{ "uniprot_canonical_ac": "O15118-1", "uniprot_ac": "O15118", "uniprot_id": "NPC1_HUMAN", "mass": { "chemical_mass": 142167.0, "monoisotopic_mass": 142167.0 }, "refseq": { "ac": "NP_000262", "name": "NPC intracellular cholesterol transporter 1 precursor", "summary": "This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262" }, "gene_names": [ { "name": "NPC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15118", "id": "O15118" }, { "name": "NPC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262", "id": "NP_000262" }, { "name": "NPC; POGZ; SLC65A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262", "id": "NP_000262" } ], "protein_names": [ { "name": "NPC intracellular cholesterol transporter 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15118" }, { "name": "NPC intracellular cholesterol transporter 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262", "id": "NP_000262" }, { "name": "Niemann-Pick C1 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262", "id": "NP_000262" }, { "name": "Niemann-Pick C1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15118" } ], "function": [ { "annotation": "(Microbial infection) Acts as an endosomal entry receptor for ebolavirus.", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118#function" }, { "database": "PubMed", "id": "21866103", "url": "https://glygen.org/publication/PubMed/21866103" }, { "database": "PubMed", "id": "25855742", "url": "https://glygen.org/publication/PubMed/25855742" }, { "database": "PubMed", "id": "32855215", "url": "https://glygen.org/publication/PubMed/32855215" } ] }, { "annotation": "A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262" }, { "database": "PubMed", "id": "37371089", "url": "https://glygen.org/publication/PubMed/37371089" } ] }, { "annotation": "Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable). Inhibits cholesterol-mediated mTORC1 activation throught its interaction with SLC38A9 (PubMed:28336668).", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118#function" }, { "database": "PubMed", "id": "18772377", "url": "https://glygen.org/publication/PubMed/18772377" }, { "database": "PubMed", "id": "9211849", "url": "https://glygen.org/publication/PubMed/9211849" }, { "database": "PubMed", "id": "9927649", "url": "https://glygen.org/publication/PubMed/9927649" }, { "database": "PubMed", "id": "19563754", "url": "https://glygen.org/publication/PubMed/19563754" }, { "database": "PubMed", "id": "12554680", "url": "https://glygen.org/publication/PubMed/12554680" }, { "database": "PubMed", "id": "27238017", "url": "https://glygen.org/publication/PubMed/27238017" }, { "database": "PubMed", "id": "28336668", "url": "https://glygen.org/publication/PubMed/28336668" }, { "database": "PubMed", "id": "10821832", "url": "https://glygen.org/publication/PubMed/10821832" }, { "database": "PubMed", "id": "28784760", "url": "https://glygen.org/publication/PubMed/28784760" } ] }, { "annotation": "NPC1 plays a role in the trafficking of specific cargo to melanosomes.", "evidence": [ { "database": "RefSeq", "id": "NP_000262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262" }, { "database": "PubMed", "id": "37423302", "url": "https://glygen.org/publication/PubMed/37423302" } ] }, { "annotation": "NPC1 promotes autophagy with tumor promotion and acts as a prognostic model for hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_000262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262" }, { "database": "PubMed", "id": "38042211", "url": "https://glygen.org/publication/PubMed/38042211" } ] }, { "annotation": "NPC1-dependent alterations in KV2.1-CaV1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262" }, { "database": "PubMed", "id": "37507375", "url": "https://glygen.org/publication/PubMed/37507375" } ] }, { "annotation": "This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_000262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262" } ] } ], "disease": [ { "disease_id": "DOID:0070113", "recommended_name": { "id": "DOID:0070113", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070113", "name": "Niemann-Pick disease type C1", "description": "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2." }, "synonyms": [ { "id": "DOID:0070113", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070113", "name": "NPC1", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, type C1", "description": "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein." }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, type C1", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "type C1 Niemann-Pick disease", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "NPC1", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-PICK disease, type C1", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease type C1", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease with cholesterol esterification block", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease without sphingomyelinase deficiency", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, chronic neuronopathic form", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, nova Scotian type", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, subacute juvenile form", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, type C", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, type D", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "description": "" }, { "id": "MIM:257220", "resource": "MIM", "url": "https://www.omim.org/entry/257220", "name": "Niemann-Pick disease C1", "description": "Niemann-Pick disease C1" } ], "evidence": [ { "id": "0009757", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757" }, { "id": "257220", "database": "MIM", "url": "https://www.omim.org/entry/257220" } ] } ], "snv": [ { "evidence": [ { "id": "rs772622214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772622214" }, { "id": "rs772622214", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772622214" }, { "id": "rs772622214", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772622214" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1066, "end_pos": 1066, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TET->NET); n-glyco-sequon-loss (NVT->NVN).", "chr_id": "18", "chr_pos": "23536721", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1066", "disease": [ { "disease_id": "DOID:0070113", "recommended_name": { "id": "DOID:0070113", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070113", "name": "Niemann-Pick disease type C1", "description": "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2." }, "synonyms": [ { "id": "DOID:0070113", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070113", "name": "NPC1", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, type C1", "description": "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein." }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, type C1", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "type C1 Niemann-Pick disease", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "NPC1", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-PICK disease, type C1", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease type C1", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease with cholesterol esterification block", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease without sphingomyelinase deficiency", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, chronic neuronopathic form", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, nova Scotian type", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, subacute juvenile form", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, type C", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "Niemann-Pick disease, type D", "description": "" }, { "id": "MONDO:0009757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009757", "name": "neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "description": "" }, { "id": "MIM:257220", "resource": "MIM", "url": "https://www.omim.org/entry/257220", "name": "Niemann-Pick disease C1", "description": "Niemann-Pick disease C1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs747903100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747903100" }, { "id": "rs747903100", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747903100" }, { "id": "rs747903100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747903100" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1066, "end_pos": 1066, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVA).", "chr_id": "18", "chr_pos": "23536722", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1066", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1366505622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366505622" }, { "id": "rs1366505622", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366505622" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1072, "end_pos": 1072, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "18", "chr_pos": "23536703", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1072", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2058635770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058635770" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1074, "end_pos": 1074, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGC).", "chr_id": "18", "chr_pos": "23536698", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1074", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15118", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15118" }, { "id": "rs1317076046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317076046" }, { "id": "rs1317076046", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317076046" }, { "id": "rs1317076046", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1317076046#frequency_tab" }, { "id": "rs1317076046", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317076046" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1103, "end_pos": 1103, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "18", "chr_pos": "23535639", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1103", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1448273242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448273242" }, { "id": "rs1448273242", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1448273242#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 122, "end_pos": 122, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "18", "chr_pos": "23568921", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867274673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867274673" }, { "id": "rs867274673", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867274673" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 124, "end_pos": 124, "sequence_org": "T", 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No effect on subcellular location.", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" }, { "database": "PubMed", "id": "28784760", "url": "https://glygen.org/publication/PubMed/28784760" } ] }, { "start_pos": 70, "end_pos": 70, "sequence_org": "N", "sequence_mut": "Q", "comment": "Reduces glycosylation; when associated with Q-122 and Q-185. 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"https://bgee.org/?page=gene&gene_id=ENSG00000141458" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141458", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141458" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15118", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15118" } ], "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", 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"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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15118", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15118" } ], "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": 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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 in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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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": "O15118", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15118" } ], "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/O15118" } ], "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": [ { 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "common_name": "Human" } ], "gene": [ { "name": "NPC1", "url": "https://www.uniprot.org/uniprot/O15118", "locus": { "chromosome": "18", "start_pos": 23506184, "end_pos": 23586506, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000141458", "url": "https://www.ensembl.org/id/ENSG00000141458" } ] } } ], "crossref": [ { "id": "ENSG00000141458", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141458", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15118", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15118", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL1293277", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1293277", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "NPC1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPC1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4864", "url": "https://www.ncbi.nlm.nih.gov/gene/4864", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1571", "url": "https://glyconnect.expasy.org/browser/proteins/1571", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "7897", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7897", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15118", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15118*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000731", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000731", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003392", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003392", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004765", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004765", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032190", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032190", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "257220", "url": "http://www.omim.org/entry/257220", "database": "MIM", "categories": [ "Other" ] }, { "id": "607623", "url": "http://www.omim.org/entry/607623", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15118", "url": "https://www.nextprot.org/entry/NX_O15118", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15118", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15118", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WWFDVES", "url": "https://omabrowser.org/oma/group/WWFDVES/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2786103at2759", "url": "http://www.orthodb.org/?query=2786103at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45727", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45727", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45727:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45727:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3GKH", "url": "https://www.rcsb.org/structure/3GKH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GKI", "url": "https://www.rcsb.org/structure/3GKI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GKJ", "url": "https://www.rcsb.org/structure/3GKJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3JD8", "url": "https://www.rcsb.org/structure/3JD8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5F18", "url": "https://www.rcsb.org/structure/5F18", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5F1B", "url": "https://www.rcsb.org/structure/5F1B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5HNS", "url": "https://www.rcsb.org/structure/5HNS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5JNX", "url": "https://www.rcsb.org/structure/5JNX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5KWY", "url": "https://www.rcsb.org/structure/5KWY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U73", "url": "https://www.rcsb.org/structure/5U73", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U74", "url": "https://www.rcsb.org/structure/5U74", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6UOX", "url": "https://www.rcsb.org/structure/6UOX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6W5R", "url": "https://www.rcsb.org/structure/6W5R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6W5S", "url": "https://www.rcsb.org/structure/6W5S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6W5T", "url": "https://www.rcsb.org/structure/6W5T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6W5U", "url": "https://www.rcsb.org/structure/6W5U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6W5V", "url": "https://www.rcsb.org/structure/6W5V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8EUS", "url": "https://www.rcsb.org/structure/8EUS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02460", "url": "http://pfam.xfam.org/family/PF02460", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12349", "url": "http://pfam.xfam.org/family/PF12349", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16414", "url": "http://pfam.xfam.org/family/PF16414", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15118", "url": "https://pharos.nih.gov/targets/O15118", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15118", "url": "http://purl.obolibrary.org/obo/PR_O15118", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000262", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "39747", "url": "https://www.rhea-db.org/rhea/39747", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "K7EIH7", "url": "https://www.uniprot.org/uniprot/K7EIH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EIH7-1", "url": "https://www.uniprot.org/uniprot/K7EIH7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENZ0", "url": "https://www.uniprot.org/uniprot/K7ENZ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENZ0-1", "url": "https://www.uniprot.org/uniprot/K7ENZ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQ23", "url": "https://www.uniprot.org/uniprot/K7EQ23", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQ23-1", "url": "https://www.uniprot.org/uniprot/K7EQ23-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERM4", "url": "https://www.uniprot.org/uniprot/K7ERM4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERM4-1", "url": "https://www.uniprot.org/uniprot/K7ERM4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERW2", "url": "https://www.uniprot.org/uniprot/K7ERW2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERW2-1", "url": "https://www.uniprot.org/uniprot/K7ERW2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15118-1", "url": "https://www.uniprot.org/uniprot/O15118-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15118-2", "url": "https://www.uniprot.org/uniprot/O15118-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCATEERYKGTERERLLNF", "length": 1278, "header": "sp|O15118-1|NPC1_HUMAN Isoform 1 of NPC intracellular cholesterol transporter 1 OS=Homo sapiens OX=9606 GN=NPC1 PE=1 SV=2 CANONICAL=O15118-1" }, "isoforms": [ { "isoform_ac": "K7EIH7-1", "url": "", "sequence": { "sequence": "VFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPFNS", "length": 59, "header": "tr|K7EIH7-1|K7EIH7_HUMAN Computationally mapped isoform of NPC intracellular cholesterol transporter 1 OS=Homo sapiens OX=9606 GN=NPC1 PE=1 SV=1 CANONICAL=O15118-1" }, "locus": { "chromosome": "18", "start_pos": 23533517, "end_pos": 23522893, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590723.5", "url": "https://www.ensembl.org/id/ENST00000590723.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464755.1", "url": "https://www.ensembl.org/id/ENSP00000464755.1" } ] } }, { "isoform_ac": "K7ENZ0-1", "url": "", "sequence": { "sequence": "XFYFRMYLAMVLLGATHGLIFLPVLLSYIDDLKVPVLQSETG", "length": 42, "header": "tr|K7ENZ0-1|NPC1_HUMAN Computationally mapped isoform of NPC intracellular cholesterol transporter 1 OS=Homo sapiens OX=9606 GN=NPC1 PE=1 SV=1 CANONICAL=O15118-1" }, "locus": { "chromosome": "18", "start_pos": 23533440, "end_pos": 23529688, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000593280.2", "url": "https://www.ensembl.org/id/ENST00000593280.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000467150.1", "url": "https://www.ensembl.org/id/ENSP00000467150.1" } ] } }, { "isoform_ac": "K7EQ23-1", "url": "", "sequence": { "sequence": "XAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGTAWLLTSTFPSSPVLPGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCATEERYKGTERERLLNF", "length": 971, "header": "tr|K7EQ23-1|NPC1_HUMAN Computationally mapped isoform of NPC intracellular cholesterol transporter 1 OS=Homo sapiens OX=9606 GN=NPC1 PE=1 SV=1 CANONICAL=O15118-1" }, "locus": { "chromosome": "18", "start_pos": 23560342, "end_pos": 23532204, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591051.1", "url": "https://www.ensembl.org/id/ENST00000591051.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467636.1", "url": "https://www.ensembl.org/id/ENSP00000467636.1" } ] } }, { "isoform_ac": "K7ERM4-1", "url": "", "sequence": { "sequence": "XVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIATSLF", "length": 175, "header": "tr|K7ERM4-1|NPC1_HUMAN Computationally mapped isoform of NPC intracellular cholesterol transporter 1 OS=Homo sapiens OX=9606 GN=NPC1 PE=1 SV=1 CANONICAL=O15118-1" }, "locus": { "chromosome": "18", "start_pos": 23535700, "end_pos": 23529339, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586150.5", "url": "https://www.ensembl.org/id/ENST00000586150.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468321.1", "url": "https://www.ensembl.org/id/ENSP00000468321.1" } ] } }, { "isoform_ac": "K7ERW2-1", "url": "", "sequence": { "sequence": "XIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIAKLLERTIYLCISQHIHYATQMAPLQCLMTASDRC", "length": 179, "header": "tr|K7ERW2-1|NPC1_HUMAN Computationally mapped isoform of NPC intracellular cholesterol transporter 1 OS=Homo sapiens OX=9606 GN=NPC1 PE=1 SV=1 CANONICAL=O15118-1" }, "locus": { "chromosome": "18", "start_pos": 23535622, "end_pos": 23506537, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591107.6", "url": "https://www.ensembl.org/id/ENST00000591107.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000468438.1", "url": "https://www.ensembl.org/id/ENSP00000468438.1" } ] } }, { "isoform_ac": "O15118-1", "url": "", "sequence": { "sequence": "MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCATEERYKGTERERLLNF", "length": 1278, "header": "sp|O15118-1|NPC1_HUMAN Isoform 1 of NPC intracellular cholesterol transporter 1 OS=Homo sapiens OX=9606 GN=NPC1 PE=1 SV=2 CANONICAL=O15118-1" }, "locus": { "chromosome": "18", "start_pos": 23586343, "end_pos": 23532205, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000269228.10", "url": "https://www.ensembl.org/id/ENST00000269228.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000269228.4", "url": "https://www.ensembl.org/id/ENSP00000269228.4" } ] } }, { "isoform_ac": "O15118-2", "url": "", "sequence": { "sequence": "MYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGTAWLLTSTFPSSPVLPGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCATEERYKGTERERLLNF", "length": 960, "header": "sp|O15118-2|NPC1_HUMAN Isoform 2 of NPC intracellular cholesterol transporter 1 OS=Homo sapiens OX=9606 GN=NPC1 PE=1 SV=2 CANONICAL=O15118-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1064, "start_aa": "Asn", "end_pos": 1064, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1064", "evidence": [ { "id": "O15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15118#ptm_processing" }, { "id": "3JD8", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3JD8" }, { "id": "5U74", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5U74" }, { "id": "27238017", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27238017" }, { "id": "28784760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28784760" }, { "id": "5JNX", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5JNX" }, { "id": "5U73", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5U73" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "reported", "site_seq": "E", "relation": "attached", "comment": "", "start_pos": 1067, "start_aa": "Glu", "end_pos": 1067, "end_aa": "Glu", "residue": "Glu", "site_lbl": "Glu1067", "evidence": [ { "id": "5U73", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5U73" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1072, "start_aa": "Asn", "end_pos": 1072, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1072", "evidence": [ { "id": "O15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15118#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "O15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15118#ptm_processing" }, { "id": "10821832", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10821832" }, { "id": "27238017", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27238017" }, { "id": "3JD8", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3JD8" }, { "id": "5JNX", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5JNX" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "evidence": [ { "id": "O15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15118#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "3JD8", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3JD8" }, { "id": "27238017", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27238017" }, { "id": "5JNX", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5JNX" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 151, "start_aa": "Ser", "end_pos": 151, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser151", "evidence": [ { "id": "O15118", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15118" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 154, "start_aa": "Asn", "end_pos": 154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn154", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine; atypical", "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "O15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15118#ptm_processing" }, { "id": "19563754", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19563754" }, { "id": "3GKJ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3GKJ" }, { "id": "3GKI", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3GKI" }, { "id": "3JD8", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3JD8" }, { "id": "27238017", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27238017" }, { "id": "5JNX", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5JNX" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G20425TQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "1571", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1571" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G46902YN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "1571", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1571" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "O15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15118#ptm_processing" }, { "id": "10821832", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10821832" }, { "id": "3JD8", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3JD8" }, { "id": "27238017", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27238017" }, { "id": "5JNX", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5JNX" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 222, "start_aa": "Asn", "end_pos": 222, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn222", "evidence": [ { "id": "1571", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1571" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 222, "start_aa": "Asn", "end_pos": 222, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn222", "evidence": [ { "id": "O15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15118#ptm_processing" }, { "id": "3GKJ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3GKJ" }, { "id": "3JD8", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3JD8" }, { "id": "19563754", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19563754" }, { "id": "27238017", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27238017" }, { "id": "3GKI", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3GKI" }, { "id": "5JNX", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5JNX" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 452, "start_aa": "Asn", "end_pos": 452, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn452", "evidence": [ { "id": "O15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15118#ptm_processing" }, { "id": "5U74", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5U74" }, { "id": "28784760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28784760" }, { "id": "5JNX", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5JNX" }, { "id": "5U73", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5U73" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 459, "start_aa": "Asn", "end_pos": 459, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn459", "evidence": [ { "id": "O15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15118#ptm_processing" }, { "id": "5U74", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5U74" }, { "id": "28784760", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28784760" }, { "id": "5JNX", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5JNX" }, { "id": "5U73", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5U73" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "reported", "site_seq": "Y", "relation": "attached", "comment": "", "start_pos": 475, "start_aa": "Tyr", "end_pos": 475, "end_aa": "Tyr", "residue": "Tyr", "site_lbl": "Tyr475", "evidence": [ { "id": "5U74", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5U74" } ] }, { "glytoucan_ac": "", "type": "N-linked", 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functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.", "journal": "American journal of human genetics", "date": "2001", "authors": "Millat G, Marcais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K, Vanier MT", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "reference": [ { "type": "PubMed", "id": "11333381", "url": "https://glygen.org/publication/PubMed/11333381" } ] }, { "title": "Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.", "journal": "American journal of human genetics", "date": "2001", "authors": "Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "reference": [ { "type": "PubMed", "id": 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M, Edwards M, Lee P, Neuwirth C, Naoumova RP, Soutar AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "12464675", "url": "https://glygen.org/publication/PubMed/12464675" } ] }, { "title": "Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.", "journal": "Human molecular genetics", "date": "2003", "authors": "Blom TS, Linder MD, Snow K, Pihko H, Hess MW, Jokitalo E, Veckman V, Syvanen AC, Ikonen E", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "reference": [ { "type": "PubMed", "id": "12554680", "url": "https://glygen.org/publication/PubMed/12554680" } ] }, { "title": "Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.", "journal": "Human mutation", 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"length": 1287 }, "evidence": [ { "id": "O15118", "url": "https://omabrowser.org/oma/group/O15118/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "virus 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"extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": 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"database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "intestinal cholesterol absorption", "id": "GO:0030299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030299", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "intracellular cholesterol transport", "id": "GO:0032367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032367", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "viral entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "cellular response to steroid hormone stimulus", "id": "GO:0071383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071383", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "negative regulation of macroautophagy", "id": "GO:0016242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016242", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "lysosomal transport", "id": "GO:0007041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007041", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprot/O15118" } ], "pmid": "" }, { "name": "cholesterol storage", "id": "GO:0010878", "url": 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