{ "uniprot_canonical_ac": "O43586-1", "uniprot_ac": "O43586", "uniprot_id": "PPIP1_HUMAN", "mass": { "chemical_mass": 47591.0, "monoisotopic_mass": 47591.0 }, "refseq": { "ac": "NP_001308064", "name": "proline-serine-threonine phosphatase-interacting protein 1 isoform 2", "summary": "This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" }, "gene_names": [ { "name": "PSTPIP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43586", "id": "O43586" }, { "name": "CD2BP1; CD2BP1L; CD2BP1S; H-PIP; PAPAS; PSTPIP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064", "id": "NP_001308064" }, { "name": "CD2BP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43586", "id": "O43586" }, { "name": "PSTPIP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064", "id": "NP_001308064" } ], "protein_names": [ { "name": "Proline-serine-threonine phosphatase-interacting protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43586" }, { "name": "CD2 cytoplasmic tail-binding protein; CD2 antigen-binding protein 1; PEST phosphatase-interacting protein 1; CD2-binding protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064", "id": "NP_001308064" }, { "name": "CD2-binding protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43586" }, { "name": "H-PIP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43586" }, { "name": "PEST phosphatase-interacting protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43586" }, { "name": "proline-serine-threonine phosphatase-interacting protein 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064", "id": "NP_001308064" } ], "function": [ { "annotation": "CD2BP1-mediated biochemical pathway(s) may function in common inflammatory disorders with apparent etiological overlap, such as rheumatoid arthritis and inflammatory bowel disease", "evidence": [ { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" }, { "database": "PubMed", "id": "11971877", "url": "https://glygen.org/publication/PubMed/11971877" } ] }, { "annotation": "Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.", "evidence": [ { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" }, { "database": "PubMed", "id": "36692132", "url": "https://glygen.org/publication/PubMed/36692132" } ] }, { "annotation": "Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allow PTPN12 to dephosphorylate WAS. Has the potential to physically couple CD2 and CD2AP to WAS. Acts downstream of CD2 and CD2AP to recruit WAS to the T-cell:APC contact site so as to promote the actin polymerization required for synapse induction during T-cell activation (By similarity). Down-regulates CD2-stimulated adhesion through the coupling of PTPN12 to CD2. Also has a role in innate immunity and the inflammatory response. Recruited to inflammasomes by MEFV. Induces formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Binding to MEFV allows MEFV to bind to PYCARD and facilitates pyroptosome formation. Regulates endocytosis and cell migration in neutrophils.", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586#function" }, { "database": "PubMed", "id": "9857189", "url": "https://glygen.org/publication/PubMed/9857189" }, { "database": "PubMed", "id": "17964261", "url": "https://glygen.org/publication/PubMed/17964261" }, { "database": "PubMed", "id": "19584923", "url": "https://glygen.org/publication/PubMed/19584923" }, { "database": "PubMed", "id": "19109554", "url": "https://glygen.org/publication/PubMed/19109554" }, { "database": "PubMed", "id": "18480402", "url": "https://glygen.org/publication/PubMed/18480402" } ] }, { "annotation": "PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" }, { "database": "PubMed", "id": "37628706", "url": "https://glygen.org/publication/PubMed/37628706" } ] }, { "annotation": "Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" }, { "database": "PubMed", "id": "37013170", "url": "https://glygen.org/publication/PubMed/37013170" } ] }, { "annotation": "Strong inflammatory signatures in the neutrophils of PAMI syndrome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" }, { "database": "PubMed", "id": "36203570", "url": "https://glygen.org/publication/PubMed/36203570" } ] }, { "annotation": "This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" } ] } ], "disease": [ { "disease_id": "DOID:0080519", "recommended_name": { "id": "DOID:0080519", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080519", "name": "PAPA syndrome", "description": "A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24." }, "synonyms": [ { "id": "DOID:0080519", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080519", "name": "pyogenic arthritis, pyoderma gangrenosum and acne", "description": "" }, { "id": "MONDO:0011462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011462", "name": "pyogenic arthritis-pyoderma gangrenosum-acne syndrome", "description": "A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin." }, { "id": "MONDO:0011462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011462", "name": "familial recurrent arthritis", "description": "" }, { "id": "MONDO:0011462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011462", "name": "fra", "description": "" }, { "id": "MONDO:0011462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011462", "name": "papa", "description": "" }, { "id": "MONDO:0011462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011462", "name": "papa syndrome", "description": "" }, { "id": "MONDO:0011462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011462", "name": "Papas", "description": "" }, { "id": "MONDO:0011462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011462", "name": "pyogenic STERILE arthritis, pyoderma gangrenosum, and acne", "description": "" }, { "id": "MONDO:0011462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011462", "name": "pyogenic arthritis, pyoderma gangrenosum and acne", "description": "" }, { "id": "MONDO:0011462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011462", "name": "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne", "description": "" }, { "id": "MIM:604416", "resource": "MIM", "url": "https://www.omim.org/entry/604416", "name": "PAPA syndrome", "description": "PAPA syndrome" } ], "evidence": [ { "id": "604416", "database": "MIM", "url": "https://www.omim.org/entry/604416" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 232, "end_pos": 232, "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes binding to MEFV. Cytoplasmic filaments are finer with fewer branches.", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" }, { "database": "PubMed", "id": "14595024", "url": "https://glygen.org/publication/PubMed/14595024" }, { "database": "PubMed", "id": "19584923", "url": "https://glygen.org/publication/PubMed/19584923" } ] }, { "start_pos": 266, "end_pos": 266, "sequence_org": "D", "sequence_mut": "N", "comment": "No effect on filament formation.", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" }, { "database": "PubMed", "id": "19584923", "url": "https://glygen.org/publication/PubMed/19584923" } ] }, { "start_pos": 345, "end_pos": 345, "sequence_org": "Y", "sequence_mut": "F", "comment": "Decreases binding to MEFV.", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" }, { "database": "PubMed", "id": "14595024", "url": "https://glygen.org/publication/PubMed/14595024" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "47.77", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "69.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "67.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "75.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "74.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140368" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43586", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43586" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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"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, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43586", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43586" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"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", 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"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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43586", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43586" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43586", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43586" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43586", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43586" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43586", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43586" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43586", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43586" } ], "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": [ { "database": "BioXpress", "id": "O43586", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43586" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43586", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43586" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"https://www.ebi.ac.uk/interpro/entry/IPR030777", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR031160", "url": "https://www.ebi.ac.uk/interpro/entry/IPR031160", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036028", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036028", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9051", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9051", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604416", "url": "http://www.omim.org/entry/604416", "database": "MIM", "categories": [ "Other" ] }, { "id": "606347", "url": "http://www.omim.org/entry/606347", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43586", "url": "https://www.nextprot.org/entry/NX_O43586", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43586", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43586", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "PIEYQNY", "url": "https://omabrowser.org/oma/group/PIEYQNY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3740727at2759", "url": "http://www.orthodb.org/?query=3740727at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14167", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14167", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14167:SF48", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14167:SF48", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23065", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23065", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23065:SF51", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23065:SF51", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2DIL", "url": "https://www.rcsb.org/structure/2DIL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AAL", "url": "https://www.rcsb.org/structure/7AAL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AAM", "url": "https://www.rcsb.org/structure/7AAM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AAN", "url": "https://www.rcsb.org/structure/7AAN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00018", "url": "http://pfam.xfam.org/family/PF00018", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00611", "url": "http://pfam.xfam.org/family/PF00611", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43586", "url": "https://pharos.nih.gov/targets/O43586", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43586", "url": "http://purl.obolibrary.org/obo/PR_O43586", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9660826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660826", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "B4E1Z9", "url": "https://www.uniprot.org/uniprot/B4E1Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4E1Z9-1", "url": "https://www.uniprot.org/uniprot/B4E1Z9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKF1", "url": "https://www.uniprot.org/uniprot/H0YKF1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKF1-1", "url": "https://www.uniprot.org/uniprot/H0YKF1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKY3", "url": "https://www.uniprot.org/uniprot/H0YKY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKY3-1", "url": "https://www.uniprot.org/uniprot/H0YKY3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLI2", "url": "https://www.uniprot.org/uniprot/H0YLI2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLI2-1", "url": "https://www.uniprot.org/uniprot/H0YLI2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLM9", "url": "https://www.uniprot.org/uniprot/H0YLM9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLM9-1", "url": "https://www.uniprot.org/uniprot/H0YLM9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLW8", "url": "https://www.uniprot.org/uniprot/H0YLW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLW8-1", "url": "https://www.uniprot.org/uniprot/H0YLW8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLX8", "url": "https://www.uniprot.org/uniprot/H0YLX8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLX8-1", "url": "https://www.uniprot.org/uniprot/H0YLX8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YNR2", "url": "https://www.uniprot.org/uniprot/H0YNR2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YNR2-1", "url": "https://www.uniprot.org/uniprot/H0YNR2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YNS1", "url": "https://www.uniprot.org/uniprot/H0YNS1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YNS1-1", "url": "https://www.uniprot.org/uniprot/H0YNS1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KPG6", "url": "https://www.uniprot.org/uniprot/J3KPG6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KPG6-1", "url": "https://www.uniprot.org/uniprot/J3KPG6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43586-1", "url": "https://www.uniprot.org/uniprot/O43586-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43586-2", "url": "https://www.uniprot.org/uniprot/O43586-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL", "length": 416, "header": "sp|O43586-1|PPIP1_HUMAN Isoform 1 of Proline-serine-threonine phosphatase-interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "isoforms": [ { "isoform_ac": "B4E1Z9-1", "url": "", "sequence": { "sequence": "MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGSLPRPRPSAQNLVSPAV", "length": 136, "header": "tr|B4E1Z9-1|B4E1Z9_HUMAN Computationally mapped isoform of cDNA FLJ60215, highly similar to Proline-serine-threoninephosphatase-interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77027853, "end_pos": 76995574, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559750.5", "url": "https://www.ensembl.org/id/ENST00000559750.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453531.1", "url": "https://www.ensembl.org/id/ENSP00000453531.1" } ] } }, { "isoform_ac": "H0YKF1-1", "url": "", "sequence": { "sequence": "XDAGRLQHRRRHRQFHPGQEHGHRAPRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL", "length": 133, "header": "tr|H0YKF1-1|H0YKF1_HUMAN Computationally mapped isoform of Proline-serine-threonine phosphatase interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77037175, "end_pos": 77032317, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558870.1", "url": "https://www.ensembl.org/id/ENST00000558870.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452779.1", "url": "https://www.ensembl.org/id/ENSP00000452779.1" } ] } }, { "isoform_ac": "H0YKY3-1", "url": "", "sequence": { "sequence": "MNDRCPRPGSSSLARGCLLSVADGAGREGGPGPALPGLGRCCWRLALHQASLWQESELCRGRRLRMMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPGEVRLADSAASSSGALPELLRSGGHPADQQPWHTAVLRHDKEVLWTAARKSQDHFVGSFCCVHRDPDPHPRAE", "length": 417, "header": "tr|H0YKY3-1|PPIP1_HUMAN Computationally mapped isoform of Proline-serine-threonine phosphatase-interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77035838, "end_pos": 76994790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559785.5", "url": "https://www.ensembl.org/id/ENST00000559785.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452986.1", "url": "https://www.ensembl.org/id/ENSP00000452986.1" } ] } }, { "isoform_ac": "H0YLI2-1", "url": "", "sequence": { "sequence": "MASCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDA", "length": 145, "header": "tr|H0YLI2-1|PPIP1_HUMAN Computationally mapped isoform of Proline-serine-threonine phosphatase-interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77028598, "end_pos": 77015987, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559859.5", "url": "https://www.ensembl.org/id/ENST00000559859.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453218.1", "url": "https://www.ensembl.org/id/ENSP00000453218.1" } ] } }, { "isoform_ac": "H0YLM9-1", "url": "", "sequence": { "sequence": "MNDRCPRPGSSSLARGCLLSVADGAGREGGPGPALPGLGRCCWRLALHQASLWQESELCRGRRLRMMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRE", "length": 175, "header": "tr|H0YLM9-1|PPIP1_HUMAN Computationally mapped isoform of Proline-serine-threonine phosphatase-interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77025580, "end_pos": 76994790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558407.5", "url": "https://www.ensembl.org/id/ENST00000558407.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453268.1", "url": "https://www.ensembl.org/id/ENSP00000453268.1" } ] } }, { "isoform_ac": "H0YLW8-1", "url": "", "sequence": { "sequence": "MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRT", "length": 208, "header": "tr|H0YLW8-1|PPIP1_HUMAN Computationally mapped isoform of Proline-serine-threonine phosphatase-interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=8 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77030572, "end_pos": 76995574, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559161.5", "url": "https://www.ensembl.org/id/ENST00000559161.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453372.1", "url": "https://www.ensembl.org/id/ENSP00000453372.1" } ] } }, { "isoform_ac": "H0YLX8-1", "url": "", "sequence": { "sequence": "AQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPP", "length": 252, "header": "tr|H0YLX8-1|PPIP1_HUMAN Computationally mapped isoform of Proline-serine-threonine phosphatase-interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77032393, "end_pos": 77018458, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559856.1", "url": "https://www.ensembl.org/id/ENST00000559856.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000453382.1", "url": "https://www.ensembl.org/id/ENSP00000453382.1" } ] } }, { "isoform_ac": "H0YNR2-1", "url": "", "sequence": { "sequence": "MMPQLQFKDAFWASQSAGITSVSHRARLAIEHFEDCSH", "length": 38, "header": "tr|H0YNR2-1|PPIP1_HUMAN Computationally mapped isoform of Proline-serine-threonine phosphatase-interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77007924, "end_pos": 76995574, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560223.5", "url": "https://www.ensembl.org/id/ENST00000560223.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454118.1", "url": "https://www.ensembl.org/id/ENSP00000454118.1" } ] } }, { "isoform_ac": "H0YNS1-1", "url": "", "sequence": { "sequence": "MCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKSQERCCASSQGHSVLLA", "length": 101, "header": "tr|H0YNS1-1|H0YNS1_HUMAN Computationally mapped isoform of Proline-serine-threonine phosphatase interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77027796, "end_pos": 77018214, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560796.5", "url": "https://www.ensembl.org/id/ENST00000560796.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454127.1", "url": "https://www.ensembl.org/id/ENSP00000454127.1" } ] } }, { "isoform_ac": "J3KPG6-1", "url": "", "sequence": { "sequence": "MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL", "length": 413, "header": "tr|J3KPG6-1|J3KPG6_HUMAN Computationally mapped isoform of Proline-serine-threonine phosphatase interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77037173, "end_pos": 76995574, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379595.7", "url": "https://www.ensembl.org/id/ENST00000379595.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000368914.3", "url": "https://www.ensembl.org/id/ENSP00000368914.3" } ] } }, { "isoform_ac": "O43586-1", "url": "", "sequence": { "sequence": "MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL", "length": 416, "header": "sp|O43586-1|PPIP1_HUMAN Isoform 1 of Proline-serine-threonine phosphatase-interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77037173, "end_pos": 76995574, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558012.6", "url": "https://www.ensembl.org/id/ENST00000558012.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000452746.1", "url": "https://www.ensembl.org/id/ENSP00000452746.1" } ] } }, { "isoform_ac": "O43586-2", "url": "", "sequence": { "sequence": "MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPGEVRLADSAASRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL", "length": 397, "header": "sp|O43586-2|PPIP1_HUMAN Isoform 2 of Proline-serine-threonine phosphatase-interacting protein 1 OS=Homo sapiens OX=9606 GN=PSTPIP1 PE=1 SV=1 CANONICAL=O43586-1" }, "locus": { "chromosome": "15", "start_pos": 77037173, "end_pos": 76995574, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559295.5", "url": "https://www.ensembl.org/id/ENST00000559295.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452743.1", "url": "https://www.ensembl.org/id/ENSP00000452743.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43586", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43586" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 318, "end_pos": 318, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "site_lbl": "Ser318" }, { "start_pos": 345, "end_pos": 345, "kinase_uniprot_canonical_ac": "P00519-1", "kinase_gene_name": "ABL1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43586", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43586" }, { "database": "PubMed", "id": "11163214", "url": "https://glygen.org/publication/PubMed/11163214" } ], "site_lbl": "Tyr345" }, { "start_pos": 345, "end_pos": 345, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" }, { "database": "phospho.ELM", "id": "O43586", "url": "http://phospho.elm.eu.org/byAccession/O43586.html" }, { "database": "iPTMnet", "id": "O43586", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43586" }, { "database": "PubMed", "id": "11163214", "url": "https://glygen.org/publication/PubMed/11163214" } ], "site_lbl": "Tyr345" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Nucleotide receptors: an emerging family of regulatory molecules in blood cells.", "journal": "Blood", "date": "2001", "authors": "Di Virgilio F, Chiozzi P, Ferrari D, Falzoni S, Sanz JM, Morelli A, Torboli M, Bolognesi G, Baricordi OR", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "11157473", "url": "https://glygen.org/publication/PubMed/11157473" } ] }, { "title": "Cytoskeletal protein PSTPIP1 directs the PEST-type protein tyrosine phosphatase to the c-Abl kinase to mediate Abl dephosphorylation.", "journal": "Molecular cell", "date": "2000", "authors": "Cong F, Spencer S, Cote JF, Wu Y, Tremblay ML, Lasky LA, Goff SP", "evidence": [ { "database": "iPTMnet", "id": "O43586-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43586-1" } ], "reference": [ { "type": "PubMed", "id": "11163214", "url": "https://glygen.org/publication/PubMed/11163214" } ] }, { "title": "Differential assembly of rat purinergic P2X7 receptor in immune cells of the brain and periphery.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kim M, Spelta V, Sim J, North RA, Surprenant A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660826" } ], "reference": [ { "type": "PubMed", "id": "11313357", "url": "https://glygen.org/publication/PubMed/11313357" } ] }, { "title": "Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Richards N, Schaner P, Diaz A, Stuckey J, Shelden E, Wadhwa A, Gumucio DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "11498534", "url": "https://glygen.org/publication/PubMed/11498534" } ] }, { "title": "PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Manji GA, Wang L, Geddes BJ, Brown M, Merriam S, Al-Garawi A, Mak S, Lora JM, Briskin M, Jurman M, Cao J, DiStefano PS, Bertin J", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "11786556", "url": "https://glygen.org/publication/PubMed/11786556" } ] }, { "title": "The PYRIN-CARD protein ASC is an activating adaptor for caspase-1.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Srinivasula SM, Poyet JL, Razmara M, Datta P, Zhang Z, Alnemri ES", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "11967258", "url": "https://glygen.org/publication/PubMed/11967258" } ] }, { "title": "Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.", "journal": "Human molecular genetics", "date": "2002", "authors": "Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" }, { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" } ], "reference": [ { "type": "PubMed", "id": "11971877", "url": "https://glygen.org/publication/PubMed/11971877" } ] }, { "title": "The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta.", "journal": "Molecular cell", "date": "2002", "authors": "Martinon F, Burns K, Tschopp J", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "12191486", "url": "https://glygen.org/publication/PubMed/12191486" } ] }, { "title": "Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Dowds TA, Masumoto J, Chen FF, Ogura Y, Inohara N, Nunez G", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "12615073", "url": "https://glygen.org/publication/PubMed/12615073" } ] }, { "title": "Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, Kastner DL", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" }, { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "14595024", "url": "https://glygen.org/publication/PubMed/14595024" } ] }, { "title": "Human Sgt1 binds HSP90 through the CHORD-Sgt1 domain and not the tetratricopeptide repeat domain.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Lee YT, Jacob J, Michowski W, Nowotny M, Kuznicki J, Chazin WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "14761955", "url": "https://glygen.org/publication/PubMed/14761955" } ] }, { "title": "Pannexin-1 mediates large pore formation and interleukin-1beta release by the ATP-gated P2X7 receptor.", "journal": "The EMBO journal", "date": "2006", "authors": "Pelegrin P, Surprenant A", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "17036048", "url": "https://glygen.org/publication/PubMed/17036048" } ] }, { "title": "Reconstituted NALP1 inflammasome reveals two-step mechanism of caspase-1 activation.", "journal": "Molecular cell", "date": "2007", "authors": "Faustin B, Lartigue L, Bruey JM, Luciano F, Sergienko E, Bailly-Maitre B, Volkmann N, Hanein D, Rouiller I, Reed JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "17349957", "url": "https://glygen.org/publication/PubMed/17349957" } ] }, { "title": "A crucial function of SGT1 and HSP90 in inflammasome activity links mammalian and plant innate immune responses.", "journal": "Nature immunology", "date": "2007", "authors": "Mayor A, Martinon F, De Smedt T, Petrilli V, Tschopp J", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "17435760", "url": "https://glygen.org/publication/PubMed/17435760" } ] }, { "title": "Regulation of the bioavailability of thioredoxin in the lens by a specific thioredoxin-binding protein (TBP-2).", "journal": "Experimental eye research", "date": "2007", "authors": "Liyanage NP, Fernando MR, Lou MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "17603038", "url": "https://glygen.org/publication/PubMed/17603038" } ] }, { "title": "NALP inflammasomes: a central role in innate immunity.", "journal": "Seminars in immunopathology", "date": "2007", "authors": "Martinon F, Gaide O, Petrilli V, Mayor A, Tschopp J", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "17703304", "url": "https://glygen.org/publication/PubMed/17703304" } ] }, { "title": "Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.", "journal": "Molecular cell", "date": "2007", "authors": "Yu JW, Fernandes-Alnemri T, Datta P, Wu J, Juliana C, Solorzano L, McCormick M, Zhang Z, Alnemri ES", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "reference": [ { "type": "PubMed", "id": "17964261", "url": "https://glygen.org/publication/PubMed/17964261" } ] }, { "title": "The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Cooper KM, Bennin DA, Huttenlocher A", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "reference": [ { "type": "PubMed", "id": "18480402", "url": "https://glygen.org/publication/PubMed/18480402" } ] }, { "title": "Human protein factory for converting the transcriptome into an in vitro-expressed proteome.", "journal": "Nat. Methods", "date": "2008", "authors": "Goshima Naoki, Kawamura Yoshifumi, Fukumoto Akiko, Miura Aya, Honma Reiko, Satoh Ryohei, Wakamatsu Ai, Yamamoto Jun-ichi, Kimura Kouichi, Nishikawa Tetsuo, Andoh Taichi, Iida Yuki, Ishikawa Kumiko, Ito Emi, Kagawa Naoko, Kaminaga Chie, Kanehori Kei-ichi, Kawakami Bunsei, Kenmochi Kiyokazu, Kimura Rie, Kobayashi Miki, Kuroita Toshihiro, Kuwayama Hisashi, Maruyama Yukio, Matsuo Kiyoshi, Minami Kazuyoshi, Mitsubori Mariko, Mori Masatoshi, Morishita Riyo, Murase Atsushi, Nishikawa Akira, Nishikawa Shigemichi, Okamoto Toshihiko, Sakagami Noriko, Sakamoto Yutaka, Sasaki Yukari, Seki Tomoe, Sono Saki, Sugiyama Akio, Sumiya Tsuyoshi, Takayama Tomoko, Takayama Yukiko, Takeda Hiroyuki, Togashi Takushi, Yahata Kazuhide, Yamada Hiroko, Yanagisawa Yuka, Endo Yaeta, Imamoto Fumio, Kisu Yasutomo, Tanaka Shigeo, Isogai Takao, Imai Jun-ichi, Watanabe Shinya, Nomura Nobuo", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "reference": [ { "type": "PubMed", "id": "19054851", "url": "https://glygen.org/publication/PubMed/19054851" } ] }, { "title": "Pyrin and ASC co-localize to cellular sites that are rich in polymerizing actin.", "journal": "Experimental biology and medicine (Maywood, N.J.)", "date": "2009-01", "authors": "Waite Andrea L, Schaner Philip, Hu Chunbo, Richards Neil, Balci-Peynircioglu Banu, Hong Arthur, Fox Michelle, Gumucio Deborah L", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "reference": [ { "type": "PubMed", "id": "19109554", "url": "https://glygen.org/publication/PubMed/19109554" } ] }, { "title": "Cutting edge: NF-kappaB activating pattern recognition and cytokine receptors license NLRP3 inflammasome activation by regulating NLRP3 expression.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2009", "authors": "Bauernfeind FG, Horvath G, Stutz A, Alnemri ES, MacDonald K, Speert D, Fernandes-Alnemri T, Wu J, Monks BG, Fitzgerald KA, Hornung V, Latz E", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "19570822", "url": "https://glygen.org/publication/PubMed/19570822" } ] }, { "title": "Pyrin Modulates the Intracellular Distribution of PSTPIP1.", "journal": "PloS one", "date": "2009", "authors": "Waite AL, Schaner P, Richards N, Balci-Peynircioglu B, Masters SL, Brydges SD, Fox M, Hong A, Yilmaz E, Kastner DL, Reinherz EL, Gumucio DL", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "reference": [ { "type": "PubMed", "id": "19584923", "url": "https://glygen.org/publication/PubMed/19584923" } ] }, { "title": "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.", "journal": "BMC Immunol.", "date": "2009", "authors": "Voss M, Lettau M, Janssen O", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "reference": [ { "type": "PubMed", "id": "19807924", "url": "https://glygen.org/publication/PubMed/19807924" } ] }, { "title": "Thioredoxin-interacting protein links oxidative stress to inflammasome activation.", "journal": "Nature immunology", "date": "2010", "authors": "Zhou R, Tardivel A, Thorens B, Choi I, Tschopp J", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "20023662", "url": "https://glygen.org/publication/PubMed/20023662" } ] }, { "title": "The inflammasomes.", "journal": "Cell", "date": "2010", "authors": "Schroder K, Tschopp J", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "20303873", "url": "https://glygen.org/publication/PubMed/20303873" } ] }, { "title": "ATP-induced pore formation in the plasma membrane of rat peritoneal mast cells.", "journal": "The Journal of general physiology", "date": "1990", "authors": "Tatham PE, Lindau M", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "2182768", "url": "https://glygen.org/publication/PubMed/2182768" } ] }, { "title": "Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).", "journal": "Arthritis and rheumatism", "date": "2012", "authors": "Demidowich AP, Freeman AF, Kuhns DB, Aksentijevich I, Gallin JI, Turner ML, Kastner DL, Holland SM", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "reference": [ { "type": "PubMed", "id": "22161697", "url": "https://glygen.org/publication/PubMed/22161697" } ] }, { "title": "Cutting edge: the NLRP3 inflammasome links complement-mediated inflammation and IL-1beta release.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2013", "authors": "Laudisi F, Spreafico R, Evrard M, Hughes TR, Mandriani B, Kandasamy M, Morgan BP, Sivasankar B, Mortellaro A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660826" } ], "reference": [ { "type": "PubMed", "id": "23817414", "url": "https://glygen.org/publication/PubMed/23817414" } ] }, { "title": "C3a modulates IL-1beta secretion in human monocytes by regulating ATP efflux and subsequent NLRP3 inflammasome activation.", "journal": "Blood", "date": "2013", "authors": "Asgari E, Le Friec G, Yamamoto H, Perucha E, Sacks SS, Kohl J, Cook HT, Kemper C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660826" } ], "reference": [ { "type": "PubMed", "id": "23878142", "url": "https://glygen.org/publication/PubMed/23878142" } ] }, { "title": "IL-1beta production is dependent on the activation of purinergic receptors and NLRP3 pathway in human macrophages.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2015", "authors": "Gicquel T, Robert S, Loyer P, Victoni T, Bodin A, Ribault C, Gleonnec F, Couillin I, Boichot E, Lagente V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660826" } ], "reference": [ { "type": "PubMed", "id": "26116704", "url": "https://glygen.org/publication/PubMed/26116704" } ] }, { "title": "Molecular mechanisms regulating NLRP3 inflammasome activation.", "journal": "Cellular & molecular immunology", "date": "2016", "authors": "Jo EK, Kim JK, Shin DM, Sasakawa C", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "26549800", "url": "https://glygen.org/publication/PubMed/26549800" } ] }, { "title": "Hsp90 inhibition as a means to inhibit activation of the NLRP3 inflammasome.", "journal": "Scientific reports", "date": "2018", "authors": "Piippo N, Korhonen E, Hytti M, Skottman H, Kinnunen K, Josifovska N, Petrovski G, Kaarniranta K, Kauppinen A", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "29712950", "url": "https://glygen.org/publication/PubMed/29712950" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43586", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43586" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Strong inflammatory signatures in the neutrophils of PAMI syndrome.", "journal": "Frontiers in immunology", "date": "2022", "authors": "Zheng Wenjie, Fan Xiaorui, Yang Zhaohui, Shangguan Yaoyao, Jin Taijie, Liu Yan, Huang Jiqian, Ye Xiaohua, Zhou Qing, Li Xiaozhong", "evidence": [ { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" } ], "reference": [ { "type": "PubMed", "id": "36203570", "url": "https://glygen.org/publication/PubMed/36203570" } ] }, { "title": "Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.", "journal": "Rheumatology (Oxford, England)", "date": "2023-09-01", "authors": "\u00d6zk\u0131l\u0131n\u00e7 \u00d6nen Merve, Onat Umut I, U\u011furlu Serdal, Timu\u00e7in Ahmet C, \u00d6z Arslan Devrim, Everest Elif, \u00d6zdo\u011fan Huri, Tahir Turanl\u0131 Eda", "evidence": [ { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" } ], "reference": [ { "type": "PubMed", "id": "36692132", "url": "https://glygen.org/publication/PubMed/36692132" } ] }, { "title": "Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.", "journal": "HGG advances", "date": "2023-04-13", "authors": "Morales-Heil David J, Cao Li, Sweeney Cheryl, Malara Anna, Brown Frank, Milam Philip, Anadkat Milan, Kaffenberger Jessica, Kaffenberger Benjamin, Nagele Peter, Kirby Brian, Roberson Elisha D O", "evidence": [ { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" } ], "reference": [ { "type": "PubMed", "id": "37013170", "url": "https://glygen.org/publication/PubMed/37013170" } ] }, { "title": "PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.", "journal": "Genes", "date": "2023-08-19", "authors": "Mejbri Manel, Renella Raffaele, Candotti Fabio, Jaques Cecile, Holzinger Dirk, Hofer Michael, Theodoropoulou Katerina", "evidence": [ { "database": "RefSeq", "id": "NP_001308064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308064" } ], "reference": [ { "type": "PubMed", "id": "37628706", "url": "https://glygen.org/publication/PubMed/37628706" } ] }, { "title": "ATP induces nucleotide permeability in rat mast cells.", "journal": "Nature", "date": "1979", "authors": "Cockcroft S, Gomperts BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": 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"https://glygen.org/publication/PubMed/9857189" } ] } ], "pathway": [ { "id": "hsa:9051", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9051", "resource": "KEGG Pathway" }, { "id": "R-HSA-844456", "name": "The NLRP3 inflammasome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456", "resource": "Reactome", "description": "The NLRP3 inflammasome" }, { "id": "R-HSA-9660826", "name": "Purinergic signaling in leishmaniasis infection", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660826", "resource": "Reactome", "description": "Purinergic signaling in leishmaniasis infection" } ], "orthologs": [ { "uniprot_canonical_ac": "B0BNK4-1", "protein_name": "Pstpip1 protein", "gene_name": "Pstpip1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"https://www.uniprot.org/uniprot/O43586" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "O43586", "url": "https://www.uniprot.org/uniprot/O43586" } ], "pmid": "" }, { "name": 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