{ "uniprot_canonical_ac": "P11473-1", "uniprot_ac": "P11473", "uniprot_id": "VDR_HUMAN", "mass": { "chemical_mass": 48289.0, "monoisotopic_mass": 48289.0 }, "refseq": { "ac": "NP_000367", "name": "vitamin D3 receptor isoform VDRA", "summary": "This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000367" }, "gene_names": [ { "name": "VDR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11473", "id": "P11473" }, { "name": "NR1I1; PPP1R163", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000367", "id": "NP_000367" }, { "name": "NR1I1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11473", "id": "P11473" }, { "name": "VDR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000367", "id": "NP_000367" } ], "protein_names": [ { "name": "Vitamin D3 receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11473" }, { "name": "1,25-dihydroxyvitamin D3 receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11473" }, { "name": "Nuclear receptor subfamily 1 group I member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11473" }, { "name": "VDR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11473" }, { "name": "vitamin D3 receptor isoform VDRA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000367", "id": "NP_000367" }, { "name": "vitamin D3 receptor; vitamin D (1,25- dihydroxyvitamin D3) receptor; 1,25-dihydroxyvitamin D3 receptor; nuclear receptor subfamily 1 group I member 1; protein phosphatase 1, regulatory subunit 163", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000367", "id": "NP_000367" } ], "function": [ { "annotation": "Expression analysis of vitamin D receptor-associated long noncoding RNAs in patients with relapsing-remitting multiple sclerosis.", "evidence": [ { "database": "RefSeq", "id": "NP_000367", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000367" }, { "database": "PubMed", "id": "38219064", "url": "https://glygen.org/publication/PubMed/38219064" } ] }, { "annotation": "Long pentraxin 3 and vitamin D receptor mRNA expression pattern of cumulus granulosa cells isolated from PCOS oocytes at different stages of nuclear maturation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000367", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000367" }, { "database": "PubMed", "id": "38167474", "url": "https://glygen.org/publication/PubMed/38167474" } ] }, { "annotation": "Methylation of the Vitamin D Receptor Gene in Human Disorders. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000367", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000367" }, { "database": "PubMed", "id": "38203278", "url": "https://glygen.org/publication/PubMed/38203278" } ] }, { "annotation": "Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:28698609, PubMed:16913708, PubMed:15728261, PubMed:10678179). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role in calcium homeostasis (By similarity). Also functions as a receptor for the secondary bile acid lithocholic acid (LCA) and its metabolites (PubMed:12016314, PubMed:32354638).", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473#function" }, { "database": "PubMed", "id": "28698609", "url": "https://glygen.org/publication/PubMed/28698609" }, { "database": "PubMed", "id": "15728261", "url": "https://glygen.org/publication/PubMed/15728261" }, { "database": "PubMed", "id": "16913708", "url": "https://glygen.org/publication/PubMed/16913708" }, { "database": "UniProtKB", "id": "P13053", "url": "https://www.uniprot.org/uniprot/P13053#function" }, { "database": "PubMed", "id": "12016314", "url": "https://glygen.org/publication/PubMed/12016314" }, { "database": "PubMed", "id": "32354638", "url": "https://glygen.org/publication/PubMed/32354638" }, { "database": "PubMed", "id": "10678179", "url": "https://glygen.org/publication/PubMed/10678179" } ] }, { "annotation": "This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018].", "evidence": [ { "database": "RefSeq", "id": "NP_000367", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000367" } ] } ], "disease": [ { "disease_id": "DOID:0080884", "recommended_name": { "id": "DOID:0080884", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080884", "name": "vitamin D-dependent rickets type 2A", "description": "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q." }, "synonyms": [ { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "vitamin D-dependent rickets, type 2A", "description": "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia." }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "VDR vitamin D-dependent rickets, type 2", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "rickets, vitamin D-resistant, type IIA", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "vitamin D dependent rickets 2a", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "vitamin D receptor deficiency rickets", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "vitamin D-dependent rickets, type 2 caused by mutation in VDR", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "vitamin D-dependent rickets, type 2A", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "vitamin d-dependent rickets type II with alopecia", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "Pddr 2A", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "Pseudovitamin D-deficiency, type 2A", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "VDDR2A", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "generalised resistance to 1,25-dihydroxyvitamin D", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "generalized resistance to 1,25-dihydroxyvitamin D", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "hypocalcemic vitamin D-resistant rickets", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "rickets, hereditary vitamin D-resistant", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "rickets-alopecia syndrome", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "vitamin D-dependent rickets, type 2A, with or without alopecia", "description": "" }, { "id": "MONDO:0010186", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010186", "name": "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol", "description": "" }, { "id": "MIM:277440", "resource": "MIM", "url": "https://www.omim.org/entry/277440", "name": "Rickets vitamin D-dependent 2A", "description": "Rickets vitamin D-dependent 2A" } ], "evidence": [ { "id": "277440", "database": "MIM", "url": "https://www.omim.org/entry/277440" } ] }, { "disease_id": "MONDO:0011940", "recommended_name": { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "mycobacterium tuberculosis, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "tuberculosis, susceptibility to", "description": "" }, { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "mycobacterium tuberculosis, susceptibility to", "description": "" }, { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "tuberculosis infection, protection against", "description": "" }, { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "tuberculosis, protection against", "description": "" }, { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "Mycobacterium tuberculosis, protection against", "description": "" }, { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "Mycobacterium tuberculosis, susceptibility to infection by", "description": "" } ], "evidence": [ { "id": "607948", "database": "MIM", "url": "https://www.omim.org/entry/607948" } ] } ], "snv": [ { "evidence": [ { "id": "P11473", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11473" } ], "glycoeffect": [], "start_pos": 158, "end_pos": 158, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "47857240", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R158", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 47, "end_pos": 48, "sequence_org": "FF", "sequence_mut": "AA", "comment": "Abolishes nuclear export.", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" }, { "database": "PubMed", "id": "12145331", "url": "https://glygen.org/publication/PubMed/12145331" } ] }, { "start_pos": 61, "end_pos": 62, "sequence_org": "PF", "sequence_mut": "AA", "comment": "Promotes heterodimerization with RXRA; when associated with A-75.", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" }, { "database": "PubMed", "id": "11980721", "url": "https://glygen.org/publication/PubMed/11980721" } ] }, { "start_pos": 75, "end_pos": 75, "sequence_org": "H", "sequence_mut": "A", "comment": "Promotes heterodimerization with RXRA; when associated with A-61 and A-62.", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" }, { "database": "PubMed", "id": "11980721", "url": "https://glygen.org/publication/PubMed/11980721" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "75.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "73.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "95.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "69.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "76.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "63.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "65.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111424" } ] } ], "expression_disease": 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"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 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"url": "https://www.uniprot.org/uniprot/P11473-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS", "length": 427, "header": "sp|P11473-1|VDR_HUMAN Isoform 1 of Vitamin D3 receptor OS=Homo sapiens OX=9606 GN=VDR PE=1 SV=1 CANONICAL=P11473-1" }, "isoforms": [ { "isoform_ac": "A0A5K1VW50-1", "url": "", "sequence": { "sequence": "MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEISXLGQPVAVPGWGCSSRATCQARGWRLLSSPPHPVWGSAPPLPPPLSTQPILSPVQPNPFPAGFSPVP", "length": 494, "header": "tr|A0A5K1VW50-1|A0A5K1VW50_HUMAN Computationally mapped isoform of Vitamin D3 receptor OS=Homo sapiens OX=9606 GN=VDR PE=1 SV=1 CANONICAL=P11473-1" }, "locus": { "chromosome": "12", "start_pos": 47879113, "end_pos": 47844548, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000229022.9", "url": "https://www.ensembl.org/id/ENST00000229022.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000229022.5", "url": "https://www.ensembl.org/id/ENSP00000229022.5" } ] } }, { "isoform_ac": "F8VPF8-1", "url": "", "sequence": { "sequence": "MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQ", "length": 101, "header": "tr|F8VPF8-1|VDR_HUMAN Computationally mapped isoform of Vitamin D3 receptor OS=Homo sapiens OX=9606 GN=VDR PE=1 SV=1 CANONICAL=P11473-1" }, "locus": { "chromosome": "12", "start_pos": 47879113, "end_pos": 47857663, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548664.1", "url": "https://www.ensembl.org/id/ENST00000548664.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450105.1", "url": "https://www.ensembl.org/id/ENSP00000450105.1" } ] } }, { "isoform_ac": "F8VRJ4-1", "url": "", "sequence": { "sequence": "MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPG", "length": 250, "header": "tr|F8VRJ4-1|VDR_HUMAN Computationally mapped isoform of Vitamin D3 receptor OS=Homo sapiens OX=9606 GN=VDR PE=1 SV=1 CANONICAL=P11473-1" }, "locus": { "chromosome": "12", "start_pos": 47879113, "end_pos": 47855635, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546653.5", "url": "https://www.ensembl.org/id/ENST00000546653.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448659.1", "url": "https://www.ensembl.org/id/ENSP00000448659.1" } ] } }, { "isoform_ac": "F8VVY8-1", "url": "", "sequence": { "sequence": "MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREM", "length": 106, "header": "tr|F8VVY8-1|F8VVY8_HUMAN Computationally mapped isoform of Vitamin D receptor OS=Homo sapiens OX=9606 GN=VDR PE=1 SV=1 CANONICAL=P11473-1" }, "locus": { "chromosome": "12", "start_pos": 47879113, "end_pos": 47857648, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550314.5", "url": "https://www.ensembl.org/id/ENST00000550314.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449561.1", "url": "https://www.ensembl.org/id/ENSP00000449561.1" } ] } }, { "isoform_ac": "F8VXQ9-1", "url": "", "sequence": { "sequence": "MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFR", "length": 49, "header": "tr|F8VXQ9-1|F8VXQ9_HUMAN Computationally mapped isoform of Vitamin D receptor OS=Homo sapiens OX=9606 GN=VDR PE=1 SV=1 CANONICAL=P11473-1" }, "locus": {} }, { "isoform_ac": "P11473-1", "url": "", "sequence": { "sequence": "MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS", "length": 427, "header": "sp|P11473-1|VDR_HUMAN Isoform 1 of Vitamin D3 receptor OS=Homo sapiens OX=9606 GN=VDR PE=1 SV=1 CANONICAL=P11473-1" }, "locus": { "chromosome": "12", "start_pos": 47879113, "end_pos": 47844749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395324.6", "url": "https://www.ensembl.org/id/ENST00000395324.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000378734.2", "url": "https://www.ensembl.org/id/ENSP00000378734.2" } ] } }, { "isoform_ac": "P11473-2", "url": "", "sequence": { "sequence": "MEWRNKKRSDWLSMVLRTAGVEEAFGSEVSVRPHRRAPLGSTYLPPAPSGMEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS", "length": 477, "header": "sp|P11473-2|VDR_HUMAN Isoform 2 of Vitamin D3 receptor OS=Homo sapiens OX=9606 GN=VDR PE=1 SV=1 CANONICAL=P11473-1" }, "locus": { "chromosome": "12", "start_pos": 47904630, "end_pos": 47844749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550325.5", "url": "https://www.ensembl.org/id/ENST00000550325.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447173.1", "url": "https://www.ensembl.org/id/ENSP00000447173.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P11473", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11473" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 119, "end_pos": 119, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11473", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11473" }, { "database": "PubMed", "id": "1656468", "url": "https://glygen.org/publication/PubMed/1656468" } ], "site_lbl": "Ser119" }, { "start_pos": 125, "end_pos": 125, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11473", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11473" }, { "database": "PubMed", "id": "1656468", "url": "https://glygen.org/publication/PubMed/1656468" } ], "site_lbl": "Ser125" }, { "start_pos": 182, "end_pos": 182, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P11473", "url": "http://phospho.elm.eu.org/byAccession/P11473.html" }, { "database": "iPTMnet", "id": "P11473", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11473" }, { "database": "PubMed", "id": "15474498", "url": "https://glygen.org/publication/PubMed/15474498" } ], "site_lbl": "Ser182" }, { "start_pos": 208, "end_pos": 208, "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11473", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11473" }, { "database": "PubMed", "id": "8622969", "url": "https://glygen.org/publication/PubMed/8622969" }, { "database": "PubMed", "id": "17368182", "url": "https://glygen.org/publication/PubMed/17368182" } ], "site_lbl": "Ser208" }, { "start_pos": 208, "end_pos": 208, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P11473", "url": "http://phospho.elm.eu.org/byAccession/P11473.html" }, { "database": "iPTMnet", "id": "P11473", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11473" }, { "database": "PubMed", "id": "8384219", "url": "https://glygen.org/publication/PubMed/8384219" }, { "database": "PubMed", "id": "8622969", "url": "https://glygen.org/publication/PubMed/8622969" }, { "database": "PubMed", "id": "17368182", "url": "https://glygen.org/publication/PubMed/17368182" } ], "site_lbl": "Ser208" }, { "start_pos": 51, "end_pos": 51, "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11473", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11473" }, { "database": "PubMed", "id": "8392065", "url": "https://glygen.org/publication/PubMed/8392065" } ], "site_lbl": "Ser51" }, { "start_pos": 51, "end_pos": 51, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11473", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11473" }, { "database": "PubMed", "id": "14665442", "url": "https://glygen.org/publication/PubMed/14665442" }, { "database": "PubMed", "id": "1656468", "url": "https://glygen.org/publication/PubMed/1656468" } ], "site_lbl": "Ser51" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3.", "journal": "Cell", "date": "1999", "authors": "Nykjaer A, Dragun D, Walther D, Vorum H, Jacobsen C, Herz J, Melsen F, Christensen EI, Willnow TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "10052453", "url": "https://glygen.org/publication/PubMed/10052453" } ] }, { "title": "Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex.", "journal": "Nature", "date": "1999", "authors": "Rachez C, Lemon BD, Suldan Z, Bromleigh V, Gamble M, Naar AM, Erdjument-Bromage H, Tempst P, Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10235266", "url": "https://glygen.org/publication/PubMed/10235266" } ] }, { "title": "Enzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Sawada N, Sakaki T, Kitanaka S, Takeyama K, Kato S, Inouye K", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "10518789", "url": "https://glygen.org/publication/PubMed/10518789" } ] }, { "title": "Multimeric Coactivator Complexes for Steroid/Nuclear Receptors.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "1999", "authors": "Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10542397", "url": "https://glygen.org/publication/PubMed/10542397" } ] }, { "title": "The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand.", "journal": "Molecular cell", "date": "2000-01", "authors": "Rochel N, Wurtz J M, Mitschler A, Klaholz B, Moras D", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "10678179", "url": "https://glygen.org/publication/PubMed/10678179" } ] }, { "title": "A new family of nuclear receptor coregulators that integrates nuclear receptor signaling through CBP.", "journal": "Mol. Cell. Biol.", "date": "2000", "authors": "Mahajan MA, Samuels HH", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "10866662", "url": "https://glygen.org/publication/PubMed/10866662" } ] }, { "title": "Dual metabolic pathway of 25-hydroxyvitamin D3 catalyzed by human CYP24.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Sakaki T, Sawada N, Komai K, Shiozawa S, Yamada S, Yamamoto K, Ohyama Y, Inouye K", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11012668", "url": "https://glygen.org/publication/PubMed/11012668" } ] }, { "title": "Activation of human prolegumain by cleavage at a C-terminal asparagine residue.", "journal": "The Biochemical journal", "date": "2000", "authors": "Chen JM, Fortunato M, Barrett AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11085925", "url": "https://glygen.org/publication/PubMed/11085925" } ] }, { "title": "Covalent modification of the androgen receptor by small ubiquitin-like modifier 1 (SUMO-1).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Poukka H, Karvonen U, Janne OA, Palvimo JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "11121022", "url": "https://glygen.org/publication/PubMed/11121022" } ] }, { "title": "Double-blind, placebo-controlled, randomized, right-left study comparing calcipotriol monotherapy with a combined treatment of calcipotriol and diflucortolone valerate in chronic plaque psoriasis.", "journal": "Acta dermato-venereologica. Supplementum", "date": "2000", "authors": "Salmhofer W, Maier H, Soyer HP, Honigsmann H, Hodl S", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11234559", "url": "https://glygen.org/publication/PubMed/11234559" } ] }, { "title": "Crystal structures of the vitamin D receptor complexed to superagonist 20-epi ligands.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2001", "authors": "Tocchini-Valentini G, Rochel N, Wurtz J M, Mitschler A, Moras D", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "11344298", "url": "https://glygen.org/publication/PubMed/11344298" } ] }, { "title": "Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Nykjaer A, Fyfe JC, Kozyraki R, Leheste JR, Jacobsen C, Nielsen MS, Verroust PJ, Aminoff M, de la Chapelle A, Moestrup SK, Ray R, Gliemann J, Willnow TE, Christensen EI", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11717447", "url": "https://glygen.org/publication/PubMed/11717447" } ] }, { "title": "A structural basis for the unique binding features of the human vitamin D-binding protein.", "journal": "Nature structural biology", "date": "2002", "authors": "Verboven C, Rabijns A, De Maeyer M, Van Baelen H, Bouillon R, De Ranter C", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11799400", "url": "https://glygen.org/publication/PubMed/11799400" } ] }, { "title": "Synthesis of 1,25-dihydroxyvitamin D(3) by human endothelial cells is regulated by inflammatory cytokines: a novel autocrine determinant of vascular cell adhesion.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2002", "authors": "Zehnder D, Bland R, Chana RS, Wheeler DC, Howie AJ, Williams MC, Stewart PM, Hewison M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11856765", "url": "https://glygen.org/publication/PubMed/11856765" } ] }, { "title": "Biological roles and mechanistic actions of co-repressor complexes.", "journal": "Journal of cell science", "date": "2002", "authors": "Jepsen K, Rosenfeld MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "11865025", "url": "https://glygen.org/publication/PubMed/11865025" } ] }, { "title": "Structural basis of VDR-DNA interactions on direct repeat response elements.", "journal": "The EMBO journal", "date": "2002", "authors": "Shaffer PL, Gewirth DT", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "11980721", "url": "https://glygen.org/publication/PubMed/11980721" } ] }, { "title": "Vitamin D receptor as an intestinal bile acid sensor.", "journal": "Science (New York, N.Y.)", "date": "2002-05-17", "authors": "Makishima Makoto, Lu Timothy T, Xie Wen, Whitfield G Kerr, Domoto Hideharu, Evans Ronald M, Haussler Mark R, Mangelsdorf David J", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "12016314", "url": "https://glygen.org/publication/PubMed/12016314" } ] }, { "title": "PIAS proteins modulate transcription factors by functioning as SUMO-1 ligases.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Kotaja N, Karvonen U, Janne OA, Palvimo JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "12077349", "url": "https://glygen.org/publication/PubMed/12077349" } ] }, { "title": "Small ubiquitin-related modifier-1 (SUMO-1) modification of the glucocorticoid receptor.", "journal": "The Biochemical journal", 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the vitamin D receptor deoxyribonucleic acid-binding domain.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1994", "authors": "Malloy PJ, Weisman Y, Feldman D", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "8106618", "url": "https://glygen.org/publication/PubMed/8106618" } ] }, { "title": "A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1993", "authors": "Yagi H, Ozono K, Miyake H, Nagashima K, Kuroume T, Pike JW", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "8381803", "url": "https://glygen.org/publication/PubMed/8381803" } ] }, { "title": "Phosphorylation of serine 208 in the human vitamin D receptor. The predominant amino acid phosphorylated by casein kinase II, in vitro, and identification as a significant phosphorylation site in intact cells.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Jurutka PW, Hsieh JC, MacDonald PN, Terpening CM, Haussler CA, Haussler MR, Whitfield GK", "evidence": [ { "database": "iPTMnet", "id": "P11473", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11473" } ], "reference": [ { "type": "PubMed", "id": "8384219", "url": "https://glygen.org/publication/PubMed/8384219" } ] }, { "title": "Phosphorylation of the human vitamin D receptor by protein kinase C. Biochemical and functional evaluation of the serine 51 recognition site.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Hsieh JC, Jurutka PW, Nakajima S, Galligan MA, Haussler CA, Shimizu Y, Shimizu N, Whitfield GK, Haussler MR", "evidence": [ { "database": "iPTMnet", "id": "P11473", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11473" } ], "reference": [ { "type": "PubMed", "id": "8392065", "url": "https://glygen.org/publication/PubMed/8392065" } ] }, { "title": "Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.", "journal": "The Journal of clinical investigation", "date": "1993", "authors": "Kristjansson K, Rut AR, Hewison M, O'Riordan JL, Hughes MR", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "8392085", "url": "https://glygen.org/publication/PubMed/8392085" } ] }, { "title": "Isolation and expression of human 1,25-dihydroxyvitamin D3 24-hydroxylase cDNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Chen KS, Prahl JM, DeLuca HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "8506296", "url": "https://glygen.org/publication/PubMed/8506296" } ] }, { "title": "Human vitamin D receptor phosphorylation by casein kinase II at Ser-208 potentiates transcriptional activation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Jurutka PW, Hsieh JC, Nakajima S, Haussler CA, Whitfield GK, Haussler MR", "evidence": [ { "database": "iPTMnet", "id": "P11473-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11473-1" } ], "reference": [ { "type": "PubMed", "id": "8622969", "url": "https://glygen.org/publication/PubMed/8622969" } ] }, { "title": "A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1996", "authors": "Lin NU, Malloy PJ, Sakati N, al-Ashwal A, Feldman D", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "8675579", "url": "https://glygen.org/publication/PubMed/8675579" } ] }, { "title": "Human 25-hydroxyvitamin D3-24-hydroxylase, a multicatalytic enzyme.", "journal": "Biochemistry", "date": "1996", "authors": "Beckman MJ, Tadikonda P, Werner E, Prahl J, Yamada S, DeLuca HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "8679605", "url": "https://glygen.org/publication/PubMed/8679605" } ] }, { "title": "Cloning and sequencing of human gp330, a Ca(2+)-binding receptor with potential intracellular signaling properties.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Hjalm G, Murray E, Crumley G, Harazim W, Lundgren S, Onyango I, Ek B, Larsson M, Juhlin C, Hellman P, Davis H, Akerstrom G, Rask L, Morse B", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "8706697", "url": "https://glygen.org/publication/PubMed/8706697" } ] }, { "title": "Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1996", "authors": "Whitfield GK, Selznick SH, Haussler CA, Hsieh JC, Galligan MA, Jurutka PW, Thompson PD, Lee SM, Zerwekh JE, Haussler MR", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "8961271", "url": "https://glygen.org/publication/PubMed/8961271" } ] }, { "title": "Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Malloy PJ, Eccleshall TR, Gross C, Van Maldergem L, Bouillon R, Feldman D", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "9005998", "url": "https://glygen.org/publication/PubMed/9005998" } ] }, { "title": "Structural organization of the human vitamin D receptor chromosomal gene and its promoter.", "journal": "Mol. Endocrinol.", "date": "1997", "authors": "Miyamoto K, Kesterson R A, Yamamoto H, Taketani Y, Nishiwaki E, Tatsumi S, Inoue Y, Morita K, Takeda E, Pike J W", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "9212063", "url": "https://glygen.org/publication/PubMed/9212063" } ] }, { "title": "Nuclear receptor coactivator ACTR is a novel histone acetyltransferase and forms a multimeric activation complex with P/CAF and CBP/p300.", "journal": "Cell", "date": "1997", "authors": "Chen H, Lin R J, Schiltz R L, Chakravarti D, Nash A, Nagy L, Privalsky M L, Nakatani Y, Evans R M", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "9267036", "url": "https://glygen.org/publication/PubMed/9267036" } ] }, { "title": "Isolation and characterization of a novel coactivator protein, NCoA-62, involved in vitamin D-mediated transcription.", "journal": "J. 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Chem.", "date": "1998", "authors": "Baudino TA, Kraichely DM, Jefcoat SC Jr, Winchester SK, Partridge NC, MacDonald PN", "evidence": [ { "database": "UniProtKB", "id": "P11473", "url": "https://www.uniprot.org/uniprot/P11473" } ], "reference": [ { "type": "PubMed", "id": "9632709", "url": "https://glygen.org/publication/PubMed/9632709" } ] }, { "title": "The TRAP220 component of a thyroid hormone receptor- associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Yuan CX, Ito M, Fondell JD, Fu ZY, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "9653119", "url": "https://glygen.org/publication/PubMed/9653119" } ] }, { "title": "Autocatalytic activation of human legumain 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