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Description for Protein VDR

vitamin D (1,25- dihydroxyvitamin D3) receptor
56 total interacting proteins; 23 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the 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. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ZnF_C4: c4 zinc finger in nuclear hormone receptors
  • HOLI: Ligand binding domain of hormone receptors
  • NES: Nuclear Export Signal
  • NLS: Nuclear localization signal
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08539
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    NR1I1; Vitamin D3 receptor
    Approved Symbol:
    VDR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • (1R,3R)-5-[(2E)-3-{(1S,3R)-2,2,3-trimethyl-3-[6,6,6-trifluoro-5-hydroxy-5-(trifluoromethyl)hex-3-yn-1-yl]cyclopentyl}prop-2-en-1-ylidene]cyclohexane-1,3-diol(db);
  • 1,3-CYCLOHEXANEDIOL, 4-METHYLENE-5-[(2E)-[(1S,3AS,7AS)-OCTAHYDRO-1-(5-HYDROXY-5-METHYL-1,3-HEXADIYNYL)-7A-METHYL-4H-INDEN-4-YLIDENE]ETHYLIDENE]-, (1R,3S,5Z)(db);
  • 19-nor-14-epi-23-yne-1,25 dihydroxyvitamin D3(db);
  • 1alpha,25-Dihydroxyl-20-Epi-22-Oxa-24,26,27-Trihomovitamin D3(db);
  • 5-{2-[1-(1-METHYL-PROPYL)-7A-METHYL-OCTAHYDRO-INDEN-4-YLIDENE]-ETHYLIDENE}-2-METHYLENE-CYCLOHEXANE-1,3-DIOL(db);
  • Alfacalcidol(db);
  • Calcidiol(db);
  • Calcipotriol(db);
  • Calcitriol(db);
  • Cholecalciferol(db);
  • Dihydrotachysterol(db);
  • Ergocalciferol(db);
  • Paricalcitol(db);
  • Seocalcitol(db)

    Associated Genetic Diseases:

  • Vitamin D-dependent rickets, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03463 Entrez Gene ID: 7421 OMIM ID: 601769 Swissprot Accession: P11473;