{ "uniprot_canonical_ac": "P01833-1", "uniprot_ac": "P01833", "uniprot_id": "PIGR_HUMAN", "mass": { "chemical_mass": 83284.0, "monoisotopic_mass": 83284.0 }, "refseq": { "ac": "NP_002635", "name": "polymeric immunoglobulin receptor precursor", "summary": "This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002635" }, "gene_names": [ { "name": "PIGR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01833", "id": "P01833" }, { "name": "PIGR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002635", "id": "NP_002635" } ], "protein_names": [ { "name": "Polymeric immunoglobulin receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01833" }, { "name": "Hepatocellular carcinoma-associated protein TB6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01833" }, { "name": "PIgR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01833" }, { "name": "Poly-Ig receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01833" }, { "name": "hepatocellular carcinoma associated protein TB6; poly-Ig receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002635", "id": "NP_002635" }, { "name": "polymeric immunoglobulin receptor precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002635", "id": "NP_002635" } ], "function": [ { "annotation": "Expression of polymeric immunoglobulin receptor (PIGR) and the effect of PIGR overexpression on breast cancer cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002635" }, { "database": "PubMed", "id": "37789066", "url": "https://glygen.org/publication/PubMed/37789066" } ] }, { "annotation": "Hepatic pIgR-mediated secretion of IgA limits bacterial translocation and prevents ethanol-induced liver disease in mice.", "evidence": [ { "database": "RefSeq", "id": "NP_002635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002635" }, { "database": "PubMed", "id": "36690432", "url": "https://glygen.org/publication/PubMed/36690432" } ] }, { "annotation": "Mediates selective transcytosis of polymeric IgA and IgM across mucosal epithelial cells. Binds polymeric IgA and IgM at the basolateral surface of epithelial cells. The complex is then transported across the cell to be secreted at the apical surface. During this process, a cleavage occurs that separates the extracellular (known as the secretory component) from the transmembrane segment.", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833#function" }, { "database": "PubMed", "id": "15530357", "url": "https://glygen.org/publication/PubMed/15530357" }, { "database": "PubMed", "id": "10229845", "url": "https://glygen.org/publication/PubMed/10229845" }, { "database": "PubMed", "id": "9379029", "url": "https://glygen.org/publication/PubMed/9379029" } ] }, { "annotation": "Polymeric immunoglobulin receptor (pIgR) in cancer. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002635" }, { "database": "PubMed", "id": "37897659", "url": "https://glygen.org/publication/PubMed/37897659" } ] }, { "annotation": "Polymeric immunoglobulin receptor and galectin-3-binding protein are raised in biliary atresia: Reveals a proteomic-based study.", "evidence": [ { "database": "RefSeq", "id": "NP_002635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002635" }, { "database": "PubMed", "id": "37467891", "url": "https://glygen.org/publication/PubMed/37467891" } ] }, { "annotation": "This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_002635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002635" } ] }, { "annotation": "Through its N-linked glycans ensures anchoring of secretory IgA (sIgA) molecules to mucus lining the epithelial surface to neutralize extracellular pathogens (PubMed:12150896). On its own (free form) may act as a non-specific microbial scavenger to prevent pathogen interaction with epithelial cells (PubMed:16543244).", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833#function" }, { "database": "PubMed", "id": "12150896", "url": "https://glygen.org/publication/PubMed/12150896" }, { "database": "PubMed", "id": "16543244", "url": "https://glygen.org/publication/PubMed/16543244" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs970716778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs970716778" }, { "id": "rs970716778", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs970716778#frequency_tab" }, { "id": "rs970716778", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs970716778" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 137, "end_pos": 137, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDI).", "chr_id": "1", "chr_pos": "206937730", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01833", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01833" }, { "id": "rs149018674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149018674" }, { "id": "rs149018674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149018674" }, { "id": "rs149018674", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149018674" }, { "id": "rs149018674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149018674#frequency_tab" }, { "id": "rs149018674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149018674" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 178, "end_pos": 178, "subjects_tested": "470", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DSS->NSS). In dbSNP: rs149018674.", "chr_id": "1", "chr_pos": "206937608", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D178", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1487109329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487109329" }, { "id": "rs1487109329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1487109329" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 186, "end_pos": 186, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->KYT).", "chr_id": "1", "chr_pos": "206937582", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N186", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139139378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139139378" }, { "id": "rs139139378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139139378" }, { "id": "rs139139378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139139378#frequency_tab" }, { "id": "rs139139378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139139378" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 188, "end_pos": 188, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYK).", "chr_id": "1", "chr_pos": "206937577", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139139378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139139378" }, { "id": "rs139139378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139139378" }, { "id": "rs139139378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139139378#frequency_tab" }, { "id": "rs139139378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139139378" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 188, "end_pos": 188, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYR).", "chr_id": "1", "chr_pos": "206937577", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382613772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382613772" }, { "id": "rs1382613772", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382613772" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 378, "end_pos": 378, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "1", "chr_pos": "206935731", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S378", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767674762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767674762" }, { "id": "rs767674762", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767674762" }, { "id": "rs767674762", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767674762#frequency_tab" }, { "id": "rs767674762", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767674762" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 469, "end_pos": 469, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "1", "chr_pos": "206934719", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs549375857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549375857" }, { "id": "rs549375857", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549375857" }, { "id": "rs549375857", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs549375857#frequency_tab" }, { "id": "rs549375857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs549375857" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 471, "end_pos": 471, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVK).", "chr_id": "1", "chr_pos": "206934713", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs549375857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549375857" }, { "id": "rs549375857", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549375857" }, { "id": "rs549375857", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs549375857#frequency_tab" }, { "id": "rs549375857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs549375857" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 471, "end_pos": 471, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVM).", "chr_id": "1", "chr_pos": "206934713", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750944757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750944757" }, { "id": "rs750944757", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750944757" }, { "id": "rs750944757", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750944757#frequency_tab" }, { "id": "rs750944757", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750944757" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 501, "end_pos": 501, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNM).", "chr_id": "1", "chr_pos": "206934623", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T501", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs549356645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549356645" }, { "id": "rs549356645", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs549356645" }, { "id": "rs549356645", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549356645" }, { "id": "rs549356645", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs549356645#frequency_tab" }, { "id": "rs549356645", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs549356645" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 572, "end_pos": 572, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "1", "chr_pos": "206933158", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "D572", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140909087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140909087" }, { "id": "rs140909087", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140909087" }, { "id": "rs140909087", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140909087#frequency_tab" }, { "id": "rs140909087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140909087" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 614, "end_pos": 614, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "206933031", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T614", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1288986631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1288986631" }, { "id": "rs1288986631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1288986631" }, { "id": "22842228", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22842228" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 619, "end_pos": 619, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "1", "chr_pos": "206933017", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D619", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs770021353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770021353" }, { "id": "rs770021353", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770021353" }, { "id": "rs770021353", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770021353#frequency_tab" }, { "id": "rs770021353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770021353" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 624, "end_pos": 624, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "206933001", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S624", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1400462908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400462908" }, { "id": "rs1400462908", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1400462908#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 627, "end_pos": 627, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "1", "chr_pos": "206932993", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S627", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01833", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01833" } ], "glycoeffect": [], "start_pos": 631, "end_pos": 631, 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"https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P01833", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01833" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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"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 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01833" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"categories": [ "Protein" ] }, { "id": "P01833-1", "url": "https://www.uniprot.org/uniprot/P01833-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLLFVLTCLLAVFPAISTKSPIFGPEEVNSVEGNSVSITCYYPPTSVNRHTRKYWCRQGARGGCITLISSEGYVSSKYAGRANLTNFPENGTFVVNIAQLSQDDSGRYKCGLGINSRGLSFDVSLEVSQGPGLLNDTKVYTVDLGRTVTINCPFKTENAQKRKSLYKQIGLYPVLVIDSSGYVNPNYTGRIRLDIQGTGQLLFSVVINQLRLSDAGQYLCQAGDDSNSNKKNADLQVLKPEPELVYEDLRGSVTFHCALGPEVANVAKFLCRQSSGENCDVVVNTLGKRAPAFEGRILLNPQDKDGSFSVVITGLRKEDAGRYLCGAHSDGQLQEGSPIQAWQLFVNEESTIPRSPTVVKGVAGGSVAVLCPYNRKESKSIKYWCLWEGAQNGRCPLLVDSEGWVKAQYEGRLSLLEEPGNGTFTVILNQLTSRDAGFYWCLTNGDTLWRTTVEIKIIEGEPNLKVPGNVTAVLGETLKVPCHFPCKFSSYEKYWCKWNNTGCQALPSQDEGPSKAFVNCDENSRLVSLTLNLVTRADEGWYWCGVKQGHFYGETAAVYVAVEERKAAGSRDVSLAKADAAPDEKVLDSGFREIENKAIQDPRLFAEEKAVADTRDQADGSRASVDSGSSEEQGGSSRALVSTLVPLGLVLAVGAVAVGVARARHRKNVDRVSIRSYRTDISMSDFENSREFGANDNMGASSITQETSLGGKEEFVATTESTTETKEPKKAKRSSKEEAEMAYKDFLLQSSTVAAEAQDGPQEA", "length": 764, "header": "sp|P01833-1|PIGR_HUMAN Isoform 1 of Polymeric immunoglobulin receptor OS=Homo sapiens OX=9606 GN=PIGR PE=1 SV=4 CANONICAL=P01833-1" }, "isoforms": [ { "isoform_ac": "P01833-1", "url": "", "sequence": { "sequence": "MLLFVLTCLLAVFPAISTKSPIFGPEEVNSVEGNSVSITCYYPPTSVNRHTRKYWCRQGARGGCITLISSEGYVSSKYAGRANLTNFPENGTFVVNIAQLSQDDSGRYKCGLGINSRGLSFDVSLEVSQGPGLLNDTKVYTVDLGRTVTINCPFKTENAQKRKSLYKQIGLYPVLVIDSSGYVNPNYTGRIRLDIQGTGQLLFSVVINQLRLSDAGQYLCQAGDDSNSNKKNADLQVLKPEPELVYEDLRGSVTFHCALGPEVANVAKFLCRQSSGENCDVVVNTLGKRAPAFEGRILLNPQDKDGSFSVVITGLRKEDAGRYLCGAHSDGQLQEGSPIQAWQLFVNEESTIPRSPTVVKGVAGGSVAVLCPYNRKESKSIKYWCLWEGAQNGRCPLLVDSEGWVKAQYEGRLSLLEEPGNGTFTVILNQLTSRDAGFYWCLTNGDTLWRTTVEIKIIEGEPNLKVPGNVTAVLGETLKVPCHFPCKFSSYEKYWCKWNNTGCQALPSQDEGPSKAFVNCDENSRLVSLTLNLVTRADEGWYWCGVKQGHFYGETAAVYVAVEERKAAGSRDVSLAKADAAPDEKVLDSGFREIENKAIQDPRLFAEEKAVADTRDQADGSRASVDSGSSEEQGGSSRALVSTLVPLGLVLAVGAVAVGVARARHRKNVDRVSIRSYRTDISMSDFENSREFGANDNMGASSITQETSLGGKEEFVATTESTTETKEPKKAKRSSKEEAEMAYKDFLLQSSTVAAEAQDGPQEA", "length": 764, "header": "sp|P01833-1|PIGR_HUMAN Isoform 1 of Polymeric immunoglobulin receptor OS=Homo sapiens OX=9606 GN=PIGR PE=1 SV=4 CANONICAL=P01833-1" }, "locus": { "chromosome": "1", "start_pos": 206940531, "end_pos": 206930321, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356495.5", "url": "https://www.ensembl.org/id/ENST00000356495.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000348888.4", "url": "https://www.ensembl.org/id/ENSP00000348888.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G02030ZB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "evidence": [ { "id": "550", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/550" }, { "id": "29741879", "database": "PubMed", "url": 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Genet.", "date": "1991", "authors": "Krajci P, Grzeschik KH, Geurts van Kessel AH, Olaisen B, Brandtzaeg P", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833" } ], "reference": [ { "type": "PubMed", "id": "1682231", "url": "https://glygen.org/publication/PubMed/1682231" } ] }, { "title": "Determination of the molecular structure of the human free secretory component.", "journal": "Biol. Chem. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001580", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833" } ], "pmid": "" }, { "name": "azurophil granule membrane", "id": "GO:0035577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035577", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833" } ], "pmid": "" }, { "name": "secretory IgA immunoglobulin complex", "id": "GO:0071751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071751", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "polymeric immunoglobulin receptor N-glycosylated 1 (human)", "definition": "A polymeric immunoglobulin receptor (human) that has been N-glycosylated at the residue equivalent to Asn-186 of the amino acid sequence represented by UniProtKB:P01833-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01833-1, Asn-186, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000052044", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052044" } ] }, { "name": "polymeric immunoglobulin receptor N-glycosylated 2 (human)", "definition": "A polymeric immunoglobulin receptor (human) that has been N-glycosylated at the residue equivalent to Asn-469 of the amino acid sequence represented by UniProtKB:P01833-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P01833-1, Asn-469, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000052045", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052045" } ] }, { "name": "polymeric immunoglobulin receptor N-glycosylated 3 (human)", "definition": "A polymeric immunoglobulin receptor (human) that has been N-glycosylated at the residue equivalent to Asn-499 of the amino acid sequence represented by UniProtKB:P01833-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01833-1, Asn-499, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000052046", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052046" } ] }, { "name": "polymeric immunoglobulin receptor N-glycosylated 4 (human)", "definition": "A polymeric immunoglobulin receptor (human) that has been N-glycosylated at the residue equivalent to Asn-499 of the amino acid sequence represented by UniProtKB:P01833-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P01833-1, Asn-499, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000052047", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052047" } ] } ], "site_annotation": [ { "start_pos": 135, "end_pos": 137, "annotation": "n_glycosylation_sequon" }, { "start_pos": 186, "end_pos": 188, "annotation": "n_glycosylation_sequon" }, { "start_pos": 421, "end_pos": 423, "annotation": "n_glycosylation_sequon" }, { "start_pos": 469, "end_pos": 471, "annotation": "n_glycosylation_sequon" }, { "start_pos": 499, "end_pos": 501, "annotation": "n_glycosylation_sequon" }, { "start_pos": 83, "end_pos": 85, "annotation": "n_glycosylation_sequon" }, { "start_pos": 90, "end_pos": 92, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated. N-glycosylation is required for anchoring IgA molecules to mucus, but is not necessary for Ig binding.", "evidence": [ { "database": "UniProtKB", "id": "P01833", "url": "https://www.uniprot.org/uniprot/P01833" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" }, { "database": "PubMed", "id": "6526384", "url": "https://glygen.org/publication/PubMed/6526384" }, { "database": "PubMed", "id": "18780401", "url": "https://glygen.org/publication/PubMed/18780401" }, { "database": "PubMed", "id": "16740002", "url": "https://glygen.org/publication/PubMed/16740002" }, { "database": "PubMed", "id": "19139490", "url": "https://glygen.org/publication/PubMed/19139490" }, { "database": "PubMed", "id": "12150896", "url": "https://glygen.org/publication/PubMed/12150896" }, { "database": "PubMed", "id": "15084671", "url": 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