{ "uniprot_canonical_ac": "O60331-1", "uniprot_ac": "O60331", "uniprot_id": "PI51C_HUMAN", "mass": { "chemical_mass": 73260.0, "monoisotopic_mass": 73260.0 }, "refseq": { "ac": "NP_001182662", "name": "phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 1", "summary": "This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662" }, "gene_names": [ { "name": "PIP5K1C", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60331", "id": "O60331" }, { "name": "KIAA0589", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60331", "id": "O60331" }, { "name": "LCCS3; PIP5K-GAMMA; PIP5K1-gamma; PIP5Kgamma", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662", "id": "NP_001182662" }, { "name": "PIP5K1C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662", "id": "NP_001182662" } ], "protein_names": [ { "name": "Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60331" }, { "name": "2.7.1.68", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60331" }, { "name": "PIP5K1gamma", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60331" }, { "name": "PtdIns(4)P-5-kinase 1 gamma", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60331" }, { "name": "Type I phosphatidylinositol 4-phosphate 5-kinase gamma", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60331" }, { "name": "diphosphoinositide kinase; type I PIP kinase; ptdIns(4)P-5-kinase 1 gamma; PIP5K1gamma; phosphatidylinositol-4-phosphate 5-kinase, type I, gamma; type I phosphatidylinositol 4-phosphate 5-kinase gamma", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662", "id": "NP_001182662" }, { "name": "phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662", "id": "NP_001182662" } ], "function": [ { "annotation": "A single homozygous substitution of aspartic acid with asparagine at amino acid 253 in PIP5K1C causes lethal contractural syndrome type 3>", "evidence": [ { "database": "RefSeq", "id": "NP_001182662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662" }, { "database": "PubMed", "id": "17701898", "url": "https://glygen.org/publication/PubMed/17701898" } ] }, { "annotation": "CLIC1 recruits PIP5K1A/C to induce cell-matrix adhesions for tumor metastasis.", "evidence": [ { "database": "RefSeq", "id": "NP_001182662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662" }, { "database": "PubMed", "id": "33079727", "url": "https://glygen.org/publication/PubMed/33079727" } ] }, { "annotation": "Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns(4)P/PI4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2/PIP2), a lipid second messenger that regulates several cellular processes such as signal transduction, vesicle trafficking, actin cytoskeleton dynamics, cell adhesion, and cell motility (PubMed:12422219, PubMed:22942276). PtdIns(4,5)P2 can directly act as a second messenger or can be utilized as a precursor to generate other second messengers: inositol 1,4,5-trisphosphate (IP3), diacylglycerol (DAG) or phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3/PIP3) (Probable). PIP5K1A-mediated phosphorylation of PtdIns(4)P is the predominant pathway for PtdIns(4,5)P2 synthesis (By similarity). Together with PIP5K1A, is required for phagocytosis, both enzymes regulating different types of actin remodeling at sequential steps (By similarity). Promotes particle attachment by generating the pool of PtdIns(4,5)P2 that induces controlled actin depolymerization to facilitate Fc-gamma-R clustering. Mediates RAC1-dependent reorganization of actin filaments. Required for synaptic vesicle transport (By similarity). Controls the plasma membrane pool of PtdIns(4,5)P2 implicated in synaptic vesicle endocytosis and exocytosis (PubMed:12847086). Plays a role in endocytosis mediated by clathrin and AP-2 (adaptor protein complex 2) (PubMed:12847086). Required for clathrin-coated pits assembly at the synapse (PubMed:17261850). Participates in cell junction assembly (PubMed:17261850). Modulates adherens junctions formation by facilitating CDH1/cadherin trafficking (PubMed:17261850). Required for focal adhesion dynamics. Modulates the targeting of talins (TLN1 and TLN2) to the plasma membrane and their efficient assembly into focal adhesions (PubMed:12422219). Regulates the interaction between talins (TLN1 and TLN2) and beta-integrins (PubMed:12422219). Required for uropodium formation and retraction of the cell rear during directed migration (By similarity). Has a role in growth factor-stimulated directional cell migration and adhesion (By similarity). Required for talin assembly into nascent adhesions forming at the leading edge toward the direction of the growth factor (PubMed:17635937). Negative regulator of T-cell activation and adhesion (By similarity). Negatively regulates integrin alpha-L/beta-2 (LFA-1) polarization and adhesion induced by T-cell receptor (By similarity). Together with PIP5K1A has a role during embryogenesis and together with PIP5K1B may have a role immediately after birth (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331#function" }, { "database": "PubMed", "id": "17261850", "url": "https://glygen.org/publication/PubMed/17261850" }, { "database": "PubMed", "id": "12422219", "url": "https://glygen.org/publication/PubMed/12422219" }, { "database": "UniProtKB", "id": "O70161", "url": "https://www.uniprot.org/uniprot/O70161#function" }, { "database": "PubMed", "id": "17635937", "url": "https://glygen.org/publication/PubMed/17635937" }, { "database": "PubMed", "id": "12847086", "url": "https://glygen.org/publication/PubMed/12847086" }, { "database": "PubMed", "id": "19889969", "url": "https://glygen.org/publication/PubMed/19889969" }, { "database": "UniProtKB", "id": "P70182", "url": "https://www.uniprot.org/uniprot/P70182#function" }, { "database": "PubMed", "id": "22942276", "url": "https://glygen.org/publication/PubMed/22942276" } ] }, { "annotation": "Data have identified two novel C-terminal splice variants of PIPKIgamma that are expressed in multiple tissue types, display PIPK activity in vitro abd have distinct subcellular targeting. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001182662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662" }, { "database": "PubMed", "id": "19548880", "url": "https://glygen.org/publication/PubMed/19548880" } ] }, { "annotation": "Our observations revealed that high PIPKIgamma expression in tumor cells could induce AKT-mTOR signaling activation. Increased activation of AKT-mTOR increases the phosphorylation levels of STAT3, leading to CCL2 expression and suppressing cancer immune reaction activation. Erratum:[J Immunol Res. 2020 Sep 30;2020:1786505. PMID: 33062718] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001182662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662" }, { "database": "PubMed", "id": "31781676", "url": "https://glygen.org/publication/PubMed/31781676" } ] }, { "annotation": "This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001182662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662" } ] }, { "annotation": "This publication discusses cloning of mouse phosphatidylinositol-4-phosphate 5-kinase type-1 gamma.", "evidence": [ { "database": "RefSeq", "id": "NP_001182662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662" }, { "database": "PubMed", "id": "9535851", "url": "https://glygen.org/publication/PubMed/9535851" } ] }, { "annotation": "Type I Phosphatidylinositol-4-Phosphate 5-Kinases alpha and gamma Play a Key Role in Targeting HIV-1 Pr55(Gag) to the Plasma Membrane. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001182662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662" }, { "database": "PubMed", "id": "32376619", "url": "https://glygen.org/publication/PubMed/32376619" } ] }, { "annotation": "We show that the predominant brain splice variant of PtdInsPKI gamma (PtdInsPKI gamma-90) binds, by means of a short carboxy-terminal peptide, to the FERM domain of talin, and is strongly activated by this interaction", "evidence": [ { "database": "RefSeq", "id": "NP_001182662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662" }, { "database": "PubMed", "id": "12422219", "url": "https://glygen.org/publication/PubMed/12422219" } ] } ], "disease": [ { "disease_id": "DOID:0060653", "recommended_name": { "id": "DOID:0060653", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060653", "name": "lethal congenital contracture syndrome 3", "description": "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0060653", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060653", "name": "Israeli Bedouin type B multiple contracture syndrome", "description": "" }, { "id": "MONDO:0012656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012656", "name": "lethal congenital contracture syndrome 3", "description": "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." }, { "id": "MONDO:0012656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012656", "name": "Israeli Bedouin type B multiple contracture syndrome", "description": "" }, { "id": "MONDO:0012656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012656", "name": "LCCS3", "description": "" }, { "id": "MONDO:0012656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012656", "name": "PIP5K1C lethal congenital contracture syndrome", "description": "" }, { "id": "MONDO:0012656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012656", "name": "lethal congenital contractural syndrome 3", "description": "" }, { "id": "MONDO:0012656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012656", "name": "lethal congenital contracture syndrome 3", "description": "" }, { "id": "MONDO:0012656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012656", "name": "lethal congenital contracture syndrome caused by mutation in PIP5K1C", "description": "" }, { "id": "MONDO:0012656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012656", "name": "lethal congenital contracture syndrome type 3", "description": "" }, { "id": "MONDO:0012656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012656", "name": "multiple contracture syndrome, Israeli Bedouin type B", "description": "" }, { "id": "MIM:611369", "resource": "MIM", "url": "https://www.omim.org/entry/611369", "name": "Lethal congenital contracture syndrome 3", "description": "Lethal congenital contracture syndrome 3" } ], "evidence": [ { "id": "611369", "database": "MIM", "url": "https://www.omim.org/entry/611369" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 650, "end_pos": 650, "sequence_org": "S", "sequence_mut": "D", "comment": "Abolishes binding to TLN2. Affects localization to focal adhesions.", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" }, { "database": "PubMed", "id": "15738269", "url": "https://glygen.org/publication/PubMed/15738269" } ] }, { "start_pos": 650, "end_pos": 650, "sequence_org": "S", "sequence_mut": "N", "comment": "Does not affect binding to TLN2 and localization to focal adhesions.", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" }, { "database": "PubMed", "id": "15738269", "url": "https://glygen.org/publication/PubMed/15738269" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "83.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "75.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60331", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60331" } ], "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, 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60331", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60331" } ], "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", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60331", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60331" } ], "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": "O60331", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60331" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60331", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60331" } ], "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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "common_name": "Human" } ], "gene": [ { "name": "PIP5K1C", "url": "https://www.uniprot.org/uniprot/O60331", "locus": { "chromosome": "19", "start_pos": 3630183, "end_pos": 3700468, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000186111", "url": "https://www.ensembl.org/id/ENSG00000186111" } ] } } ], "crossref": [ { "id": "ENSG00000186111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186111", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "2.7.1.68", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.7.1.68&UniProtAcc=O60331", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd17308", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17308", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1908383", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1908383", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "PIP5K1C", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1C", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "23396", "url": "https://www.ncbi.nlm.nih.gov/gene/23396", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "8996", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8996", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60331", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60331*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002498", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002498", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023610", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023610", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027484", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027484", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23396", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23396", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "606102", "url": "http://www.omim.org/entry/606102", "database": "MIM", "categories": [ "Other" ] }, { "id": "611369", "url": "http://www.omim.org/entry/611369", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60331", "url": "https://www.nextprot.org/entry/NX_O60331", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O60331", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60331", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "YKFMSNT", "url": "https://omabrowser.org/oma/group/YKFMSNT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5481504at2759", "url": "http://www.orthodb.org/?query=5481504at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23086", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23086", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23086:SF26", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23086:SF26", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2G35", "url": "https://www.rcsb.org/structure/2G35", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3H1Z", "url": "https://www.rcsb.org/structure/3H1Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3H85", "url": "https://www.rcsb.org/structure/3H85", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01504", "url": "http://pfam.xfam.org/family/PF01504", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60331", "url": "https://pharos.nih.gov/targets/O60331", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60331", "url": "http://purl.obolibrary.org/obo/PR_O60331", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-399955", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-399955", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6811558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811558", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001182662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182662", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "14425", "url": "https://www.rhea-db.org/rhea/14425", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "40363", "url": "https://www.rhea-db.org/rhea/40363", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "40367", "url": "https://www.rhea-db.org/rhea/40367", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "40375", "url": "https://www.rhea-db.org/rhea/40375", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "40379", "url": "https://www.rhea-db.org/rhea/40379", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "40383", "url": "https://www.rhea-db.org/rhea/40383", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "40387", "url": "https://www.rhea-db.org/rhea/40387", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A7P0T808", "url": "https://www.uniprot.org/uniprot/A0A7P0T808", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T808-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T808-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAE7", "url": "https://www.uniprot.org/uniprot/A0A7P0TAE7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAE7-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TAE7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60331-1", "url": "https://www.uniprot.org/uniprot/O60331-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60331-2", "url": "https://www.uniprot.org/uniprot/O60331-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60331-3", "url": "https://www.uniprot.org/uniprot/O60331-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60331-4", "url": "https://www.uniprot.org/uniprot/O60331-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGHRGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGSNLTPAHHFQDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCNEPLIELSNPGASGSLFYVTSDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQSGGKNIRVVVMNNILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVKTLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMESIQGGAARGEAIESDDTMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDGDTVSVHRPSFYAERFFKFMSNTVFRKNSSLKSSPSKKGRGGALLAVKPLGPTAAFSASQIPSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIATTLSSTSLSIPERSPSETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEASPAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYFPTDERSWVYSPLHYSAQAPPASDGESDT", "length": 668, "header": "sp|O60331-1|PI51C_HUMAN Isoform 1 of Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma OS=Homo sapiens OX=9606 GN=PIP5K1C PE=1 SV=2 CANONICAL=O60331-1" }, "isoforms": [ { "isoform_ac": "A0A7P0T808-1", "url": "", "sequence": { "sequence": "MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGHRGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGSNLTPAHHFQDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCNEPLIELSNPGASGSLFYVTSDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQSGGKNIRVVVMNNILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVKTLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMESIQGGAARGEAIESDDTMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDGDTVSVHRPSFYAERFFKFMSNTVFRKNSSLKSSPSKKGRGGALLAVKPLGPTAAFSASQIPSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIATTLSSTSLSIPERSPSETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEASPAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYFFTDGRYWIYSPRHRRLRAVTLSASGTPTDERSWVYSPLHYSAQAPPASDGESDT", "length": 694, "header": "tr|A0A7P0T808-1|A0A7P0T808_HUMAN Computationally mapped isoform of Phosphatidylinositol-4-phosphate 5-kinase type 1 gamma OS=Homo sapiens OX=9606 GN=PIP5K1C PE=1 SV=1 CANONICAL=O60331-1" }, "locus": { "chromosome": "19", "start_pos": 3700390, "end_pos": 3633437, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679885.1", "url": "https://www.ensembl.org/id/ENST00000679885.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504894.1", "url": "https://www.ensembl.org/id/ENSP00000504894.1" } ] } }, { "isoform_ac": "A0A7P0TAE7-1", "url": "", "sequence": { "sequence": "MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGHRGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSSVTSGPRWLPKLLPSRLHSSHRRQQKENNSPSLSDMTSVSAPLVSLAECSHRRQQPHPRPPLPGLPLQDLCTCRLPLLPGALWDPAR", "length": 204, "header": "tr|A0A7P0TAE7-1|A0A7P0TAE7_HUMAN Computationally mapped isoform of Phosphatidylinositol-4-phosphate 5-kinase type 1 gamma OS=Homo sapiens OX=9606 GN=PIP5K1C PE=1 SV=1 CANONICAL=O60331-1" }, "locus": { "chromosome": "19", "start_pos": 3700390, "end_pos": 3660976, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679828.1", "url": "https://www.ensembl.org/id/ENST00000679828.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506175.1", "url": "https://www.ensembl.org/id/ENSP00000506175.1" } ] } }, { "isoform_ac": "O60331-1", "url": "", "sequence": { "sequence": "MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGHRGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGSNLTPAHHFQDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCNEPLIELSNPGASGSLFYVTSDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQSGGKNIRVVVMNNILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVKTLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMESIQGGAARGEAIESDDTMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDGDTVSVHRPSFYAERFFKFMSNTVFRKNSSLKSSPSKKGRGGALLAVKPLGPTAAFSASQIPSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIATTLSSTSLSIPERSPSETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEASPAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYFPTDERSWVYSPLHYSAQAPPASDGESDT", "length": 668, "header": "sp|O60331-1|PI51C_HUMAN Isoform 1 of Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma OS=Homo sapiens OX=9606 GN=PIP5K1C PE=1 SV=2 CANONICAL=O60331-1" }, "locus": { "chromosome": "19", "start_pos": 3700390, "end_pos": 3633437, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000335312.8", "url": "https://www.ensembl.org/id/ENST00000335312.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000335333.3", "url": "https://www.ensembl.org/id/ENSP00000335333.3" } ] } }, { "isoform_ac": "O60331-2", "url": "", "sequence": { "sequence": "MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGHRGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGSNLTPAHHFQDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCNEPLIELSNPGASGSLFYVTSDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQSGGKNIRVVVMNNILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVKTLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMESIQGGAARGEAIESDDTMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDGDTVSVHRPSFYAERFFKFMSNTVFRKNSSLKSSPSKKGRGGALLAVKPLGPTAAFSASQIPSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIATTLSSTSLSIPERSPSETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEASPAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYFWRLWGPHAPTWPWRREGRAACLCPYPPHVVTPFPGTGLCASWSPDGTGGLGAMSCCVSVS", "length": 700, "header": "sp|O60331-2|PI51C_HUMAN Isoform 2 of Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma OS=Homo sapiens OX=9606 GN=PIP5K1C PE=1 SV=2 CANONICAL=O60331-1" }, "locus": { "chromosome": "19", "start_pos": 3700390, "end_pos": 3637827, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537021.1", "url": "https://www.ensembl.org/id/ENST00000537021.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000444779.1", "url": "https://www.ensembl.org/id/ENSP00000444779.1" } ] } }, { "isoform_ac": "O60331-3", "url": "", "sequence": { "sequence": "MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGHRGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGSNLTPAHHFQDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCNEPLIELSNPGASGSLFYVTSDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQSGGKNIRVVVMNNILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVKTLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMESIQGGAARGEAIESDDTMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDGDTVSVHRPSFYAERFFKFMSNTVFRKNSSLKSSPSKKGRGGALLAVKPLGPTAAFSASQIPSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIATTLSSTSLSIPERSPSETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEASPAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYFFTDGRYWIYSPRHRRLRAVTLSASGTVSDRSRPPWGEGAVPLGQQGAAGPRPEAQCLTSVVFQKGFG", "length": 707, "header": "sp|O60331-3|PI51C_HUMAN Isoform 3 of Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma OS=Homo sapiens OX=9606 GN=PIP5K1C PE=1 SV=2 CANONICAL=O60331-1" }, "locus": { "chromosome": "19", "start_pos": 3700390, "end_pos": 3637413, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589578.5", "url": "https://www.ensembl.org/id/ENST00000589578.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466363.1", "url": "https://www.ensembl.org/id/ENSP00000466363.1" } ] } }, { "isoform_ac": "O60331-4", "url": "", "sequence": { "sequence": "MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGHRGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGSNLTPAHHFQDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCNEPLIELSNPGASGSLFYVTSDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQSGGKNIRVVVMNNILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVKTLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMESIQGGAARGEAIESDDTMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDGDTVSVHRPSFYAERFFKFMSNTVFRKNSSLKSSPSKKGRGGALLAVKPLGPTAAFSASQIPSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIATTLSSTSLSIPERSPSETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEASPAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYF", "length": 640, "header": "sp|O60331-4|PI51C_HUMAN Isoform 4 of Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma OS=Homo sapiens OX=9606 GN=PIP5K1C PE=1 SV=2 CANONICAL=O60331-1" }, "locus": { "chromosome": "19", "start_pos": 3700390, "end_pos": 3638884, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539785.5", "url": "https://www.ensembl.org/id/ENST00000539785.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000445992.1", "url": "https://www.ensembl.org/id/ENSP00000445992.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60331", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60331" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "phosphorylation": [ { "start_pos": 448, "end_pos": 448, 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"kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60331", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60331" }, { "database": "PubMed", "id": "15738269", "url": "https://glygen.org/publication/PubMed/15738269" } ], "site_lbl": "Tyr649" }, { "start_pos": 649, "end_pos": 649, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" }, { "database": "iPTMnet", "id": "O60331", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60331" }, { "database": "PubMed", "id": "15738269", "url": "https://glygen.org/publication/PubMed/15738269" } ], "site_lbl": "Tyr649" }, { "start_pos": 650, "end_pos": 650, "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": 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of human synaptojanin encode polyphosphoinositide phosphatases.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Guo S, Stolz LE, Lemrow SM, York JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10224048", "url": "https://glygen.org/publication/PubMed/10224048" } ] }, { "title": "Essential role of phosphoinositide metabolism in synaptic vesicle recycling.", "journal": "Cell", "date": "1999", "authors": "Cremona O, Di Paolo G, Wenk MR, Luthi A, Kim WT, Takei K, Daniell L, Nemoto Y, Shears SB, Flavell RA, McCormick DA, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10535736", "url": "https://glygen.org/publication/PubMed/10535736" } ] }, { "title": "The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Cestra G, Castagnoli L, Dente L, Minenkova O, Petrelli A, Migone N, Hoffmuller U, Schneider-Mergener J, Cesareni G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10542231", "url": "https://glygen.org/publication/PubMed/10542231" } ] }, { "title": "Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.", "journal": "Cell", "date": "1999", "authors": "Lee JO, Yang H, Georgescu MM, Di Cristofano A, Maehama T, Shi Y, Dixon JE, Pandolfi P, Pavletich NP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" 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A possible role of ETK in regulation of vesicle trafficking.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Yang J, Kim O, Wu J, Qiu Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11877430", "url": "https://glygen.org/publication/PubMed/11877430" } ] }, { "title": "Phosphorylation of the AP2 mu subunit by AAK1 mediates high affinity binding to membrane protein sorting signals.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Ricotta D, Conner SD, Schmid SL, von Figura K, Honing S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11877457", "url": "https://glygen.org/publication/PubMed/11877457" } ] }, { "title": "Identification of an adaptor-associated kinase, AAK1, as a regulator of clathrin-mediated endocytosis.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Conner SD, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11877461", "url": "https://glygen.org/publication/PubMed/11877461" } ] }, { "title": "HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. 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"https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "adherens junction assembly", "id": "GO:0034333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034333", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "phosphatidylinositol metabolic process", "id": "GO:0046488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046488", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "uropod", "id": "GO:0001931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001931", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "1-phosphatidylinositol-4-phosphate 5-kinase activity", "id": "GO:0016308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016308", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" }, { "name": "phosphatidylinositol kinase activity", "id": "GO:0052742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052742", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 121, "end_pos": 123, "annotation": "n_glycosylation_sequon" }, { "start_pos": 447, "end_pos": 449, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylation at Lys-265 and Lys-268 seems to decrease lipid 1-phosphatidylinositol-4-phosphate 5-kinase activity. Deacetylation of these sites by SIRT1 positively regulates the exocytosis of TSH-containing granules from pituitary cells.", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" }, { "database": "PubMed", "id": "20668706", "url": "https://glygen.org/publication/PubMed/20668706" } ] }, { "annotation": "Phosphorylation on Ser-650 negatively regulates binding to TLN2 and is strongly stimulated in mitosis. Phosphorylation on Tyr-649 is necessary for targeting to focal adhesions. Phosphorylation on Ser-650 and Tyr-649 are mutually exclusive. Phosphorylated by SYK and CSK (By similarity). Tyrosine phosphorylation is enhanced by PTK2 signaling. Phosphorylated at Tyr-639 upon EGF stimulation. Some studies suggest that phosphorylation on Tyr-649 enhances binding to tailins (TLN1 and TLN2). According to PubMed:15738269 phosphorylation at Tyr-649 does not directly enhance binding to tailins (TLN1 and TLN2) but may act indirectly by inhibiting phosphorylation at Ser-650.", "evidence": [ { "database": "UniProtKB", "id": "O60331", "url": "https://www.uniprot.org/uniprot/O60331" }, { "database": "PubMed", "id": "15738269", "url": "https://glygen.org/publication/PubMed/15738269" } ] } ], "interactions": [], "reactions": [ { "id": "14425", "name": "", "equation": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ADP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5I6B8-1", "Q5CZZ9-1", "D3ZSI8-1", "Q5T9C9-1", "Q99755-1", "O14986-1", "O60331-1", "P70181-1", "P70182-1", "O70161-1", "P38994-1", "Q9W2R3-1" ], "evidence": [ { "id": "14425", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/14425" } ] }, { "id": "40363", "name": "", "equation": "1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phospho-1D-myo-inositol 4-phosphate + ATP = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phospho-1D-myo-inositol 4,5-bisphosphate + ADP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5I6B8-1", "Q5CZZ9-1", "D3ZSI8-1", "O60331-1", "Q99755-1", "O14986-1", "P70181-1", "O70161-1", "P70182-1" ], "evidence": [ { "id": "40363", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40363" } ] }, { "id": "40367", "name": "", "equation": "1-octadecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phospho-1D-myo-inositol 4-phosphate + ATP = 1-octadecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phospho-1D-myo-inositol 4,5-bisphosphate + ADP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5I6B8-1", "Q5CZZ9-1", "D3ZSI8-1", "O60331-1", "Q99755-1", "O14986-1", "P70181-1", "O70161-1", "P70182-1" ], "evidence": [ { "id": "40367", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40367" } ] }, { "id": "40375", "name": "", "equation": "1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + ATP = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phospho-1D-myo-inositol 5-phosphate + ADP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5I6B8-1", "Q5CZZ9-1", "D3ZSI8-1", "O60331-1", "Q99755-1", "O14986-1", "P70181-1", "O70161-1", "P70182-1" ], "evidence": [ { "id": "40375", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40375" } ] }, { "id": "40379", "name": "", "equation": "1-octadecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phospho-1D-myo-inositol + ATP = 1-octadecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phospho-1D-myo-inositol 5-phosphate + ADP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5I6B8-1", "Q5CZZ9-1", "D3ZSI8-1", "O60331-1", "Q99755-1", "O14986-1", "P70181-1", "O70161-1", "P70182-1" ], "evidence": [ { "id": "40379", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40379" } ] }, { "id": "40383", "name": "", "equation": "1-octadecanoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phospho-1D-myo-inositol + ATP = 1-octadecanoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phospho-1D-myo-inositol 5-phosphate + ADP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5I6B8-1", "Q5CZZ9-1", "D3ZSI8-1", "O60331-1", "Q99755-1", "O14986-1", "P70181-1", "O70161-1", "P70182-1" ], "evidence": [ { "id": "40383", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40383" } ] }, { "id": "40387", "name": "", "equation": "1,2-di-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phospho-1D-myo-inositol + ATP = 1,2-di(9Z,12Z)-octadecadienoyl-sn-glycero-3-phospho-1D-myo-inositol 5-phosphate + ADP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5I6B8-1", "Q5CZZ9-1", "D3ZSI8-1", "O60331-1", "Q99755-1", "O14986-1", "P70181-1", "O70161-1", "P70182-1" ], "evidence": [ { "id": "40387", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40387" } ] }, { "id": "R-HSA-1675773", "name": "PI(3,4)P2 is phosphorylated to PI(3,4,5)P3 by PIP5K1A-C at the plasma membrane", "equation": "", "summary": "At the plasma membrane, phosphatidylinositol-4-phosphate 5-kinase type-1 alpha (PIP5K1A), beta (PIP5K1B), and gamma (PIP5K1C) phosphorylate phosphatidylinositol 3,4-bisphosphate (PI(3,4)P2) to produce phosphatidylinositol 3,4,5-trisphosphate (PI(3,4,5)P3). This is a minor reaction, however, and its physiological role is uncertain.

The following lists the above proteins with their corresponding literature references: PIP5K1A (Zhang et al. 1997, Tolias et al. 1998), PIP5K1B (Zhang et al. 1997, Tolias et al. 1998), and PIP5K1C (Wenk et al. 2001, Di Paolo et al. 2002, Krauss et al. 2003).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q99755-1", "O60331-1", "O14986-1" ], "evidence": [ { "id": "R-HSA-1675773", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1675773" } ] }, { "id": "R-HSA-1676082", "name": "PI4P is phosphorylated to PI(4,5)P2 by PIP5K1A-C at the plasma membrane", "equation": "", "summary": "At the plasma membrane, phosphatidylinositol-4-phosphate 5-kinase type-1 alpha (PIP5K1A), beta (PIP5K1B), and gamma (PIP5K1C) phosphorylate phosphatidylinositol 4-phosphate (PI4P) to produce phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2).

The following lists the above proteins with their corresponding literature references: PIP5K1A (Halstead et al. 2006, Zhang et al. 1997), PIP5K1B (Zhang et al. 1997), and PIP5K1C (Di Paolo et al. 2002).

This reaction is of particular interest because its regulation by small GTPases of the RHO and ARF families, not yet annotated here, ties the process of phosphatidylinositol phosphate biosynthesis to regulation of the actin cytoskeleton and vesicular trafficking, and hence to diverse aspects of cell motility and signalling (Oude Weernink et al. 2004, 2007).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q99755-1", "O60331-1", "O14986-1" ], "evidence": [ { "id": "R-HSA-1676082", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1676082" } ] }, { "id": "R-HSA-1676145", "name": "PI3P is phosphorylated to PI(3,4)P2 by PIP4K2/5K1 at the plasma membrane", "equation": "", "summary": "At the plasma membrane, phosphatidylinositol-5-phosphate 4-kinase type-2 alpha (PIP4K2A) and beta (PIP4K2B) homodimers and heterodimers (Clarke et al. 2010), along with phosphatidylinositol-4-phosphate 5-kinase type-1 alpha (PIP5K1A), beta (PIP5K1B), and gamma (PIP5K1C) phosphorylate phosphatidylinositol 3-phosphate (PI3P) to phosphatidylinositol 3,4-bisphosphate (PI(3,4)P2).

The following lists the above proteins with their corresponding literature references: PIP4K2A (Zhang et al. 1997, Rameh et al. 1997, Clarke et al. 2008), PIP4K2B (Zhang et al. 1997, Rameh et al. 1997), PIP5K1A (Zhang et al. 1997, Tolias et al. 1998), PIP5K1B (Zhang et al. 1997, Tolias et al. 1998), and PIP5K1C (Wenk et al. 2001, Di Paolo et al. 2002).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-202247" ], "enzyme_list": [ "P78356-1", "P48426-1", "Q99755-1", "O60331-1", "O14986-1" ], "evidence": [ { "id": "R-HSA-1676145", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1676145" } ] }, { "id": "R-HSA-399936", "name": "Inhibition of integrin activation by sequestering PIP5KIgamma", "equation": "", "summary": "Sema3A also mediates integrin inhibition by a mechanism involving PIPKI gamma 661, a phosphatidylinositol kinase that participates in integrin mediated focal adhesion assembly. The binding of talin to beta-integrin is required for integrin activation and is strengthened by PtdIns(4,5)P(2). PIPKI gamma 661, an enzyme that makes PtdIns(4,5)P(2), is targeted to focal adhesions by an association with talin. Sema3A induced dissociation of FARP2 from Plexin-A1 stimulates an interaction between FARP2 and PIPKI gamma 661. FARP2 inhibits PIPK gamma 661's kinase activity, and thus inhibits integrin mediated adhesion.", "cellular_location": "cytosol", "input_participant_list": [ "R-HSA-396935" ], "output_participant_list": [], "enzyme_list": [ "O60331-1" ], "evidence": [ { "id": "R-HSA-399936", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-399936" } ] }, { "id": "R-HSA-8868066", "name": "PIP5K1C phosphorylates PI(4)P to PI(4,5)P2", "equation": "", "summary": "Plasma membrane enrichment of PI(4,5)P2 is maintained in part through the action of PI 4 phosphatase 5 kinases (PIPKIs) such as PIP5K1C (Di Paolo and De Camilli, 2006). PIP5K1C interacts directly with AP-2 and the interaction activates the kinase, generating a positive feedback loop for the recruitment of AP-2 to the plasma membrane (Krauss et al, 2006; Bairstow et al, 2006; Thieman et al, 2009; reviewed in Daumke et al, 2014).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60331-1" ], "evidence": [ { "id": "R-HSA-8868066", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868066" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-202247", "participant_name": "PI(3,4)P2 [plasma membrane]", "crossref": [ { "id": "16152", "database": "ChEBI", "url": "" }, { "id": "16152", "database": "ChEBI", "url": "" }, { "id": "16152", "database": "ChEBI", "url": "" }, { "id": "16152", "database": "ChEBI", "url": "" }, { "id": "16152", "database": "ChEBI", "url": "" }, { "id": "16152", "database": "ChEBI", "url": "" }, { "id": "16152", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-HSA-396935", "participant_name": "FARP2 [cytosol]", "crossref": [ { "id": "O94887", "database": "UniProt", "url": "" }, { "id": "O94887", "database": "GeneCards", "url": "" }, { "id": "O94887", "database": "PRO", "url": "" }, { "id": "NP_055623.1", "database": "RefSeq", "url": "" }, { "id": "NP_001269913.1", "database": "RefSeq", "url": "" }, { "id": "25734", "database": "Orphanet", "url": "" }, { "id": "NP_001269912.1", "database": "RefSeq", "url": "" }, { "id": "O94887", "database": "Pharos - Targets", "url": "" }, { "id": "ENST00000373287", "database": "Ensembl", "url": "" }, { "id": "ENSP00000362384", "database": "Ensembl", "url": "" }, { "id": "HMDBP11476", "database": "HMDB Protein", "url": "" }, { "id": "ENSG00000006607", "database": "Ensembl", "url": "" }, { "id": "ENSP00000486597", "database": "Ensembl", "url": "" }, { "id": "ENSG00000006607-FARP2", "database": "HPA", "url": "" }, { "id": "ENST00000627550", "database": "Ensembl", "url": "" }, { "id": "ENSG00000006607", "database": "OpenTargets", "url": "" }, { "id": "ENSP00000264042", "database": "Ensembl", "url": "" }, { "id": "ENST00000264042", "database": "Ensembl", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D3ZSI8", "gene_name": "Pip5k1a", "activity": [ { "ec_number": "2.7.1.68", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ADP + H(+).", "evidence": [ { "id": "D3ZSI8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZSI8" } ] }, { "ec_number": "2.7.1.68", "activity": "", "evidence": [ { "id": "D3ZSI8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZSI8" } ] } ] }, { "uniprot_ac": "O14986", "gene_name": "PIP5K1B", "activity": [ { "ec_number": "2.7.1.68", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ADP + H(+).", "evidence": [ { "id": "O14986", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14986" } ] }, { "ec_number": "2.7.1.68", "activity": "", "evidence": [ { "id": "O14986", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14986" } ] } ] }, { "uniprot_ac": "O60331", "gene_name": "PIP5K1C", "activity": [ { "ec_number": "2.7.1.68", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ADP + H(+).", "evidence": [ { "id": "O60331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60331" } ] }, { "ec_number": "2.7.1.68", "activity": "", "evidence": [ { "id": "O60331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60331" } ] } ] }, { "uniprot_ac": "O70161", "gene_name": "Pip5k1c", "activity": [ { "ec_number": "2.7.1.68", "activity": "a 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