{ "uniprot_canonical_ac": "O95237-1", "uniprot_ac": "O95237", "uniprot_id": "LRAT_HUMAN", "mass": { "chemical_mass": 25703.0, "monoisotopic_mass": 25703.0 }, "refseq": { "ac": "NP_001288574", "name": "lecithin retinol acyltransferase precursor", "summary": "The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288574" }, "gene_names": [ { "name": "LRAT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95237", "id": "O95237" }, { "name": "LCA14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288574", "id": "NP_001288574" }, { "name": "LRAT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288574", "id": "NP_001288574" } ], "protein_names": [ { "name": "Lecithin retinol acyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95237" }, { "name": "2.3.1.135", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95237" }, { "name": "Phosphatidylcholine--retinol O-acyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95237" }, { "name": "lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288574", "id": "NP_001288574" }, { "name": "lecithin retinol acyltransferase precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288574", "id": "NP_001288574" } ], "function": [ { "annotation": "Results provide evidence that multiple LRAT mRNA transcripts, which are expressed in a tissue-specific manner, may result from differential splicing of the 5'UTR region and the use of multiple polyadenylation signals in the 3'UTR.", "evidence": [ { "database": "RefSeq", "id": "NP_001288574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288574" }, { "database": "PubMed", "id": "15474300", "url": "https://glygen.org/publication/PubMed/15474300" } ] }, { "annotation": "The phenotype of patients with mutations in LRAT is similar to that of patients with mutations in RPE65, suggesting the need to systematically screen both genes in case of typical phenotype.", "evidence": [ { "database": "RefSeq", "id": "NP_001288574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288574" }, { "database": "PubMed", "id": "17011878", "url": "https://glygen.org/publication/PubMed/17011878" } ] }, { "annotation": "The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001288574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288574" } ] }, { "annotation": "Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments (Probable). Required for the survival of cone photoreceptors and correct rod photoreceptor cell morphology (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237#function" }, { "database": "PubMed", "id": "9920938", "url": "https://glygen.org/publication/PubMed/9920938" }, { "database": "UniProtKB", "id": "Q9JI60", "url": "https://www.uniprot.org/uniprot/Q9JI60#function" } ] } ], "disease": [ { "disease_id": "DOID:0110188", "recommended_name": { "id": "DOID:0110188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110188", "name": "Leber congenital amaurosis 14", "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31." }, "synonyms": [ { "id": "DOID:0110188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110188", "name": "LCA14", "description": "" }, { "id": "MONDO:0013231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013231", "name": "Leber congenital amaurosis 14", "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene." }, { "id": "MONDO:0013231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013231", "name": "LCA14", "description": "" }, { "id": "MONDO:0013231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013231", "name": "LRAT Leber congenital amaurosis", "description": "" }, { "id": "MONDO:0013231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013231", "name": "Leber congenital amaurosis 14", "description": "" }, { "id": "MONDO:0013231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013231", "name": "Leber congenital amaurosis caused by mutation in LRAT", "description": "" }, { "id": "MONDO:0013231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013231", "name": "Leber congenital amaurosis type 14", "description": "" }, { "id": "MONDO:0013231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013231", "name": "retinal dystrophy, early-onset severe", "description": "" }, { "id": "MONDO:0013231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013231", "name": "retinal dystrophy, early-onset Severe, LRAT-related", "description": "" }, { "id": "MONDO:0013231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013231", "name": "retinitis pigmentosa, juvenile", "description": "" }, { "id": "MONDO:0013231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013231", "name": "retinitis pigmentosa, juvenile, LRAT-related", "description": "" }, { "id": "MIM:613341", "resource": "MIM", "url": "https://www.omim.org/entry/613341", "name": "Leber congenital amaurosis 14", "description": "Leber congenital amaurosis 14" } ], "evidence": [ { "id": "613341", "database": "MIM", "url": "https://www.omim.org/entry/613341" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 161, "end_pos": 161, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" }, { "database": "PubMed", "id": "10819989", "url": "https://glygen.org/publication/PubMed/10819989" } ] }, { "start_pos": 161, "end_pos": 161, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" }, { "database": "PubMed", "id": "10819989", "url": "https://glygen.org/publication/PubMed/10819989" } ] }, { "start_pos": 168, "end_pos": 168, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" }, { "database": "PubMed", "id": "10819989", "url": "https://glygen.org/publication/PubMed/10819989" } ] }, { "start_pos": 168, "end_pos": 168, "sequence_org": "C", "sequence_mut": "S", "comment": "Does not affect activity.", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" }, { "database": "PubMed", "id": "10819989", "url": "https://glygen.org/publication/PubMed/10819989" } ] }, { "start_pos": 182, "end_pos": 182, "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect activity.", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" }, { "database": "PubMed", "id": "10819989", "url": "https://glygen.org/publication/PubMed/10819989" } ] }, { "start_pos": 208, "end_pos": 208, "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect activity.", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" }, { "database": "PubMed", "id": "10819989", "url": "https://glygen.org/publication/PubMed/10819989" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "55.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "50.74", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "59.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "60.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "52.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "69.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "63.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "68.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "59.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121207" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95237" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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, 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"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 - 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"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", 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"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", 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}, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95237" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95237" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95237" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95237" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95237" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95237" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95237" } ], "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": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95237" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", 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}, { "id": "NP_001288574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288574", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "17469", "url": "https://www.rhea-db.org/rhea/17469", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "43904", "url": "https://www.rhea-db.org/rhea/43904", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "55320", "url": "https://www.rhea-db.org/rhea/55320", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "56240", "url": "https://www.rhea-db.org/rhea/56240", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "56244", "url": "https://www.rhea-db.org/rhea/56244", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "56248", "url": "https://www.rhea-db.org/rhea/56248", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "D6RC94", "url": "https://www.uniprot.org/uniprot/D6RC94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RC94-1", "url": "https://www.uniprot.org/uniprot/D6RC94-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95237-1", "url": "https://www.uniprot.org/uniprot/O95237-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLALTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNNCEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG", "length": 230, "header": "sp|O95237-1|LRAT_HUMAN Isoform 1 of Lecithin retinol acyltransferase OS=Homo sapiens OX=9606 GN=LRAT PE=1 SV=2 CANONICAL=O95237-1" }, "isoforms": [ { "isoform_ac": "D6RC94-1", "url": "", "sequence": { "sequence": "MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNR", "length": 69, "header": "tr|D6RC94-1|D6RC94_HUMAN Computationally mapped isoform of Lecithin retinol acyltransferase OS=Homo sapiens OX=9606 GN=LRAT PE=1 SV=1 CANONICAL=O95237-1" }, "locus": { "chromosome": "4", "start_pos": 154744533, "end_pos": 154744327, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000502525.5", "url": "https://www.ensembl.org/id/ENST00000502525.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422324.1", "url": "https://www.ensembl.org/id/ENSP00000422324.1" } ] } }, { "isoform_ac": "O95237-1", "url": "", "sequence": { "sequence": "MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLALTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNNCEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG", "length": 230, "header": "sp|O95237-1|LRAT_HUMAN Isoform 1 of Lecithin retinol acyltransferase OS=Homo sapiens OX=9606 GN=LRAT PE=1 SV=2 CANONICAL=O95237-1" }, "locus": { "chromosome": "4", "start_pos": 154749133, "end_pos": 154744327, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507827.5", "url": "https://www.ensembl.org/id/ENST00000507827.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426761.1", "url": "https://www.ensembl.org/id/ENSP00000426761.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP.", "journal": "Biochemistry", "date": "1999", "authors": "Naylor HM, Newcomer ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "10052934", "url": "https://glygen.org/publication/PubMed/10052934" } ] }, { "title": "Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sun H, Molday RS, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10075733", "url": "https://glygen.org/publication/PubMed/10075733" } ] }, { "title": "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.", "journal": "Nature genetics", "date": "1999", "authors": "Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "10369264", "url": "https://glygen.org/publication/PubMed/10369264" } ] }, { "title": "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.", "journal": "Molecular vision", "date": "1999", "authors": "Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10617778", "url": "https://glygen.org/publication/PubMed/10617778" } ] }, { "title": "Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Rattner A, Smallwood PM, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10753906", "url": "https://glygen.org/publication/PubMed/10753906" } ] }, { "title": "Hydrolysis of retinyl esters by pancreatic triglyceride lipase.", "journal": "Biochemistry", "date": "2000", "authors": "van Bennekum AM, Fisher EA, Blaner WS, Harrison EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "10769148", "url": "https://glygen.org/publication/PubMed/10769148" } ] }, { "title": "Lecithin retinol acyltransferase contains cysteine residues essential for catalysis.", "journal": "Biochemistry", "date": "2000", "authors": "Mondal MS, Ruiz A, Bok D, Rando RR", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" } ], "reference": [ { "type": "PubMed", "id": "10819989", "url": "https://glygen.org/publication/PubMed/10819989" } ] }, { "title": "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.", "journal": "Investigative ophthalmology & visual science", "date": "2000", "authors": "Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11053295", "url": "https://glygen.org/publication/PubMed/11053295" } ] }, { "title": "Rapid initial removal of chylomicron remnants by the mouse liver does not require hepatically localized apolipoprotein E.", "journal": "Journal of lipid research", "date": "2000", "authors": "Yu KC, Jiang Y, Chen W, Cooper AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11060341", "url": "https://glygen.org/publication/PubMed/11060341" } ] }, { "title": "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.", "journal": "American journal of ophthalmology", "date": "2000", "authors": "Kuroiwa S, Kikuchi T, Yoshimura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11078852", "url": "https://glygen.org/publication/PubMed/11078852" } ] }, { "title": "The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase.", "journal": "Biochemistry", "date": "2000", "authors": "Biswas EE, Biswas SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "11123914", "url": "https://glygen.org/publication/PubMed/11123914" } ] }, { "title": "Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.", "journal": "Visual neuroscience", "date": "2000", "authors": "Cideciyan AV, Haeseleer F, Fariss RN, Aleman TS, Jang GF, Verlinde CLMJ, Marmor MF, Jacobson SG, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11153648", "url": "https://glygen.org/publication/PubMed/11153648" } ] }, { "title": "Retinyl ester secretion by intestinal cells: a specific and regulated process dependent on assembly and secretion of chylomicrons.", "journal": "Journal of lipid research", "date": "2001", "authors": "Nayak N, Harrison EH, Hussain MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11181758", "url": "https://glygen.org/publication/PubMed/11181758" } ] }, { "title": "Identification, retinoid binding, and x-ray analysis of a human retinol-binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Folli C, Calderone V, Ottonello S, Bolchi A, Zanotti G, Stoppini M, Berni R", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11274389", "url": "https://glygen.org/publication/PubMed/11274389" } ] }, { "title": "Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.", "journal": "Nature genetics", "date": "2001", "authors": "Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" }, { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11381255", "url": "https://glygen.org/publication/PubMed/11381255" } ] }, { "title": "The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes.", "journal": "Human molecular genetics", "date": "2002", "authors": "Jagla WM, Jagle H, Hayashi T, Sharpe LT, Deeb SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11772996", "url": "https://glygen.org/publication/PubMed/11772996" } ] }, { "title": "Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kedishvili NY, Chumakova OV, Chetyrkin SV, Belyaeva OV, Lapshina EA, Lin DW, Matsumura M, Nelson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], 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"https://glygen.org/publication/PubMed/14946611" } ] }, { "title": "Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.", "journal": "Nature genetics", "date": "2004", "authors": "Janecke AR, Thompson DA, Utermann G, Becker C, Hubner CA, Schmid E, McHenry CL, Nair AR, Ruschendorf F, Heckenlively J, Wissinger B, Nurnberg P, Gal A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "15258582", "url": "https://glygen.org/publication/PubMed/15258582" } ] }, { "title": "Retinosomes: new insights into intracellular managing of hydrophobic substances in lipid bodies.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Imanishi Y, Gerke V, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], 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"" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "O95237", "url": "https://www.uniprot.org/uniprot/O95237" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 21, "end_pos": 23, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "17469", "name": "", "equation": "a 1,2-diacyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = a 2-acyl-sn-glycero-3-phosphocholine + an all-trans-retinyl ester + apo--[retinol-binding protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9JI61-1", "O95237-1", "Q9JI60-1" ], "evidence": [ { "id": "17469", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17469" } ] }, { "id": "43904", "name": "", "equation": "1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + all-trans-retinol = all-trans-retinyl hexadecanoate + hexadecanoyl-sn-glycero-3-phosphocholine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9JI61-1", "O95237-1", "Q9JI60-1" ], "evidence": [ { "id": "43904", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43904" } ] }, { "id": "55320", "name": "", "equation": "1,2-diheptanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-heptanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl heptanoate + apo--[retinol-binding protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9JI61-1", "O95237-1", "Q9JI60-1" ], "evidence": [ { "id": "55320", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55320" } ] }, { "id": "56240", "name": "", "equation": "1,2-dioctanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-octanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl octanoate + apo--[retinol-binding protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9JI61-1", "O95237-1", "Q9JI60-1" ], "evidence": [ { "id": "56240", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/56240" } ] }, { "id": "56244", "name": "", "equation": "1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-hexadecanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl hexadecanoate + apo--[retinol-binding protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9JI61-1", "O95237-1", "Q9JI60-1" ], "evidence": [ { "id": "56244", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/56244" } ] }, { "id": "56248", "name": "", "equation": "1,2-didodecanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-dodecanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl dodecanoate + apo--[retinol-binding protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9JI61-1", "O95237-1", "Q9JI60-1" ], "evidence": [ { "id": "56248", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/56248" } ] }, { "id": "R-HSA-2404137", "name": "LRAT esterifies RBP1:atROL and FACYLs to atREs", "equation": "", "summary": "All-trans-retinyl esters (atREs) are the main storage form of retinol in hepatic stellate cells (HSCs). Lecithin retinol acyltransferase (LRAT) mediates the esterification of all-trans-retinol (atROL) with a variety of fatty acyl groups (FACYLs) to form REs which are stored in lipid droplets in the cytosol. Cellular retinol-binding protein 1 (RBP1) is an effective donor of atROL for LRAT (Ruiz et al. 1999).", "cellular_location": "cytosol, endoplasmic reticulum membrane, lipid droplet, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95237-1" ], "evidence": [ { "id": "R-HSA-2404137", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2404137" } ] }, { "id": "R-HSA-2453855", "name": "LRAT esterifies RBP1:atROL and FACYLs to atREs", "equation": "", "summary": "Lecithin retinol acyltransferase (LRAT) mediates the esterification of all-trans-retinol (atROL) to form all-trans-retinyl esters (atREs). atREs are stored in lipid droplet form called retinosomes (Imanishi et al. 2004). Cellular retinol-binding protein 1 (RBP1) is an effective donor of atROL for LRAT (Ruiz et al. 1999). LRAT is an important enzyme required for the clearance of atROL as it drives the uptake of atROL from the bloodstream through the receptor STRA6 (Kawaguchi et al. 2011) and clearance of atROL from rod outer segments (ROS). In addition, the esterified form of atROL serves as substrate for RPE65.", "cellular_location": "cytosol, endoplasmic reticulum membrane, lipid droplet, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95237-1" ], "evidence": [ { "id": "R-HSA-2453855", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453855" } ] }, { "id": "R-HSA-2466710", "name": "Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs", "equation": "", "summary": "Normally functioning lecithin retinol acyltransferase (LRAT) mediates the transfer of an acyl group onto all-trans-retinol (atROL), forming retinyl esters (REs), the storage form of retinoids. Defects in LRAT cause Leber congenital amaurosis type 14 (LCA14, MIM:613341), an autosomal recessive juvenile-onset retinal dystrophy affecting rod and cone photoreceptors. Leber congenital amaurosis (LCA) comprises a group of early-onset retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction (Chung & Traboulsi 2009). Loss of function is caused by the mutants S175R, 396delAA (Thompson et al. 2001) and 217delAT (Senechal et al. 2006, den Hollander et al. 2007) (the latter two not displayed).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95237-1" ], "evidence": [ { "id": "R-HSA-2466710", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2466710" } ] }, { "id": "R-HSA-975608", "name": "LRAT esterifies RBP2:atROL and FACYLs to atREs", "equation": "", "summary": "Transfer of fatty acyl residues (FACYLs) from lecithin is the main way to esterify all-trans-retinol (atROL). Lecithin is a generic name for the yellowy-brown fatty substances in animals and tissues. It can be composed of phosphatidylcholines, phosphatidylethanolamines, and phosphatidylinositols. Fatty acyl transfer is catalyzed by Lecithin retinol acyltransferase (LRAT) and takes place near the endoplasmic reticulum membrane. The main fatty acyl moieties that are substrates for LRAT are palmitoyl, oleoyl, stearoyl and linoleoyl groups present in the A1 position of membrane phosphatidylcholine molecules. LRAT esterifies atROL with these acyl groups to form all-trans-retinyl esters (atREs). The aim is not storage but transport via chylomicrons (Ruiz et al. 1999).", "cellular_location": "cytosol, endoplasmic reticulum membrane, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95237-1" ], "evidence": [ { "id": "R-HSA-975608", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975608" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O95237", "gene_name": "LRAT", "activity": [ { "ec_number": "2.3.1.135", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = a 2-acyl-sn-glycero-3-phosphocholine + an all-trans-retinyl ester + apo--[retinol-binding protein].", "evidence": [ { "id": "O95237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95237" } ] }, { "ec_number": "2.3.1.135", "activity": "", "evidence": [ { "id": "O95237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95237" } ] } ] }, 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"activity": "", "evidence": [ { "id": "Q9JI61", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9JI61" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 21, "end_pos": 23 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": 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