{ "uniprot_canonical_ac": "O15327-1", "uniprot_ac": "O15327", "uniprot_id": "INP4B_HUMAN", "mass": { "chemical_mass": 104738.0, "monoisotopic_mass": 104738.0 }, "refseq": { "ac": "NP_001095139", "name": "inositol polyphosphate 4-phosphatase type II isoform 1", "summary": "INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" }, "gene_names": [ { "name": "INPP4B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15327", "id": "O15327" }, { "name": "INPP4B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139", "id": "NP_001095139" } ], "protein_names": [ { "name": "Inositol polyphosphate 4-phosphatase type II", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15327" }, { "name": "3.1.3.66", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15327" }, { "name": "Type II inositol 3,4-bisphosphate 4-phosphatase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15327" }, { "name": "inositol polyphosphate 4-phosphatase II; 4-phosphatase II; type II inositol 3,4-bisphosphate 4-phosphatase; inositol polyphosphate-4-phosphatase, type II, 105kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139", "id": "NP_001095139" }, { "name": "inositol polyphosphate 4-phosphatase type II isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139", "id": "NP_001095139" } ], "function": [ { "annotation": "Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 3,4-trisphosphate (PubMed:24070612, PubMed:24591580). Plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3,4-bisphosphate in membrane ruffles (PubMed:24591580). The lipid phosphatase activity is critical for tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (PubMed:19647222, PubMed:24070612).", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327#function" }, { "database": "PubMed", "id": "24591580", "url": "https://glygen.org/publication/PubMed/24591580" }, { "database": "PubMed", "id": "19647222", "url": "https://glygen.org/publication/PubMed/19647222" }, { "database": "PubMed", "id": "24070612", "url": "https://glygen.org/publication/PubMed/24070612" } ] }, { "annotation": "Estrogen receptor beta regulates AKT activity through up-regulation of INPP4B and inhibits migration of prostate cancer cell line PC-3.", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" }, { "database": "PubMed", "id": "33020300", "url": "https://glygen.org/publication/PubMed/33020300" } ] }, { "annotation": "Expression and functional characterization of INPP4B in gallbladder cancer patients and gallbladder cancer cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" }, { "database": "PubMed", "id": "33879096", "url": "https://glygen.org/publication/PubMed/33879096" } ] }, { "annotation": "INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" } ] }, { "annotation": "INPP4B promotes PI3Kalpha-dependent late endosome formation and Wnt/beta-catenin signaling in breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" }, { "database": "PubMed", "id": "34035258", "url": "https://glygen.org/publication/PubMed/34035258" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" }, { "database": "PubMed", "id": "17846126", "url": "https://glygen.org/publication/PubMed/17846126" } ] }, { "annotation": "Regulation of B-1 cell numbers and B cell-mediated antibody production by Inpp4b.", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" }, { "database": "PubMed", "id": "37389566", "url": "https://glygen.org/publication/PubMed/37389566" } ] }, { "annotation": "The INPP4B paradox: Like PTEN, but different. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" }, { "database": "PubMed", "id": "34216856", "url": "https://glygen.org/publication/PubMed/34216856" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O15327", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15327" } ], "glycoeffect": [], "start_pos": 775, "end_pos": 775, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "142108144", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E775", "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 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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate 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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": 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"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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate 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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15327" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15327" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15327" } ], "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": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15327" } ], "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": 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"categories": [ "Protein" ] }, { "id": "E9PG59", "url": "https://www.uniprot.org/uniprot/E9PG59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PG59-1", "url": "https://www.uniprot.org/uniprot/E9PG59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PHC0", "url": "https://www.uniprot.org/uniprot/E9PHC0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PHC0-1", "url": "https://www.uniprot.org/uniprot/E9PHC0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9Q3", "url": "https://www.uniprot.org/uniprot/H0Y9Q3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9Q3-1", "url": "https://www.uniprot.org/uniprot/H0Y9Q3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YA10", "url": "https://www.uniprot.org/uniprot/H0YA10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YA10-1", "url": "https://www.uniprot.org/uniprot/H0YA10-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15327-1", "url": "https://www.uniprot.org/uniprot/O15327-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15327-2", "url": "https://www.uniprot.org/uniprot/O15327-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BS68", "url": "https://www.uniprot.org/uniprot/Q9BS68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BS68-1", "url": "https://www.uniprot.org/uniprot/Q9BS68-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEPQLEFILACKDLVAPVRDRKLNTLVQISVIHPVEQSLTRYSSTEIVEGTRDPLFLTGVTFPSEYPIYEETKIKLTVYDVKDKSHDTVRTSVLPEHKDPPPEVGRSFLGYASFKVGELLKSKEQLLVLSLRTSDGGKVVGTIEVSVVKMGEIEDGEADHITTDVQGQKCALVCECTAPESVSGKDNLPFLNSVLKNPVCKLYRFPTSDNKWMRIREQMSESILSFHIPKELISLHIKEDLCRNQEIKELGELSPHWDNLRKNVLTHCDQMVNMYQDILTELSKETGSSFKSSSSKGEKTLEFVPINLHLQRMQVHSPHLKDALYDVITVGAPAAHFQGFKNGGLRKLLHRFETERRNTGYQFIYYSPENTAKAKEVLSNINQLQPLIATHADLLLNSASQHSPDSLKNSLKMLSEKTELFVHAFKDQLVRSALLALYTARPGGILKKPPSPKSSTEESSPQDQPPVMRGQDSIPHHSDYDEEEWDRVWANVGKSLNCIIAMVDKLIERDGGSEGSGGNNDGEKEPSLTDAIPSHPREDWYEQLYPLILTLKDCMGEVVNRAKQSLTFVLLQELAYSLPQCLMLTLRRDIVFSQALAGLVCGFIIKLQTSLYDPGFLQQLHTVGLIVQYEGLLSTYSDEIGMLEDMAVGISDLKKVAFKIIEAKSNDVLPVITGRREHYVVEVKLPARMFESLPLQIKEGQLLHVYPVLFNVGINEQQTLAERFGDVSLQESINQENFELLQEYYKIFMEKMPPDYISHFQEQNDLKALLENLLQNIQSKKRKNVEIMWLAATICRKLNGIRFTCCKSAKDRTSMSVTLEQCSILRDEHQLHKDFFIRALDCMRREGCRIENVLKNIKCRKYAFNMLQLMAFPKYYRPPEGTYGKADT", "length": 924, "header": "sp|O15327-1|INP4B_HUMAN Isoform 1 of Inositol polyphosphate 4-phosphatase type II OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=4 CANONICAL=O15327-1" }, "isoforms": [ { "isoform_ac": "A0A0D9SF83-1", "url": "", "sequence": { "sequence": "MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEPQLEFIL", "length": 45, "header": "tr|A0A0D9SF83-1|A0A0D9SF83_HUMAN Computationally mapped isoform of Inositol polyphosphate-4-phosphatase type II B OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142431259, "end_pos": 142429174, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630044.3", "url": "https://www.ensembl.org/id/ENST00000630044.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000486368.2", "url": "https://www.ensembl.org/id/ENSP00000486368.2" } ] } }, { "isoform_ac": "A0A8I5KPN5-1", "url": "", "sequence": { "sequence": "MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEPQLEFILACKDLVAPVRDRKLNTLVQISVIHPVEQSLTRYSSTEIVEGTRDPLFLTGVTFPSEYPIYEETKIKLTVY", "length": 115, "header": "tr|A0A8I5KPN5-1|A0A8I5KPN5_HUMAN Computationally mapped isoform of Inositol polyphosphate-4-phosphatase type II B OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142431259, "end_pos": 142402965, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692370.1", "url": "https://www.ensembl.org/id/ENST00000692370.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508922.1", "url": "https://www.ensembl.org/id/ENSP00000508922.1" } ] } }, { "isoform_ac": "A0A8I5KVN1-1", "url": "", "sequence": { "sequence": "MEIKEEGASEEGQHFLPTAQAND", "length": 23, "header": "tr|A0A8I5KVN1-1|INP4B_HUMAN Computationally mapped isoform of Inositol polyphosphate 4-phosphatase type II OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142431259, "end_pos": 142431191, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690114.1", "url": "https://www.ensembl.org/id/ENST00000690114.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510027.1", "url": "https://www.ensembl.org/id/ENSP00000510027.1" } ] } }, { "isoform_ac": "D6R9J5-1", "url": "", "sequence": { "sequence": "MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEP", "length": 39, "header": "tr|D6R9J5-1|D6R9J5_HUMAN Computationally mapped isoform of Inositol polyphosphate-4-phosphatase type II B OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142431259, "end_pos": 142429192, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503927.5", "url": "https://www.ensembl.org/id/ENST00000503927.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422052.1", "url": "https://www.ensembl.org/id/ENSP00000422052.1" } ] } }, { "isoform_ac": "D6RDJ7-1", "url": "", "sequence": { "sequence": "MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEPQLEFILGN", "length": 47, "header": "tr|D6RDJ7-1|D6RDJ7_HUMAN Computationally mapped isoform of Inositol polyphosphate-4-phosphatase type II B OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142431259, "end_pos": 142423813, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506000.5", "url": "https://www.ensembl.org/id/ENST00000506000.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420888.1", "url": "https://www.ensembl.org/id/ENSP00000420888.1" } ] } }, { "isoform_ac": "D6RE59-1", "url": "", "sequence": { "sequence": "MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEPQLEFILACKDLVAPVRDRKLNTLVQISVIHPVEQSLTRYSSTEIV", "length": 84, "header": "tr|D6RE59-1|D6RE59_HUMAN Computationally mapped isoform of Inositol polyphosphate-4-phosphatase type II B OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142431259, "end_pos": 142405209, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506788.5", "url": "https://www.ensembl.org/id/ENST00000506788.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426957.1", "url": "https://www.ensembl.org/id/ENSP00000426957.1" } ] } }, { "isoform_ac": "D6RJC3-1", "url": "", "sequence": { "sequence": "MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEPQLEFILACKDLVAPVRDRKLNTLVQISVIHPVEQSLTRYSSTEIVEGTRDPLFLTGVTFPSEYPIYEETKIKLTVYDVKDKSHDTVRTSVLPEHKDPPPEVGRSFLGYASFKVGELLKSKEQLLVLSLRTSDGGKVVGTIEVSVVKMGEIEDGEADHITTDVQGQKCALVCECTAPESVSGKDNLPFLNSVLKNPVCKLYRFPTSDNKWMRIREQMSESILSFHIPKELISLHIKEDLCRNQEIKELGELSPHWDNLRKNVLTHCDQMVNMYQDILTELSKETGSSFKSSSSKGEKTLEFVPINLHLQRMQVHSPHLKDALYDVITVGAPAAHFQGFKNGGLRKLLHRFETERRNTGYQFIYYSPENTAKAKEVLSNINQLQPLIATHADLLLNSASQHSPDSLKNSLKMLSEKTELFVHAFKDQLVRSALLALYTARPGGILKKPPSPKSSTEESSPQDQPPVMRGQDSIPHHSDYDEEEWDRVWANVGKSLNCIIAMVDKLIERDGGSEGSGGNNDGEKEPSLTDAIPSHPREDWYEQLYPLILTLKDCMGEVVNRAKQSLTFVLLQELAYSLPQCLMLTLRRDIVFSQALAGLVCGFIIKLQTSLYDPGFLQQLHTVGLIVQYEGLLSTYSDEIGMLEDMAVGISDLKKVAFKIIEAKSNDVLPVITGRREHYVVEVKLPARMFESLPLQIKEGQLLHVYPVLFNVGINEQQTLAERFGDVSLQESINQENFELLQEYYKIFMEKMPPDYISHFQEQNDLKALLENLLQNIQSKK", "length": 817, "header": "tr|D6RJC3-1|D6RJC3_HUMAN Computationally mapped isoform of phosphatidylinositol-3,4-bisphosphate 4-phosphatase OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142431259, "end_pos": 142086180, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000510812.5", "url": "https://www.ensembl.org/id/ENST00000510812.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000427250.1", "url": "https://www.ensembl.org/id/ENSP00000427250.1" } ] } }, { "isoform_ac": "E7EQN9-1", "url": "", "sequence": { "sequence": "MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEPQLEFILACKDLVAPVRDRKLNTLVQISVIHPVEQSLTRYSSTEIVEGTRDPLFLTGVTFPSEYPIYEETKIKLTVYDVKDKSHDTVRTSVLPEHKDPPPEVGRSFLGYASFKVGELLKSKEQLLVLSLRTSDGGKVVGTIEVSVVKMGEIEDGEADHITTDVQGQKCALVCECTAPESVSGKDNLPFLNSVLKNPVCKLYRFPTSDNKWMRIREQMSESILSFHIPKELISLHIKEDLCRNQEIKELGELSPHWDNLRKNVLTHCDQMVNMYQDILTELSKETGSSFKSSSSKGEKTLEFVPINLHLQRMQVHSPHLKDALYDVITVGAPAAHFQGFKNGGLRKLLHRFETERRNTGYQFIYYSPENTAKAKEVLSNINQLQPLIATHADLLLNSASQHSPDSLKNSLKMLSEKTELFVHAFKDQLVRSALLALYTARPGGILKKPPSPKSSTEESSPQDQPPVMRGQDSIPHHSDYDEEEWDRVWANVGKSLNCIIAMVDKLIERDGGSEGSGGNNDGEKEPSLTDAIPSHPREDWYEQLYPLILTLKDCMGEVVNRAKQSLTFVLLQELAYSLPQCLMLTLRRDIVFSQALAGLVCGFIIKLQTSLYDPGFLQQLHTVGLIVQYEGLLSTYSDEIGMLEDMAVGISDLKKVAFKIIEAKSNDVLPVITGRREHYVVEVKLPARMFESLPLQIKEGQLLHVYPVLFNVGINEQQTLAERFGDVSLQESINQENFELLQEYYKIFMEKMPPDYISHFQEQNDLKALLENLLQNIQSKKRKNVEIMWLAATICRKLNGIRFTCCKSAKDRTSMSVTLEQCSILRDEHQLHKDFFIRALDCMRSRQTQGALNESDDPETGCLTDNKPTSRHFYPVALLLVSSHLLVVWLILSLALLLAKYQ", "length": 938, "header": "tr|E7EQN9-1|INP4B_HUMAN Computationally mapped isoform of Inositol polyphosphate 4-phosphatase type II OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142431259, "end_pos": 142030131, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509777.5", "url": "https://www.ensembl.org/id/ENST00000509777.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422793.1", "url": "https://www.ensembl.org/id/ENSP00000422793.1" } ] } }, { "isoform_ac": "E9PCZ3-1", "url": "", "sequence": { "sequence": "MGEIEDGEADHITTDVQGQKCALVCECTAPESVSGKDNLPFLNSVLKNPVCKLYRFPTSDNKWMRIREQMSESILSFHIPKELISLHIKEDLCRNQEIKELGELSPHWDNLRKNVLTHCDQMVNMYQDILTELSKETGSSFKSSSSKGEKTLEFVPINLHLQRMQVHSPHLKDALYDVITVGAPAAHFQGFKNGGLRKLLHRFETERRNTGYQFIYYSPENTAKAKEVLSNINQLQPLIATHADLLLNSASQHSPDSLKNSLKMLSEKTELFVHAFKDQLVRSALLALYTARPGGILKKPPSPKSSTEESSPQDQPPVMRGQDSIPHHSDYDEEEWDRVWANVGKSLNCIIAMVDKLIERDGGSEGSGGNNDGEKEPSLTDAIPSHPREDWYEQLYPLILTLKDCMGEVVNRAKQSLTFVLLQELAYSLPQCLMLTLRRDIVFSQALAGLVCGFIIKLQTSLYDPGFLQQLHTVGLIVQYEGLLSTYSDEIGMLEDMAVGISDLKKVAFKIIEAKSNDVLPVITGRREHYVVEVKLPARMFESLPLQIKEGQLLHVYPVLFNVGINEQQTLAERFGDVSLQESINQENFELLQEYYKIFMEKMPPDYISHFQEQNDLKALLENLLQNIQSKKRKNVEIMWLAATICRKLNGIRFTCCKSAKDRTSMSVTLEQCSILRDEHQLHKDFFIRALDCMRSRQTQGALNESDDPETGCLTDNKPTSRHFYPVALLLVSSHLLVVWLILSLALLLAKYQ", "length": 753, "header": "tr|E9PCZ3-1|E9PCZ3_HUMAN Computationally mapped isoform of Inositol polyphosphate-4-phosphatase type II B OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=2 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142270722, "end_pos": 142030131, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511838.6", "url": "https://www.ensembl.org/id/ENST00000511838.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000426207.2", "url": "https://www.ensembl.org/id/ENSP00000426207.2" } ] } }, { "isoform_ac": "E9PG59-1", "url": "", "sequence": { "sequence": "MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEPQLEFILACKDLVAPVRDRKLNTLVQISVIHPVEQSLTRYSSTEIVEGTRDPLFLTGVTFPSEYPIYEETKIKLTVYDVKDKSHDTVRTSVLPEHKDPPPEVGRSFLGYASFKVGELLKSKEQLLVLSLRTSDGGKVVGTIEVSVVKMGEIEDGEADHITTDVQGQKCALVCECTAPESVSGKDNLPFLNSVLKNPVCKLYRFPTSDNKWMRIREQMSESILSFHIPKELISLHIKEDLCRNQEIKELGELSPHWDNLRKNVLTHCDQMVNMYQDILTELSKETGSSFKSSSSKGEKTLEFVPINLHLQRMQMLSTMSSLWEPQLPIFRDLRMVVFGSYSIDLKQKEEIPDTSLFTIHLKTQPKQRKFSATSINYNLL", "length": 416, "header": "tr|E9PG59-1|INP4B_HUMAN Computationally mapped isoform of Inositol polyphosphate 4-phosphatase type II OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142431259, "end_pos": 142173721, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512630.5", "url": "https://www.ensembl.org/id/ENST00000512630.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423771.1", "url": "https://www.ensembl.org/id/ENSP00000423771.1" } ] } }, { "isoform_ac": "E9PHC0-1", "url": "", "sequence": { "sequence": "MIHFHPLILPHERSFLGYASFKVGELLKSKEQLLVLSLRTSDGGKVVGTIEVSVVKMGEIEDGEADHITTDVQGQKCALVCECTAPESVSGKDNLPFLNSVLKNPVCKLYRFPTSDNKWMRIREQMSESILSFHIPKELISLHIKEDLCRNQEIKELGELSPHWDNLRKNVLTHCDQMVNMYQDILTELSKETGSSFKSSSSKGEKTLEFVPINLHLQRMQVHSPHLKDALYDVITVGAPAAHFQGFKNGGLRKLLHRFETERRNTGYQFIYYSPENTAKAKEVLSNINQLQPLIATHADLLLNSASQHSPDSLKNSLKMLSEKTELFVHAFKDQLVRSALLALYTARPGGILKKPPSPKSSTEESSPQDQPPVMRGQDSIPHHSDYDEEEWDRVWANVGKSLNCIIAMVDKLIERDGGSEGSGGNNDGEKEPSLTDAIPSHPREDWYEQLYPLILTLKDCMGEVVNRAKQSLTFVLLQELAYSLPQCLMLTLRRDIVFSQALAGLVCGFIIKLQTSLYDPGFLQQLHTVGLIVQYEGLLSTYSDEIGMLEDMAVGISDLKKVAFKIIEAKSNDVLPVITGRREHYVVEVKLPARMFESLPLQIKEGQLLHVYPVLFNVGINEQQTLAERFGDVSLQESINQENFELLQEYYKIFMEKMPPDYISHFQEQNDLKALLENLLQNIQS", "length": 686, "header": "tr|E9PHC0-1|INP4B_HUMAN Computationally mapped isoform of Inositol polyphosphate 4-phosphatase type II OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142305735, "end_pos": 142086186, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514525.1", "url": "https://www.ensembl.org/id/ENST00000514525.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000421065.1", "url": "https://www.ensembl.org/id/ENSP00000421065.1" } ] } }, { "isoform_ac": "H0Y9Q3-1", "url": "", "sequence": { "sequence": "EYPIYEETKIKLTVYDVKDKSHDTFRINRLTSL", "length": 33, "header": "tr|H0Y9Q3-1|H0Y9Q3_HUMAN Computationally mapped isoform of Inositol polyphosphate-4-phosphatase type II B OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142403009, "end_pos": 142347530, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506297.5", "url": "https://www.ensembl.org/id/ENST00000506297.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424731.1", "url": "https://www.ensembl.org/id/ENSP00000424731.1" } ] } }, { "isoform_ac": "H0YA10-1", "url": "", "sequence": { "sequence": "XIHPVEQSLTRYSSTEIVEGTRDPLFLTGVTFPSEYPIYEETKIKLTVYDVKDKSHDTIANSSRI", "length": 65, "header": "tr|H0YA10-1|INP4B_HUMAN Computationally mapped isoform of Inositol polyphosphate 4-phosphatase type II OS=Homo sapiens OX=9606 GN=INPP4B PE=1 SV=1 CANONICAL=O15327-1" }, "locus": { "chromosome": "4", "start_pos": 142405260, "end_pos": 142384094, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507462.5", "url": "https://www.ensembl.org/id/ENST00000507462.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425764.1", "url": "https://www.ensembl.org/id/ENSP00000425764.1" } ] } }, { "isoform_ac": "O15327-1", "url": "", "sequence": { "sequence": 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"url": "https://glygen.org/publication/PubMed/17322306" } ], "site_lbl": "Tyr792" }, { "start_pos": 794, "end_pos": 794, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15327" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ], "site_lbl": "Ser794" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A novel SH2-containing phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase (SHIP2) is constitutively tyrosine phosphorylated and associated with src homologous and collagen gene (SHC) in chronic myelogenous leukemia progenitor cells.", "journal": "Blood", "date": "1999", "authors": "Wisniewski D, Strife A, Swendeman S, Erdjument-Bromage H, Geromanos S, Kavanaugh WM, Tempst P, Clarkson B", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10194451", "url": "https://glygen.org/publication/PubMed/10194451" } ] }, { "title": "SAC1-like domains of yeast SAC1, INP52, and INP53 and 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": "PIKfyve, a mammalian ortholog of yeast Fab1p lipid kinase, synthesizes 5-phosphoinositides. Effect of insulin.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sbrissa D, Ikonomov OC, Shisheva A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "10419465", "url": "https://glygen.org/publication/PubMed/10419465" } ] }, { "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" } ], "reference": [ { "type": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] }, { "title": "ARF mediates recruitment of PtdIns-4-OH kinase-beta and stimulates synthesis of PtdIns(4,5)P2 on the Golgi complex.", "journal": "Nature cell biology", "date": "1999", "authors": "Godi A, Pertile P, Meyers R, Marra P, Di Tullio G, Iurisci C, Luini A, Corda D, De Matteis MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10559940", "url": "https://glygen.org/publication/PubMed/10559940" } ] }, { "title": "Novel inositol polyphosphate 5-phosphatase localizes at membrane ruffles.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Mochizuki Y, Takenawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10593988", "url": "https://glygen.org/publication/PubMed/10593988" } ] }, { "title": "Identification and characterization of a novel inositol polyphosphate 5-phosphatase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ijuin T, Mochizuki Y, Fukami K, Funaki M, Asano T, Takenawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10753883", "url": "https://glygen.org/publication/PubMed/10753883" } ] }, { "title": "The class II phosphoinositide 3-kinase PI3K-C2alpha is concentrated in the trans-Golgi network and present in clathrin-coated vesicles.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Domin J, Gaidarov I, Smith ME, Keen JH, Waterfield MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "10766823", "url": "https://glygen.org/publication/PubMed/10766823" } ] }, { "title": "Class II phosphoinositide 3-kinases are downstream targets of activated polypeptide growth factor receptors.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Arcaro A, Zvelebil MJ, Wallasch C, Ullrich A, Waterfield MD, Domin J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "10805725", "url": "https://glygen.org/publication/PubMed/10805725" } ] }, { "title": "The phosphatidylinositol polyphosphate 5-phosphatase SHIP1 associates with the dok1 phosphoprotein in bcr-Abl transformed cells.", "journal": "Cellular signalling", "date": "2000", "authors": "Dunant NM, Wisniewski D, Strife A, Clarkson B, Resh MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10822173", "url": "https://glygen.org/publication/PubMed/10822173" } ] }, { "title": "Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities.", "journal": "The Biochemical journal", "date": "2000", "authors": "Dowler S, Currie RA, Campbell DG, Deak M, Kular G, Downes CP, Alessi DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11001876", "url": "https://glygen.org/publication/PubMed/11001876" } ] }, { "title": "Synaptojanin 2, a novel Rac1 effector that regulates clathrin-mediated endocytosis.", "journal": "Current biology : CB", "date": "2000", "authors": "Malecz N, McCabe PC, Spaargaren C, Qiu R, Chuang Y, Symons M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11084340", "url": "https://glygen.org/publication/PubMed/11084340" } ] }, { "title": "Cloning of a human type II phosphatidylinositol 4-kinase reveals a novel lipid kinase family.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Minogue S, Anderson JS, Waugh MG, dos Santos M, Corless S, Cramer R, Hsuan JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11279162", "url": "https://glygen.org/publication/PubMed/11279162" } ] }, { "title": "FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphotidylinositol 3-phosphate.", "journal": "Experimental cell research", "date": "2001", "authors": "Zhao R, Qi Y, Chen J, Zhao ZJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11302699", "url": "https://glygen.org/publication/PubMed/11302699" } ] }, { "title": "The Src homology 2 domain containing inositol 5-phosphatase SHIP2 is recruited to the epidermal growth factor (EGF) receptor and dephosphorylates phosphatidylinositol 3,4,5-trisphosphate in EGF-stimulated COS-7 cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Pesesse X, Dewaste V, De Smedt F, Laffargue M, Giuriato S, Moreau C, Payrastre B, Erneux C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11349134", "url": "https://glygen.org/publication/PubMed/11349134" } ] }, { "title": "PIP kinase Igamma is the major PI(4,5)P(2) synthesizing enzyme at the synapse.", "journal": "Neuron", "date": "2001", "authors": "Wenk MR, Pellegrini L, Klenchin VA, Di Paolo G, Chang S, Daniell L, Arioka M, Martin TF, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11604140", "url": "https://glygen.org/publication/PubMed/11604140" } ] }, { "title": "Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity.", "journal": "Current biology : CB", "date": "2001", "authors": "Walker DM, Urbe S, Dove SK, Tenza D, Raposo G, Clague MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11676921", "url": "https://glygen.org/publication/PubMed/11676921" } ] }, { "title": "Phosphatidylinositol 3-phosphate-interacting domains in PIKfyve. Binding specificity and role in PIKfyve. Endomenbrane localization.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Sbrissa D, Ikonomov OC, Shisheva A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "11706043", "url": "https://glygen.org/publication/PubMed/11706043" } ] }, { "title": "Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kim SA, Taylor GS, Torgersen KM, Dixon JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11733541", "url": "https://glygen.org/publication/PubMed/11733541" } ] }, { "title": "Interaction between tyrosine kinase Etk and a RUN domain- and FYVE domain-containing protein RUFY1. 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": "Characterization of type II phosphatidylinositol 4-kinase isoforms reveals association of the enzymes with endosomal vesicular compartments.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Balla A, Tuymetova G, Barshishat M, Geiszt M, Balla T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11923287", "url": "https://glygen.org/publication/PubMed/11923287" } ] }, { "title": "TAPP1 and TAPP2 are targets of phosphatidylinositol 3-kinase signaling in B cells: sustained plasma membrane recruitment triggered by the B-cell antigen receptor.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Marshall AJ, Krahn AK, Ma K, Duronio V, Hou S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12101241", "url": "https://glygen.org/publication/PubMed/12101241" } ] }, { "title": "The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.", "journal": "Journal of cell science", "date": "2002", "authors": "Laporte J, Blondeau F, Gansmuller A, Lutz Y, Vonesch JL, Mandel JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12118066", "url": "https://glygen.org/publication/PubMed/12118066" } ] }, { "title": "Type II phosphatidylinositol 4-kinase beta is a cytosolic and peripheral membrane protein that is recruited to the plasma membrane and activated by Rac-GTP.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wei YJ, Sun HQ, Yamamoto M, Wlodarski P, Kunii K, Martinez M, Barylko B, Albanesi JP, Yin HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12324459", "url": "https://glygen.org/publication/PubMed/12324459" } ] }, { "title": "Recruitment and regulation of phosphatidylinositol phosphate kinase type 1 gamma by the FERM domain of talin.", "journal": "Nature", "date": "2002", "authors": "Di Paolo G, Pellegrini L, Letinic K, Cestra G, Zoncu R, Voronov S, Chang S, Guo J, Wenk MR, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12422219", "url": "https://glygen.org/publication/PubMed/12422219" } ] }, { "title": "Identification of a novel domain in two mammalian inositol-polyphosphate 5-phosphatases that mediates membrane ruffle localization. The inositol 5-phosphatase skip localizes to the endoplasmic reticulum and translocates to membrane ruffles following epidermal growth factor stimulation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Gurung R, Tan A, Ooms LM, McGrath MJ, Huysmans RD, Munday AD, Prescott M, Whisstock JC, Mitchell CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12536145", "url": "https://glygen.org/publication/PubMed/12536145" } ] }, { "title": "Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.", "journal": "Current biology : CB", "date": "2003", "authors": "Schaletzky J, Dove SK, Short B, Lorenzo O, Clague MJ, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12646134", "url": "https://glygen.org/publication/PubMed/12646134" } ] }, { "title": "Membrane-binding and activation mechanism of PTEN.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Das S, Dixon JE, Cho W", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12808147", "url": "https://glygen.org/publication/PubMed/12808147" } ] }, { "title": "ARF6 stimulates clathrin/AP-2 recruitment to synaptic membranes by activating phosphatidylinositol phosphate kinase type Igamma.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Krauss M, Kinuta M, Wenk MR, De Camilli P, Takei K, Haucke V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12847086", "url": "https://glygen.org/publication/PubMed/12847086" } ] }, { "title": "Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell KK, Mochizuki Y, Majerus PW, Mitchell CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "12847286", "url": "https://glygen.org/publication/PubMed/12847286" } ] }, { "title": "Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Mochizuki Y, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "12890864", "url": "https://glygen.org/publication/PubMed/12890864" } ] }, { "title": "cDNA cloning of human and rat brain myo-inositol monophosphatase. Expression and characterization of the human recombinant enzyme.", "journal": "The Biochemical journal", "date": "1992", "authors": "McAllister G, Whiting P, Hammond EA, Knowles MR, Atack JR, Bailey FJ, Maigetter R, Ragan CI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "1377913", "url": "https://glygen.org/publication/PubMed/1377913" } ] }, { "title": "Interaction of the protein tyrosine phosphatase PTPL1 with the PtdIns(3,4)P2-binding adaptor protein TAPP1.", "journal": "The Biochemical journal", "date": "2003", "authors": "Kimber WA, Deak M, Prescott AR, Alessi DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "14516276", "url": "https://glygen.org/publication/PubMed/14516276" } ] }, { "title": "Rabip4' is an effector of rab5 and rab4 and regulates transport through early endosomes.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Fouraux MA, Deneka M, Ivan V, van der Heijden A, Raymackers J, van Suylekom D, van Venrooij WJ, van der Sluijs P, Pruijn GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "14617813", "url": "https://glygen.org/publication/PubMed/14617813" } ] }, { "title": "Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Tronchere H, Laporte J, Pendaries C, Chaussade C, Liaubet L, Pirola L, Mandel JL, Payrastre B", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "14660569", "url": "https://glygen.org/publication/PubMed/14660569" } ] }, { "title": "Human 1-D-myo-inositol-3-phosphate synthase is functional in yeast.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ju S, Shaltiel G, Shamir A, Agam G, Greenberg ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "15024000", "url": "https://glygen.org/publication/PubMed/15024000" } ] }, { "title": "InsP3-mediated intracellular calcium signalling is altered by expression of synaptojanin-1.", "journal": "The Biochemical journal", "date": "2004", "authors": "Johenning FW, Wenk MR, Uhlen P, Degray B, Lee E, De Camilli P, Ehrlich BE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "15080793", "url": "https://glygen.org/publication/PubMed/15080793" } ] }, { "title": "FAPPs control Golgi-to-cell-surface membrane traffic by binding to ARF and PtdIns(4)P.", "journal": "Nature cell biology", "date": "2004", "authors": "Godi A, Di Campli A, Konstantakopoulos A, Di Tullio G, Alessi DR, Kular GS, Daniele T, Marra P, Lucocq JM, De Matteis MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "15107860", "url": "https://glygen.org/publication/PubMed/15107860" } ] }, { "title": "Cloning, expression, purification, and characterization of the human Class Ia phosphoinositide 3-kinase isoforms.", "journal": "Protein expression and purification", "date": "2004", "authors": "Meier TI, Cook JA, Thomas JE, Radding JA, Horn C, Lingaraj T, Smith MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "15135396", "url": "https://glygen.org/publication/PubMed/15135396" } ] }, { "title": "Regulation and cellular roles of phosphoinositide 5-kinases.", "journal": "European journal of pharmacology", "date": "2004", "authors": "Oude Weernink PA, Schmidt M, Jakobs KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "15464023", "url": "https://glygen.org/publication/PubMed/15464023" } ] }, { "title": "Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation.", "journal": "FEBS letters", "date": "2004", "authors": "Schmid AC, Wise HM, Mitchell CA, Nussbaum R, Woscholski R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "15474001", "url": "https://glygen.org/publication/PubMed/15474001" } ] }, { "title": "Molecular cloning, expression, and characterization of myo-inositol oxygenase from mouse, rat, and human kidney.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Arner RJ, Prabhu KS, Reddy CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "15504367", "url": "https://glygen.org/publication/PubMed/15504367" } ] }, { "title": "The type Ialpha inositol polyphosphate 4-phosphatase generates and terminates phosphoinositide 3-kinase signals on endosomes and the plasma membrane.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Ivetac I, Munday AD, Kisseleva MV, Zhang XM, Luff S, Tiganis T, Whisstock JC, Rowe T, Majerus PW, Mitchell CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "15716355", "url": "https://glygen.org/publication/PubMed/15716355" } ] }, { "title": "p84, a new Gbetagamma-activated regulatory subunit of the type IB phosphoinositide 3-kinase p110gamma.", "journal": "Current biology : CB", "date": "2005", "authors": "Suire S, Coadwell J, Ferguson GJ, Davidson K, Hawkins P, Stephens L", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "15797027", "url": "https://glygen.org/publication/PubMed/15797027" } ] }, { "title": "Analysis of phosphoinositide binding domain properties within the myotubularin-related protein MTMR3.", "journal": "Journal of cell science", "date": "2005", "authors": "Lorenzo O, Urbe S, Clague MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "15840652", "url": "https://glygen.org/publication/PubMed/15840652" } ] }, { "title": "Characterization of the role of the Rab GTPase-activating protein AS160 in insulin-regulated GLUT4 trafficking.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Larance M, Ramm G, Stockli J, van Dam EM, Winata S, Wasinger V, Simpson F, Graham M, Junutula JR, Guilhaus M, James DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "16154996", "url": "https://glygen.org/publication/PubMed/16154996" } ] }, { "title": "Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2.", "journal": "Human molecular genetics", "date": "2006", "authors": "Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "16399794", "url": "https://glygen.org/publication/PubMed/16399794" } ] }, { "title": "Characterization of p87PIKAP, a novel regulatory subunit of phosphoinositide 3-kinase gamma that is highly expressed in heart and interacts with PDE3B.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Voigt P, Dorner MB, Schaefer M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "16476736", "url": "https://glygen.org/publication/PubMed/16476736" } ] }, { "title": "The Rab4 effector Rabip4 plays a role in the endocytotic trafficking of Glut 4 in 3T3-L1 adipocytes.", "journal": "Journal of cell science", "date": "2006", "authors": "Mari M, Monzo P, Kaddai V, Keslair F, Gonzalez T, Le Marchand-Brustel Y, Cormont M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "16522682", "url": "https://glygen.org/publication/PubMed/16522682" } ] }, { "title": "Isolation and characterization of two 3-phosphatases that hydrolyze both phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Caldwell KK, Lips DL, Bansal VS, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "1655747", "url": "https://glygen.org/publication/PubMed/1655747" } ] }, { "title": "Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions.", "journal": "Journal of cell science", "date": "2006", "authors": "Lorenzo O, Urbe S, Clague MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "16787938", "url": "https://glygen.org/publication/PubMed/16787938" } ] }, { "title": "Specificity of the myotubularin family of phosphatidylinositol-3-phosphatase is determined by the PH/GRAM domain.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Choudhury P, Srivastava S, Li Z, Ko K, Albaqumi M, Narayan K, Coetzee WA, Lemmon MA, Skolnik EY", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "16914545", "url": "https://glygen.org/publication/PubMed/16914545" } ] }, { "title": "A role for PtdIns(4,5)P2 and PIP5Kalpha in regulating stress-induced apoptosis.", "journal": "Current biology : CB", "date": "2006", "authors": "Halstead JR, van Rheenen J, Snel MH, Meeuws S, Mohammed S, D'Santos CS, Heck AJ, Jalink K, Divecha N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "16979564", "url": "https://glygen.org/publication/PubMed/16979564" } ] }, { "title": "A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.", "journal": "Human molecular genetics", "date": "2006", "authors": "Tosch V, Rohde HM, Tronchere H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "17008356", "url": "https://glygen.org/publication/PubMed/17008356" } ] }, { "title": "Spatial expression patterns and biochemical properties distinguish a second myo-inositol monophosphatase IMPA2 from IMPA1.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Ohnishi T, Ohba H, Seo KC, Im J, Sato Y, Iwayama Y, Furuichi T, Chung SK, Yoshikawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "17068342", "url": "https://glygen.org/publication/PubMed/17068342" } ] }, { "title": "Cloning and expression of human 75-kDa inositol polyphosphate-5-phosphatase.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Ross TS, Jefferson AB, Mitchell CA, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "1718960", "url": "https://glygen.org/publication/PubMed/1718960" } ] }, { "title": "Phospholipase D signaling: orchestration by PIP2 and small GTPases.", "journal": "Naunyn-Schmiedeberg's archives of pharmacology", "date": "2007", "authors": "Oude Weernink PA, Lopez de Jesus M, Schmidt M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "17245604", "url": "https://glygen.org/publication/PubMed/17245604" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O15327-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15327-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Sbrissa D, Ikonomov OC, Fu Z, Ijuin T, Gruenberg J, Takenawa T, Shisheva A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "17556371", "url": "https://glygen.org/publication/PubMed/17556371" } ] }, { "title": "Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2007", "authors": "Cao C, Laporte J, Backer JM, Wandinger-Ness A, Stein MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "17651088", "url": "https://glygen.org/publication/PubMed/17651088" } ] }, { "title": "Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the Old Order Amish: evidence for replication from diabetes-related quantitative traits and from independent populations.", "journal": "Diabetes", "date": "2007", "authors": "Rampersaud E, Damcott CM, Fu M, Shen H, McArdle P, Shi X, Shelton J, Yin J, Chang YP, Ott SH, Zhang L, Zhao Y, Mitchell BD, O'Connell J, Shuldiner AR", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" } ], "reference": [ { "type": "PubMed", "id": "17846126", "url": "https://glygen.org/publication/PubMed/17846126" } ] }, { "title": "The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals.", "journal": "Neuron", "date": "2007", "authors": "Mani M, Lee SY, Lucast L, Cremona O, Di Paolo G, De Camilli P, Ryan TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "18093523", "url": "https://glygen.org/publication/PubMed/18093523" } ] }, { "title": "Structural and biophysical characterization of human myo-inositol oxygenase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Thorsell AG, Persson C, Voevodskaya N, Busam RD, Hammarstrom M, Graslund S, Graslund A, Hallberg BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "18364358", "url": "https://glygen.org/publication/PubMed/18364358" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O15327-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15327-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Cao C, Backer JM, Laporte J, Bedrick EJ, Wandinger-Ness A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "18524850", "url": "https://glygen.org/publication/PubMed/18524850" } ] }, { "title": "Localization of phosphatidylinositol phosphate kinase IIgamma in kidney to a membrane trafficking compartment within specialized cells of the nephron.", "journal": "American journal of physiology. Renal physiology", "date": "2008", "authors": "Clarke JH, Emson PC, Irvine RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "18753295", "url": "https://glygen.org/publication/PubMed/18753295" } ] }, { "title": "ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality.", "journal": "Journal of molecular biology", "date": "2008", "authors": "Sbrissa D, Ikonomov OC, Fenner H, Shisheva A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "18950639", "url": "https://glygen.org/publication/PubMed/18950639" } ] }, { "title": "MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Zou J, Chang SC, Marjanovic J, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "19038970", "url": "https://glygen.org/publication/PubMed/19038970" } ] }, { "title": "Evidence that inositol polyphosphate 4-phosphatase type II is a tumor suppressor that inhibits PI3K signaling.", "journal": "Cancer cell", "date": "2009-08-04", "authors": "Gewinner Christina, Wang Zhigang C, Richardson Andrea, Teruya-Feldstein Julie, Etemadmoghadam Dariush, Bowtell David, Barretina Jordi, Lin William M, Rameh Lucia, Salmena Leonardo, Pandolfi Pier Paolo, Cantley Lewis C", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "reference": [ { "type": "PubMed", "id": "19647222", "url": "https://glygen.org/publication/PubMed/19647222" } ] }, { "title": "Localization, regulation and function of type II phosphatidylinositol 5-phosphate 4-kinases.", "journal": "Advances in enzyme regulation", "date": "2010", "authors": "Clarke JH, Wang M, Irvine RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "19896968", "url": "https://glygen.org/publication/PubMed/19896968" } ] }, { "title": "PI3KC2alpha, a class II PI3K, is required for dynamin-independent internalization pathways.", "journal": "Journal of cell science", "date": "2010", "authors": "Krag C, Malmberg EK, Salcini AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "21081650", "url": "https://glygen.org/publication/PubMed/21081650" } ] }, { "title": "Role of TAPP1 and TAPP2 adaptor binding to PtdIns(3,4)P2 in regulating insulin sensitivity defined by knock-in analysis.", "journal": "The Biochemical journal", "date": "2011", "authors": "Wullschleger S, Wasserman DH, Gray A, Sakamoto K, Alessi DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "21204784", "url": "https://glygen.org/publication/PubMed/21204784" } ] }, { "title": "Identification and characterization of splicing variants of PLEKHA5 (Plekha5) during brain development.", "journal": "Gene", "date": "2012", "authors": "Yamada K, Nomura N, Yamano A, Yamada Y, Wakamatsu N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "22037487", "url": "https://glygen.org/publication/PubMed/22037487" } ] }, { "title": "Myotubularin-related protein (MTMR) 9 determines the enzymatic activity, substrate specificity, and role in autophagy of MTMR8.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Zou J, Zhang C, Marjanovic J, Kisseleva MV, Majerus PW, Wilson MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "22647598", "url": "https://glygen.org/publication/PubMed/22647598" } ] }, { "title": "RUFY, Rab and Rap Family Proteins Involved in a Regulation of Cell Polarity and Membrane Trafficking.", "journal": "International journal of molecular sciences", "date": "2013", "authors": "Kitagishi Y, Matsuda S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "23519112", "url": "https://glygen.org/publication/PubMed/23519112" } ] }, { "title": "Evolutionarily conserved structural changes in phosphatidylinositol 5-phosphate 4-kinase (PI5P4K) isoforms are responsible for differences in enzyme activity and localization.", "journal": "The Biochemical journal", "date": "2013", "authors": "Clarke JH, Irvine RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "23758345", "url": "https://glygen.org/publication/PubMed/23758345" } ] }, { "title": "Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.", "journal": "PLoS genetics", "date": "2013", "authors": "Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "23818870", "url": "https://glygen.org/publication/PubMed/23818870" } ] }, { "title": "Determinants of the tumor suppressor INPP4B protein and lipid phosphatase activities.", "journal": "Biochemical and biophysical research communications", "date": "2013", "authors": "Lopez SM, Hodgson MC, Packianathan C, Bingol-Ozakpinar O, Uras F, Rosen BP, Agoulnik IU", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "reference": [ { "type": "PubMed", "id": "24070612", "url": "https://glygen.org/publication/PubMed/24070612" } ] }, { "title": "Sequential breakdown of 3-phosphorylated phosphoinositides is essential for the completion of macropinocytosis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Maekawa M, Terasaka S, Mochizuki Y, Kawai K, Ikeda Y, Araki N, Skolnik EY, Taguchi T, Arai H", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "reference": [ { "type": "PubMed", "id": "24591580", "url": "https://glygen.org/publication/PubMed/24591580" } ] }, { "title": "The function of phosphatidylinositol 5-phosphate 4-kinase gamma (PI5P4Kgamma) explored using a specific inhibitor that targets the PI5P-binding site.", "journal": "The Biochemical journal", "date": "2015", "authors": "Clarke JH, Giudici ML, Burke JE, Williams RL, Maloney DJ, Marugan J, Irvine RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "25495341", "url": "https://glygen.org/publication/PubMed/25495341" } ] }, { "title": "Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.", "journal": "The Journal of cell biology", "date": "2015", "authors": "Nakatsu F, Messa M, Nandez R, Czapla H, Zou Y, Strittmatter SM, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "25869668", "url": "https://glygen.org/publication/PubMed/25869668" } ] }, { "title": "A human interactome in three quantitative dimensions organized by stoichiometries and abundances.", "journal": "Cell", "date": "2015", "authors": "Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA, Weisswange I, Mansfeld J, Buchholz F, Hyman AA, Mann M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "26496610", "url": "https://glygen.org/publication/PubMed/26496610" } ] }, { "title": "Estrogen receptor beta regulates AKT activity through up-regulation of INPP4B and inhibits migration of prostate cancer cell line PC-3.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Chaurasiya S, Wu W, Strom AM, Warner M, Gustafsson JA", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" } ], "reference": [ { "type": "PubMed", "id": "33020300", "url": "https://glygen.org/publication/PubMed/33020300" } ] }, { "title": "Expression and functional characterization of INPP4B in gallbladder cancer patients and gallbladder cancer cells.", "journal": "BMC cancer", "date": "2021", "authors": "Wu Y, Meng D, Xu X, Bao J, You Y, Sun Y, Li Y, Sun D", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" } ], "reference": [ { "type": "PubMed", "id": "33879096", "url": "https://glygen.org/publication/PubMed/33879096" } ] }, { "title": "INPP4B promotes PI3Kalpha-dependent late endosome formation and Wnt/beta-catenin signaling in breast cancer.", "journal": "Nature communications", "date": "2021", "authors": "Rodgers SJ, Ooms LM, Oorschot VMJ, Schittenhelm RB, Nguyen EV, Hamila SA, Rynkiewicz N, Gurung R, Eramo MJ, Sriratana A, Fedele CG, Caramia F, Loi S, Kerr G, Abud HE, Ramm G, Papa A, Ellisdon AM, Daly RJ, McLean CA, Mitchell CA", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" } ], "reference": [ { "type": "PubMed", "id": "34035258", "url": "https://glygen.org/publication/PubMed/34035258" } ] }, { "title": "The INPP4B paradox: Like PTEN, but different.", "journal": "Advances in biological regulation", "date": "2021", "authors": "Hamila SA, Ooms LM, Rodgers SJ, Mitchell CA", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" } ], "reference": [ { "type": "PubMed", "id": "34216856", "url": "https://glygen.org/publication/PubMed/34216856" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15327", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15327" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Regulation of B-1 cell numbers and B cell-mediated antibody production by Inpp4b.", "journal": "Scandinavian journal of immunology", "date": "2023-06-30", "authors": "Xu Meizhen, Ren Jinfeng, Jia Wenyu, Wang Siyu, Liu Yuting, Chen Xinzhu, Shi Jianhong, Wang Hui", "evidence": [ { "database": "RefSeq", "id": "NP_001095139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095139" } ], "reference": [ { "type": "PubMed", "id": "37389566", "url": "https://glygen.org/publication/PubMed/37389566" } ] }, { "title": "The isolation and characterization of cDNA encoding human and rat brain inositol polyphosphate 4-phosphatase.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Norris FA, Auethavekiat V, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "7608176", "url": "https://glygen.org/publication/PubMed/7608176" } ] }, { "title": "Cloning and characterization of a G protein-activated human phosphoinositide-3 kinase.", "journal": "Science (New York, N.Y.)", "date": "1995", "authors": "Stoyanov B, Volinia S, Hanck T, Rubio I, Loubtchenkov M, Malek D, Stoyanova S, Vanhaesebroeck B, Dhand R, Nurnberg B, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "7624799", "url": "https://glygen.org/publication/PubMed/7624799" } ] }, { "title": "A human phosphatidylinositol 3-kinase complex related to the yeast Vps34p-Vps15p protein sorting system.", "journal": "The EMBO journal", "date": "1995", "authors": "Volinia S, Dhand R, Vanhaesebroeck B, MacDougall LK, Stein R, Zvelebil MJ, Domin J, Panaretou C, Waterfield MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "7628435", "url": "https://glygen.org/publication/PubMed/7628435" } ] }, { "title": "Properties of type II inositol polyphosphate 5-phosphatase.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Jefferson AB, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "7721860", "url": "https://glygen.org/publication/PubMed/7721860" } ] }, { "title": "The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Zhang X, Jefferson AB, Auethavekiat V, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "7761412", "url": "https://glygen.org/publication/PubMed/7761412" } ] }, { "title": "Characterization of a cDNA encoding the 43-kDa membrane-associated inositol-polyphosphate 5-phosphatase.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Laxminarayan KM, Chan BK, Tetaz T, Bird PI, Mitchell CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "8006039", "url": "https://glygen.org/publication/PubMed/8006039" } ] }, { "title": "Cloning, heterologous expression, and chromosomal localization of human inositol polyphosphate 1-phosphatase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "York JD, Veile RA, Donis-Keller H, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "8390685", "url": "https://glygen.org/publication/PubMed/8390685" } ] }, { "title": "Purification and characterization of the phosphatidylinositol-3,4,5-trisphosphate phosphatase in bovine thymus.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Kabuyama Y, Nakatsu N, Homma Y, Fukui Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "8681945", "url": "https://glygen.org/publication/PubMed/8681945" } ] }, { "title": "Multiple forms of an inositol polyphosphate 5-phosphatase form signaling complexes with Shc and Grb2.", "journal": "Current biology : CB", "date": "1996", "authors": "Kavanaugh WM, Pot DA, Chin SM, Deuter-Reinhard M, Jefferson AB, Norris FA, Masiarz FR, Cousens LS, Majerus PW, Williams LT", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "8723348", "url": "https://glygen.org/publication/PubMed/8723348" } ] }, { "title": "Cloning and expression of a human placenta inositol 1,3,4,5-tetrakisphosphate and phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Drayer AL, Pesesse X, De Smedt F, Woscholski R, Parker P, Erneux C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": 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Substrate presentation by phosphatidylinositol transfer protein to the p150.Ptdins 3-kinase complex.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Panaretou C, Domin J, Cockcroft S, Waterfield MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "8999962", "url": "https://glygen.org/publication/PubMed/8999962" } ] }, { "title": "The G beta gamma sensitivity of a PI3K is dependent upon a tightly associated adaptor, p101.", "journal": "Cell", "date": "1997", "authors": "Stephens LR, Eguinoa A, Erdjument-Bromage H, Lui M, Cooke F, Coadwell J, Smrcka AS, Thelen M, Cadwallader K, Tempst P, Hawkins PT", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9094719", "url": "https://glygen.org/publication/PubMed/9094719" } ] }, { "title": "P110delta, a novel phosphoinositide 3-kinase in leukocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Vanhaesebroeck B, Welham MJ, Kotani K, Stein R, Warne PH, Zvelebil MJ, Higashi K, Volinia S, Downward J, Waterfield MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9113989", "url": "https://glygen.org/publication/PubMed/9113989" } ] }, { "title": "Phosphatidylinositol-4-phosphate 5-kinase isozymes catalyze the synthesis of 3-phosphate-containing phosphatidylinositol signaling molecules.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Zhang X, Loijens JC, Boronenkov IV, Parker GJ, Norris FA, Chen J, Thum O, Prestwich GD, Majerus PW, Anderson RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9211928", "url": "https://glygen.org/publication/PubMed/9211928" } ] }, { "title": "Phosphatidylinositol 3-kinase in bovine photoreceptor rod outer segments.", "journal": "Investigative ophthalmology & visual science", "date": "1997", "authors": "Guo X, Ghalayini AJ, Chen H, Anderson RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9286278", "url": "https://glygen.org/publication/PubMed/9286278" } ] }, { "title": "The cDNA cloning and characterization of inositol polyphosphate 4-phosphatase type II. Evidence for conserved alternative splicing in the 4-phosphatase family.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Norris FA, Atkins RC, Majerus PW", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" }, { "database": "Reactome", "id": "R-HSA-1660516", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660516" } ], "reference": [ { "type": "PubMed", "id": "9295334", "url": "https://glygen.org/publication/PubMed/9295334" } ] }, { "title": "A new pathway for synthesis of phosphatidylinositol-4,5-bisphosphate.", "journal": "Nature", "date": "1997", "authors": "Rameh LE, Tolias KF, Duckworth BC, Cantley LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9367159", "url": "https://glygen.org/publication/PubMed/9367159" } ] }, { "title": "Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15.", "journal": "FEBS letters", "date": "1997", "authors": "Haffner C, Takei K, Chen H, Ringstad N, Hudson A, Butler MH, Salcini AE, Di Fiore PP, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9428629", "url": "https://glygen.org/publication/PubMed/9428629" } ] }, { "title": "Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Zhang X, Hartz PA, Philip E, Racusen LC, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "9430698", "url": "https://glygen.org/publication/PubMed/9430698" } ] }, { "title": "Cloning and characterization of a novel class II phosphoinositide 3-kinase containing C2 domain.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Misawa H, Ohtsubo M, Copeland NG, Gilbert DJ, Jenkins NA, Yoshimura A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9514948", "url": "https://glygen.org/publication/PubMed/9514948" } ] }, { "title": "A novel class II phosphoinositide 3-kinase predominantly expressed in the liver and its enhanced expression during liver regeneration.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ono F, Nakagawa T, Saito S, Owada Y, Sakagami H, Goto K, Suzuki M, Matsuno S, Kondo H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9516481", "url": 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"https://glygen.org/publication/PubMed/9593664" } ] }, { "title": "Type I phosphatidylinositol-4-phosphate 5-kinases synthesize the novel lipids phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 5-phosphate.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Tolias KF, Rameh LE, Ishihara H, Shibasaki Y, Chen J, Prestwich GD, Cantley LC, Carpenter CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9660759", "url": "https://glygen.org/publication/PubMed/9660759" } ] }, { "title": "Growth factors and insulin stimulate tyrosine phosphorylation of the 51C/SHIP2 protein.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Habib T, Hejna JA, Moses RE, Decker SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9660833", "url": "https://glygen.org/publication/PubMed/9660833" } ] }, { "title": "The lipid phosphatase activity of PTEN is critical for its tumor supressor function.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Myers MP, Pass I, Batty IH, Van der Kaay J, Stolarov JP, Hemmings BA, Wigler MH, Downes CP, Tonks NK", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "9811831", "url": "https://glygen.org/publication/PubMed/9811831" } ] }, { "title": "Human phosphoinositide 3-kinase C2beta, the role of calcium and the C2 domain in enzyme activity.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Arcaro A, Volinia S, Zvelebil MJ, Stein R, Watton SJ, Layton MJ, Gout I, Ahmadi K, Downward J, Waterfield MD", "evidence": [ { 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"MEIKEEGTSEEGQHFLPAAQANDPEDIQFTSIQKSPNEPQLEFILACKDLVAPVSDRKLNTVVQVSVIHPVEQTLTRYSSTEIVEGTKDPLFLTGVTFPSDYPIYEETRIKLTVYDVKDKPHDTIRTSVLPEHKDPPPEVARSFLGCASFKVGELLKSKEQLLSLSLRTSDGGKVVGTIEVSLVKMGEIEDGDTDHITTDVQGQKCALVYDSTAPESLSGKENLPFMNAVLRNPVCKLYRFPTSDNKWMRIREQMSESILSFHIPKELISLHIKEDLCRNQELKELGDLSPHWDNLRNNVLSHCDQMVTMYQDILTELSKETGSSFKSSSSKGEKTLEFVPINLHLQRMQVHSPHLKDALYDVITVGAPAAHFQGFKNGGLRKLLHRFETERRNTGYQFIYYSPENTAKAKEVLSSINQLQPLVATHADLLLTSASQHSPDSLRSSLKLLSEKTELFVHAFKDQLVRSALLALYTARPGGILRKPPSPKVSTEEKSSQHDSPQQLRRQDSIPHHSDYDEEEWDRVWANVGKSLNCIIAKVDKLIERDSRNDKSTGGDSSKDGDADPNLEDSLTSHPREDWYEQLHPLILTLKECMAEVVNRAKQSLTFVLLQELAYSLPQCLMLTLRRDIVFSQALAGLVCGFIIKLHTSLHDPGFLQQLHTVGLIVQYEGLLSTYSDEIGMLEDMAVGISDLRKVAFKITEATSNDVLPVLTGRREHYVVEVKLPATVFESLPLQIKEGQLLHVYPVLFNVGINEQQTLAERFGDVSLQESINQENFELVQEYYSIFMEKMPPDYISHFQEQNDLKGLLDNLHQNIQAKKRKNVEIMWLAATICRKLNGIRFTCCKSAKDRTSMSVTLEQCSILRDEHQLHKDFFIRALDCMRREGCRIENVLKNIKCRRYAFNMLQLMAFPKCYRPPEGTYGKADT", "length": 928 }, "evidence": [ { "id": "45927350", "url": 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"UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "pmid": "" }, { "name": "phosphatidylinositol biosynthetic process", "id": "GO:0006661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006661", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "pmid": "" }, { "name": "phosphatidylinositol dephosphorylation", "id": "GO:0046856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046856", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "pmid": "" }, { "name": "inositol phosphate metabolic process", "id": "GO:0043647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043647", "evidence": [ { "database": "UniProtKB", "id": "O15327", "url": "https://www.uniprot.org/uniprot/O15327" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "17193", "name": "", "equation": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q62784-1", "Q9QWG5-1", "O15327-1", "Q96PE3-1", "Q6P1Y8-1", "Q9EPW0-1" ], "evidence": [ { "id": "17193", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17193" } ] }, { "id": "43388", "name": "", "equation": "1D-myo-inositol 3,4-bisphosphate + H2O = 1D-myo-inositol 3-phosphate + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q62784-1", "Q9QWG5-1", "O15327-1", "Q96PE3-1", "Q6P1Y8-1", "Q9EPW0-1" ], "evidence": [ { "id": "43388", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43388" } ] }, { "id": "43392", "name": "", "equation": "1D-myo-inositol 1,3,4-trisphosphate + H2O = 1D-myo-inositol 1,3-bisphosphate + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q62784-1", "Q9QWG5-1", "O15327-1", "Q96PE3-1", "Q6P1Y8-1", "Q9EPW0-1" ], "evidence": [ { "id": "43392", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43392" } ] }, { "id": "R-HSA-1676162", "name": "PI(3,4)P2 is dephosphorylated to PI3P by INPP4A/B at the early endosome membrane", "equation": "", "summary": "At the early endosome membrane, type I (INPP4A) (Norris et al. 1995, Ivetac et al. 2005) and type II inositol-3,4-bisphosphate 4-phosphatase (INPP4B) (Norris et al. 1997) colocalise with early and recycling endosomes through their C2 domains which bind to the phosphatidylinositol 3,4-bisphosphate (PI(3,4)P2) present in these membranes. It is here that phosphatidylinositol 3,4-bisphosphate (PI(3,4)P2) is dephosphorylated by INPP4A/B to phosphatidylinositol 3-phosphate (PI3P).", "cellular_location": "cytosol, early endosome membrane", "input_participant_list": [ "R-ALL-1806238" ], "output_participant_list": [], "enzyme_list": [ "O15327-1", "Q96PE3-1" ], "evidence": [ { "id": "R-HSA-1676162", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1676162" } ] }, { "id": "R-HSA-1676164", "name": "PI(3,4)P2 is dephosphorylated to PI3P by INPP4A/B at the plasma membrane", "equation": "", "summary": "At the plasma membrane, type I and type II inositol-3,4-bisphosphate 4-phosphatase (INPP4A) (Norris et al. 1995, Ivetac et al. 2005) and (INPP4B) (Norris et al. 1997) dephosphorylate phosphatidylinositol 3,4-bisphosphate (PI(3,4)P2) to phosphatidylinositol 3-phosphate (PI3P).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15327-1", "Q96PE3-1" ], "evidence": [ { "id": "R-HSA-1676164", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1676164" } ] }, { "id": "R-HSA-1855180", "name": "I(1,3,4)P3 is dephosphorylated to I(1,3)P2 by INPP4A/B in the cytosol", "equation": "", "summary": "Type I (INPP4A) and type II inositol-3,4-bisphosphate 4-phosphatase (INPP4B) dephosphorylate inositol 1,3,4-trisphosphate (I(1,3,4)P3) to inositol 1,3-bisphosphate (I(1,3)P2) (Norris et al. 1995, Norris et al. 1997).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-ALL-1629769" ], "enzyme_list": [ "O15327-1", "Q96PE3-1" ], "evidence": [ { "id": "R-HSA-1855180", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855180" } ] }, { "id": "R-HSA-1855202", "name": "I(3,4)P2 is dephosphorylated to I3P by INPP4A/B in the cytosol", "equation": "", "summary": "Type I (INPP4A) and type II inositol-3,4-bisphosphate 4-phosphatase 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