERVESLGLPSEPWIISVSLEGASESVLKGCTLAETRDGYVTFSRLAVLISGSNWHLFFTVISPPGTNFTARSRTFVVLPVASKERSTIILALSLCSVASWVALSCLVCCWFKKSKTRKIKPEDISESQAKEQKKNTHNSSKPRGLQAKTAKENTLMGEDMRMKVMQGMQSQFPQHSMDGVSKRKVSRLAVTEERTTTPAPKIPRITCVPGSLAQQLTLQEPGNWQEAQQQLLRYQLAGRNQLLLLRPDLRQERKQGQEPSQLDKGSDCTGLSQEKATCIPTETFSLHTAPPETIQ", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "homeostatic process", "id": "GO:0042592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042592", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "regulation of TOR signaling", "id": "GO:0032006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032006", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "regulation of establishment of planar polarity", "id": "GO:0090175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090175", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "regulation of cell-matrix adhesion", "id": "GO:0001952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001952", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "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": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "establishment of centrosome localization", "id": "GO:0051660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051660", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "regulation of cholangiocyte proliferation", "id": "GO:1904054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904054", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 15, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", 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(PubMed:16956880). Cleaved by a probable proprotein convertase which produces an extracellular domain (polyductin extracellular domain, (PECD)) and a C-terminal fragment (polyductin transmembrane fragment (PTM)) which are tethered together by disulfide bonds (PubMed:17470460). This extracellular domain (PECD) is then shed from the primary cilium by activation of a member of the ADAM metalloproteinase disintegrins family, resulting in concomitant release of an intra-cellular C-terminal fragment (ICD) via a gamma-secretase-dependent process (PubMed:17470460). The proteolytic cleavage of the C-terminal intracellular fragment (ICD) is controlled by cytosolic calcium concentration and activation of PKC (PubMed:16956880).", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprotkb/P08F94" }, { "database": "PubMed", "id": "17470460", "url": "https://glygen.org/publication/PubMed/17470460" }, { "database": "PubMed", "id": "16956880", "url": "https://glygen.org/publication/PubMed/16956880" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [], "lectin_list": [], "domain_list": [ { "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P08F94" }, { "id": "PRU00817", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00817" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "G8 1", "eco_id": "ECO_0000255", "start_pos": 1932, "end_pos": 2053, "start_aa": "His", 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