{ "uniprot_canonical_ac": "O00562-1", "uniprot_ac": "O00562", "uniprot_id": "PITM1_HUMAN", "mass": { "chemical_mass": 134848.0, "monoisotopic_mass": 134848.0 }, "refseq": { "ac": "NP_001124320", "name": "membrane-associated phosphatidylinositol transfer protein 1 isoform b", "summary": "PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" }, "gene_names": [ { "name": "PITPNM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00562", "id": "O00562" }, { "name": "DRES9; NIR2; PITPNM; Rd9; RDGB; RDGB1; RDGBA; RDGBA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320", "id": "NP_001124320" }, { "name": "DRES9", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00562", "id": "O00562" }, { "name": "NIR2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00562", "id": "O00562" }, { "name": "PITPNM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320", "id": "NP_001124320" }, { "name": "PITPNM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00562", "id": "O00562" } ], "protein_names": [ { "name": "Membrane-associated phosphatidylinositol transfer protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00562" }, { "name": "Drosophila retinal degeneration B homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00562" }, { "name": "NIR-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00562" }, { "name": "PITPnm 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00562" }, { "name": "PYK2 N-terminal domain-interacting receptor 2; membrane-associated phosphatidylinositol transfer protein 1; NIR-2; PITPnm 1; drosophila retinal degeneration B homolog; retinal degeneration B alpha 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320", "id": "NP_001124320" }, { "name": "Phosphatidylinositol transfer protein, membrane-associated 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00562" }, { "name": "Pyk2 N-terminal domain-interacting receptor 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00562" }, { "name": "membrane-associated phosphatidylinositol transfer protein 1 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320", "id": "NP_001124320" } ], "function": [ { "annotation": "Attenuation of PITPNM1 Signaling Cascade Can Inhibit Breast Cancer Progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" }, { "database": "PubMed", "id": "34572478", "url": "https://glygen.org/publication/PubMed/34572478" } ] }, { "annotation": "Authors found that the phosphatidylinositol transfer protein Nir2 acts as an LTP and may replenish PI at the HCV RO by interacting with VAMP-associated proteins (VAPs), enabling continuous viral replication during chronic infection. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" }, { "database": "PubMed", "id": "31484747", "url": "https://glygen.org/publication/PubMed/31484747" } ] }, { "annotation": "Catalyzes the transfer of phosphatidylinositol (PI) between membranes (PubMed:22822086, PubMed:10531358). Binds PI, phosphatidylcholine (PC) and phosphatidic acid (PA) with the binding affinity order of PI > PA > PC (PubMed:22822086). Regulates RHOA activity, and plays a role in cytoskeleton remodeling (PubMed:11909959). Necessary for normal completion of cytokinesis (PubMed:15125835). Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus (PubMed:15723057). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus (PubMed:15545272). Required for protein export from the endoplasmic reticulum and the Golgi (PubMed:15723057). Binds calcium ions (PubMed:10022914).", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562#function" }, { "database": "PubMed", "id": "15723057", "url": "https://glygen.org/publication/PubMed/15723057" }, { "database": "PubMed", "id": "10022914", "url": "https://glygen.org/publication/PubMed/10022914" }, { "database": "PubMed", "id": "11909959", "url": "https://glygen.org/publication/PubMed/11909959" }, { "database": "PubMed", "id": "15545272", "url": "https://glygen.org/publication/PubMed/15545272" }, { "database": "PubMed", "id": "22822086", "url": "https://glygen.org/publication/PubMed/22822086" }, { "database": "PubMed", "id": "10531358", "url": "https://glygen.org/publication/PubMed/10531358" } ] }, { "annotation": "PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" } ] }, { "annotation": "Phosphatidic acid production triggers Phosphatidylinositol 4,5-Bisphosphate replenishment mediated by Nir2 and Nir3 at endoplasmic reticulum-plasma membrane junctions.", "evidence": [ { "database": "RefSeq", "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" }, { "database": "PubMed", "id": "25887399", "url": "https://glygen.org/publication/PubMed/25887399" } ] }, { "annotation": "Results suggest a feedback mechanism that replenishes PM PIP2 during receptor-induced Ca(2+) signaling via the Ca(2+) effector E-Syt1 and the PITP Nir2 at ER-PM junctions.", "evidence": [ { "database": "RefSeq", "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" }, { "database": "PubMed", "id": "24183667", "url": "https://glygen.org/publication/PubMed/24183667" } ] }, { "annotation": "Results suggest that Nir2 not only enhances EMT in vitro and breast cancer metastasis in animal models, but also contributes to breast cancer progression in human patients. Erratum:[J Cell Sci. 2019 Mar 7;132(5):. PMID: 30846603]", "evidence": [ { "database": "RefSeq", "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" }, { "database": "PubMed", "id": "25179602", "url": "https://glygen.org/publication/PubMed/25179602" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00562", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00562" }, { "id": "rs1400854334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400854334" }, { "id": "rs1400854334", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400854334" }, { "id": "rs1400854334", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1400854334#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1005, "end_pos": 1005, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DHT->NHT).", "chr_id": "11", "chr_pos": "67493833", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1005", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1409376029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409376029" }, { "id": "rs1409376029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1409376029#frequency_tab" }, { "id": "rs1409376029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1409376029" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1086, "end_pos": 1086, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "11", "chr_pos": "67493496", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1086", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775339865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775339865" }, { "id": "rs775339865", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775339865" }, { "id": "rs775339865", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775339865" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1140, "end_pos": 1140, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQT->NQT).", "chr_id": "11", "chr_pos": "67492986", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201172074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201172074" }, { "id": "rs201172074", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201172074" }, { "id": "rs201172074", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201172074" }, { "id": "rs201172074", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201172074#frequency_tab" }, { "id": "rs201172074", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201172074" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1189, "end_pos": 1189, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "11", "chr_pos": "67492201", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "K1189", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148032917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148032917" }, { "id": "rs148032917", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148032917" }, { "id": "rs148032917", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148032917" }, { "id": "rs148032917", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148032917#frequency_tab" }, { "id": "rs148032917", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148032917" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 302, "end_pos": 302, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "11", "chr_pos": "67500158", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000998", "site_lbl": "D302", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1285853327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1285853327" }, { "id": "rs1285853327", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1285853327#frequency_tab" }, { "id": "rs1285853327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1285853327" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 329, "end_pos": 329, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "11", "chr_pos": "67499991", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S329", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1591062813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1591062813" }, { "id": "rs1591062813", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1591062813" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 374, "end_pos": 374, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "11", "chr_pos": "67499773", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N374", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1333606052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333606052" }, { "id": "rs1333606052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333606052" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 47, "end_pos": 47, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "11", "chr_pos": "67502658", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs978021440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978021440" }, { "id": "rs978021440", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs978021440" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 673, "end_pos": 673, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "11", "chr_pos": "67497358", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S673", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776199107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776199107" }, { "id": "rs776199107", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776199107" }, { "id": "rs776199107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776199107" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 681, "end_pos": 681, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "11", "chr_pos": "67497335", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S681", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1427152690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427152690" }, { "id": "rs1427152690", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427152690" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 839, "end_pos": 839, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "11", "chr_pos": "67495193", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D839", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 1223, "end_pos": 1223, "sequence_org": "T", "sequence_mut": "A", "comment": "No detectable effect on phosphorylation; when associated with A-389 and A-793. Loss of threonine phosphorylation; when associated with A-287; A-389 and A-794.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ] }, { "start_pos": 287, "end_pos": 287, "sequence_org": "T", "sequence_mut": "A", "comment": "Slightly reduced phosphorylation. Strongly reduced phosphorylation; when associated with A-794 or A-389. Loss of threonine phosphorylation; when associated with A-389; A-793 and A-1222.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ] }, { "start_pos": 300, "end_pos": 300, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ] }, { "start_pos": 326, "end_pos": 326, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ] }, { "start_pos": 349, "end_pos": 353, "sequence_org": "EFFDA", "sequence_mut": "ALLAG", "comment": "Loss of interaction with VAPB.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "15545272", "url": "https://glygen.org/publication/PubMed/15545272" } ] }, { "start_pos": 382, "end_pos": 382, "sequence_org": "S", "sequence_mut": "A", "comment": "Strongly reduced phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ] }, { "start_pos": 389, "end_pos": 389, "sequence_org": "T", "sequence_mut": "A", "comment": "No detectable effect on phosphorylation; when associated with A-793 and A-1222. Strongly reduced phosphorylation; when associated with A-287. Loss of threonine phosphorylation; when associated with A-287; A-794 and A-1222.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ] }, { "start_pos": 59, "end_pos": 59, "sequence_org": "T", "sequence_mut": "A", "comment": "Prevents association with lipid droplets.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "12225667", "url": "https://glygen.org/publication/PubMed/12225667" } ] }, { "start_pos": 59, "end_pos": 59, "sequence_org": "T", "sequence_mut": "E", "comment": "Causes association with lipid droplets.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "12225667", "url": "https://glygen.org/publication/PubMed/12225667" } ] }, { "start_pos": 794, "end_pos": 794, "sequence_org": "T", "sequence_mut": "A", "comment": "No detectable effect on phosphorylation; when associated with A-389 and A-1222. Strongly reduced phosphorylation; when associated with A-287. Loss of threonine phosphorylation; when associated with A-287; A-389 and A-1222.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ] }, { "start_pos": 896, "end_pos": 896, "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "71.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "80.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "69.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "72.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110697" } ] }, { "tissue": { "name": "Prostate gland", 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"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": 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hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00562", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00562" } ], "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": 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"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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00562", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00562" } ], "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": 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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": "O00562", "url": 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"" }, { "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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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00562", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00562" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00562" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00562", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00562" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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mapped isoform of Membrane-associated phosphatidylinositol transfer protein 1 OS=Homo sapiens OX=9606 GN=PITPNM1 PE=1 SV=1 CANONICAL=O00562-1" }, "locus": { "chromosome": "11", "start_pos": 67504180, "end_pos": 67502533, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524901.1", "url": "https://www.ensembl.org/id/ENST00000524901.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000432746.1", "url": "https://www.ensembl.org/id/ENSP00000432746.1" } ] } }, { "isoform_ac": "E9PSD1-1", "url": "", "sequence": { "sequence": "MLIKEYHILLPMSLDEYQVAQLYMIQKKSREESSGEGSGVEILANRPYTDGPGGSGQYTHKVYHVGSHIPGWFRALLPKAALQVEEESWNAYPYTRTRYTCPFVEKFSIEIETYYLPDGGQQPNVFNLSGAERRQRILDTIDIVRDAVAPGEYKAEEDPRLYH", "length": 163, "header": "tr|E9PSD1-1|PITM1_HUMAN Computationally mapped isoform of Membrane-associated phosphatidylinositol transfer protein 1 OS=Homo sapiens OX=9606 GN=PITPNM1 PE=1 SV=1 CANONICAL=O00562-1" }, "locus": { "chromosome": "11", "start_pos": 67504180, 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"length": 1244, "header": "sp|O00562-1|PITM1_HUMAN Isoform 1 of Membrane-associated phosphatidylinositol transfer protein 1 OS=Homo sapiens OX=9606 GN=PITPNM1 PE=1 SV=4 CANONICAL=O00562-1" }, "locus": { "chromosome": "11", "start_pos": 67504180, "end_pos": 67492036, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356404.8", "url": "https://www.ensembl.org/id/ENST00000356404.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000348772.3", "url": "https://www.ensembl.org/id/ENSP00000348772.3" } ] } }, { "isoform_ac": "O00562-2", "url": "", "sequence": { "sequence": "MLIKEYHILLPMSLDEYQVAQLYMIQKKSREESSGEGSGVEILANRPYTDGPGGSGQYTHKVYHVGSHIPGWFRALLPKAALQVEEESWNAYPYTRTRYTCPFVEKFSIEIETYYLPDGGQQPNVFNLSGAERRQRILDTIDIVRDAVAPGEYKAEEDPRLYHSVKTGRGPLSDDWARTAAQTGPLMCAYKLCKVEFRYWGMQAKIEQFIHDVGLRRVMLRAHRQAWCWQDEWTELSMADIRALEEETARMLAQRMAKCNTGSEGSEAQPPGKPSTEARSAASNTGTPDGPEAPPGPDASPDASFGKQWSSSSRSSYSSQHGGAVSPQSLSEWRMQNIARDSENSSEEEFFDAHEGFSDSEEVFPKEMTKWNSNDFIDAFASPVEAEGTPEPGAEAAKGIEDGAQAPRDSEGLDGAGELGAEACAVHALFLILHSGNILDSGPGDANSKQADVQTLSSAFEAVTRIHFPEALGHVALRLVPCPPICAAAYALVSNLSPYSHDGDSLSRSQDHIPLAALPLLATSSSRYQGAVATVIARTNQAYSAFLRSPEGAGFCGQVALIGDGVGGILGFDALCHSANAGTGSRGSSRRGSMNNELLSPEFGPVRDPLADGVEGLGRGSPEPSALPPQRIPSDMASPEPEGSQNSLQAAPATTSSWEPRRASTAFCPPAASSEAPDGPSSTARLDFKVSGFFLFGSPLGLVLALRKTVMPALEAQMRPACEQIYNLFHAADPCASRLEPLLAPKFQAIAPLTVPRYQKFPLGDGSSLLLADTLQTHSSLFLEELEMLVPSTPTSTSGAFWKGSELATDPPAQPAAPSTTSEVVKILERWWGTKRIDYSLYCPEALTAFPTVTLPHLFHASYWESADVVAFILRQVIEKERPQLAECEEPSIYSPAFPREKWQRKRTQVKIRNVTSNHRASDTVVCEGRPQVLSGRFMYGPLDVVTLTGEKVDVYIMTQPLSGKWIHFGTEVTNSSGRLTFPVPPERALGIGVYPVRMVVRGDHTYAECCLTVVARGTEAVVFSIDGSFTASVSIMGSDPKVRAGAVDVVRHWQDSGYLIVYVTGRPDMQKHRVVAWLSQHNFPHGVVSFCDGLTHDPLRQKAMFLQSLVQEVELNIVAGYGSPKDVAVYAALGLSPSQTYIVGRAVRKLQAQCQFLSDGYVAHLGQLEAGSHSHASSGPPRAALGKSSYGVAAPVDFLRKQSQLLRSRGPSQAEREGPGTPPTTLARGKARSISLKLDSEE", "length": 1243, "header": "sp|O00562-2|PITM1_HUMAN Isoform 2 of Membrane-associated phosphatidylinositol transfer protein 1 OS=Homo sapiens OX=9606 GN=PITPNM1 PE=1 SV=4 CANONICAL=O00562-1" }, "locus": { "chromosome": "11", "start_pos": 67504180, "end_pos": 67492036, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436757.6", "url": "https://www.ensembl.org/id/ENST00000436757.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000398787.2", "url": "https://www.ensembl.org/id/ENSP00000398787.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 664, "start_aa": "Ser", "end_pos": 664, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser664", "evidence": [ { "id": "O00562", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00562" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O00562", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00562" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 673, "start_aa": "Ser", "end_pos": 673, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser673", "evidence": [ { "id": "O00562", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00562" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O00562", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00562" } ] } ], "phosphorylation": [ { "start_pos": 1223, "end_pos": 1223, "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00562", "url": "http://phospho.elm.eu.org/byAccession/O00562.html" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ], "site_lbl": "Thr1223" }, { "start_pos": 1237, "end_pos": 1237, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" } ], "site_lbl": "Ser1237" }, { "start_pos": 173, "end_pos": 173, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser173" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" }, { "database": "phospho.ELM", "id": "O00562", "url": "http://phospho.elm.eu.org/byAccession/O00562.html" } ], "site_lbl": "Thr287" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by CDK1", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ], "site_lbl": "Thr287" }, { "start_pos": 300, "end_pos": 300, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "site_lbl": "Ser300" }, { "start_pos": 304, "end_pos": 304, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "site_lbl": "Ser304" }, { "start_pos": 319, "end_pos": 319, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "site_lbl": "Ser319" }, { "start_pos": 326, "end_pos": 326, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "site_lbl": "Ser326" }, { "start_pos": 329, "end_pos": 329, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "site_lbl": "Ser329" }, { "start_pos": 342, "end_pos": 342, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "site_lbl": "Ser342" }, { "start_pos": 345, "end_pos": 345, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "site_lbl": "Ser345" }, { "start_pos": 346, "end_pos": 346, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "site_lbl": "Ser346" }, { "start_pos": 373, "end_pos": 373, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "site_lbl": "Ser373" }, { "start_pos": 382, "end_pos": 382, "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" }, { "database": "phospho.ELM", "id": "O00562", "url": "http://phospho.elm.eu.org/byAccession/O00562.html" } ], "site_lbl": "Ser382" }, { "start_pos": 382, "end_pos": 382, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CDK1", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ], "site_lbl": "Ser382" }, { "start_pos": 389, "end_pos": 389, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00562", "url": "http://phospho.elm.eu.org/byAccession/O00562.html" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ], "site_lbl": "Thr389" }, { "start_pos": 593, "end_pos": 593, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser593" }, { "start_pos": 59, "end_pos": 59, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "12225667", "url": "https://glygen.org/publication/PubMed/12225667" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" } ], "site_lbl": "Thr59" }, { "start_pos": 600, "end_pos": 600, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser600" }, { "start_pos": 621, "end_pos": 621, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "phospho.ELM", "id": "O00562", "url": "http://phospho.elm.eu.org/byAccession/O00562.html" } ], "site_lbl": "Ser621" }, { "start_pos": 638, "end_pos": 638, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00562", "url": "http://phospho.elm.eu.org/byAccession/O00562.html" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ], "site_lbl": "Ser638" }, { "start_pos": 794, "end_pos": 794, "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00562", "url": "http://phospho.elm.eu.org/byAccession/O00562.html" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ], "site_lbl": "Thr794" }, { "start_pos": 896, "end_pos": 896, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" }, { "database": "phospho.ELM", "id": "O00562", "url": "http://phospho.elm.eu.org/byAccession/O00562.html" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Ser896" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Lev S, Hernandez J, Martinez R, Chen A, Plowman G, Schlessinger J", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "Reactome", "id": "R-HSA-1483226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483226" } ], "reference": [ { "type": "PubMed", "id": "10022914", "url": "https://glygen.org/publication/PubMed/10022914" } ] }, { "title": "Cloning and characterization of a novel human phosphatidylinositol transfer protein, rdgBbeta.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Fullwood Y, dos Santos M, Hsuan JJ", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "reference": [ { "type": "PubMed", "id": "10531358", "url": "https://glygen.org/publication/PubMed/10531358" } ] }, { "title": "Nir2, a novel regulator of cell morphogenesis.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Tian D, Litvak V, Toledo-Rodriguez M, Carmon S, Lev S", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "reference": [ { "type": "PubMed", "id": "11909959", "url": "https://glygen.org/publication/PubMed/11909959" } ] }, { "title": "Targeting of Nir2 to lipid droplets is regulated by a specific threonine residue within its PI-transfer domain.", "journal": "Current biology : CB", "date": "2002", "authors": "Litvak V, Shaul YD, Shulewitz M, Amarilio R, Carmon S, Lev S", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" } ], "reference": [ { "type": "PubMed", "id": "12225667", "url": "https://glygen.org/publication/PubMed/12225667" } ] }, { "title": "Mitotic phosphorylation of the peripheral Golgi protein Nir2 by Cdk1 provides a docking mechanism for Plk1 and affects cytokinesis completion.", "journal": "Molecular cell", "date": "2004", "authors": "Litvak V, Argov R, Dahan N, Ramachandran S, Amarilio R, Shainskaya A, Lev S", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" } ], "reference": [ { "type": "PubMed", "id": "15125835", "url": "https://glygen.org/publication/PubMed/15125835" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O00562-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Differential regulation of endoplasmic reticulum structure through VAP-Nir protein interaction.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Amarilio R, Ramachandran S, Sabanay H, Lev S", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "reference": [ { "type": "PubMed", "id": "15545272", "url": "https://glygen.org/publication/PubMed/15545272" } ] }, { "title": "Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3.", "journal": "Cytogenet. Genome Res.", "date": "2005", "authors": "Ocaka L, Spalluto C, Wilson DI, Hunt DM, Halford S", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "reference": [ { "type": "PubMed", "id": "15627748", "url": "https://glygen.org/publication/PubMed/15627748" } ] }, { "title": "Maintenance of the diacylglycerol level in the Golgi apparatus by the Nir2 protein is critical for Golgi secretory function.", "journal": "Nature cell biology", "date": "2005-03", "authors": "Litvak Vladimir, Dahan Nili, Ramachandran Sreekumar, Sabanay Helena, Lev Sima", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "reference": [ { "type": "PubMed", "id": "15723057", "url": "https://glygen.org/publication/PubMed/15723057" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O00562-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.", "journal": "European journal of human genetics : EJHG", "date": "2007", "authors": "Kohn L, Kadzhaev K, Burstedt MS, Haraldsson S, Hallberg B, Sandgren O, Golovleva I", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483226" } ], "reference": [ { "type": "PubMed", "id": "17377520", "url": "https://glygen.org/publication/PubMed/17377520" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "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": "O00562-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1) binds and transfers phosphatidic acid.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Garner K, Hunt AN, Koster G, Somerharju P, Groves E, Li M, Raghu P, Holic R, Cockcroft S", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "reference": [ { "type": "PubMed", "id": "22822086", "url": "https://glygen.org/publication/PubMed/22822086" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Feedback regulation of receptor-induced Ca2+ signaling mediated by E-Syt1 and Nir2 at endoplasmic reticulum-plasma membrane junctions.", "journal": "Cell reports", "date": "2013", "authors": "Chang CL, Hsieh TS, Yang TT, Rothberg KG, Azizoglu DB, Volk E, Liao JC, Liou J", "evidence": [ { "database": "RefSeq", "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" } ], "reference": [ { "type": "PubMed", "id": "24183667", "url": "https://glygen.org/publication/PubMed/24183667" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" }, { "database": "iPTMnet", "id": "O00562", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00562" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "The lipid-transfer protein Nir2 enhances epithelial-mesenchymal transition and facilitates breast cancer metastasis.", "journal": "Journal of cell science", "date": "2014", "authors": "Keinan O, Kedan A, Gavert N, Selitrennik M, Kim S, Karn T, Becker S, Lev S", "evidence": [ { "database": "RefSeq", "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" } ], "reference": [ { "type": "PubMed", "id": "25179602", "url": "https://glygen.org/publication/PubMed/25179602" } ] }, { "title": "Phosphatidylinositol 4,5-Bisphosphate Homeostasis Regulated by Nir2 and Nir3 Proteins at Endoplasmic Reticulum-Plasma Membrane Junctions.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Chang CL, Liou J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483226" }, { "database": "RefSeq", "id": "NP_001124320", 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Hepatitis C Virus Replication and Phosphatidylinositol 4-Phosphate Enrichment at the Viral Replication Organelle.", "journal": "Journal of virology", "date": "2019", "authors": "Wang H, Tai AW", "evidence": [ { "database": "RefSeq", "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" } ], "reference": [ { "type": "PubMed", "id": "31484747", "url": "https://glygen.org/publication/PubMed/31484747" } ] }, { "title": "Attenuation of PITPNM1 Signaling Cascade Can Inhibit Breast Cancer Progression.", "journal": "Biomolecules", "date": "2021", "authors": "Liu Z, Shi Y, Lin Q, Yang W, Luo Q, Cen Y, Li J, Fang X, Jiang WG, Gong C", "evidence": [ { "database": "RefSeq", "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320" } ], "reference": [ { "type": "PubMed", "id": "34572478", "url": "https://glygen.org/publication/PubMed/34572478" } ] }, { "title": "Participation of the microsomal CDP-diglycerides in the mitochondrial biosynthesis of phosphatidylglycerol.", "journal": "Biochemistry and cell biology = Biochimie et biologie cellulaire", "date": "1986", "authors": "Stuhne-Sekalec L, Chudzik J, Stanacev NZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483226" } ], "reference": [ { "type": "PubMed", "id": "3718705", "url": "https://glygen.org/publication/PubMed/3718705" } ] }, { "title": "The role of CDP-diacylglycerol synthetase and phosphatidylinositol synthase activity levels in the regulation of cellular phosphatidylinositol content.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Lykidis A, Jackson PD, Rock CO, Jackowski S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483226" } ], "reference": [ { "type": "PubMed", "id": "9407135", "url": "https://glygen.org/publication/PubMed/9407135" } ] }, { "title": "A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms.", "journal": "Genes Funct.", "date": "1997", "authors": "Rubboli F, Bulfone A, Bogni S, Marchitiello A, Zollo M, Borsani G, Ballabio A, Banfi S", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "reference": [ { "type": "PubMed", "id": "9680295", "url": "https://glygen.org/publication/PubMed/9680295" } ] } ], "pathway": [ { "id": "hsa:9600", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9600", "resource": "KEGG Pathway" }, { "id": "R-HSA-1483226", "name": "Synthesis of PI", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483226", "resource": "Reactome", "description": "Synthesis of PI" } ], "orthologs": [ { "uniprot_canonical_ac": "O35954-1", "protein_name": "Membrane-associated phosphatidylinositol transfer protein 1", "gene_name": "Pitpnm1", "tax_id": 10090, "organism": "Mus 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[ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "pmid": "" }, { "name": "phosphatidylinositol biosynthetic process", "id": "GO:0006661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006661", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "pmid": "" }, { "name": "phosphatidylcholine binding", "id": "GO:0031210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "evidence": [ { "database": "UniProtKB", "id": "O00562", "url": "https://www.uniprot.org/uniprot/O00562" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": 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