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VDR - vitamin D (1,25- dihydroxyvitamin D3) receptor
Entrez Gene Name: vitamin D (1,25- dihydroxyvitamin D3) receptor
Entrez GeneID: Human(7421)
, Mouse(22337), Rat(24873)
, Mouse(22337), Rat(24873) Synonyms: NR1I1, VD3R, VDR, VITAMIN D RECEPTOR
Gene Summary
- Human (7421): 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 different proteins. [provided by RefSeq]
- Rat (24873): binds vitamin D3; acts as a transcriptional regulator of the osteocalcin gene [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
aging, calcium ion transport, cellular calcium ion homeostasis, decidualization, gene expression, induction of apoptosis by extracellular signals, induction of apoptosis by hormones, intestinal absorption, lactation, mammary gland branching involved in pregnancy, multicellular organismal development, negative regulation of cell proliferation, negative regulation of transcription from RNA polymerase II promoter, negative regulation of transcription, DNA-dependent, organ morphogenesis, positive regulation of apoptosis involved in mammary gland involution, positive regulation of calcium ion transport via voltage-gated calcium channel activity, positive regulation of vitamin D 24-hydroxylase activity, regulation of calcidiol 1-monooxygenase activity, regulation of transcription from RNA polymerase II promoter, regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor, regulation of transcription, DNA-dependent, response to calcium ion, response to estradiol stimulus, signal transduction, skeletal system development, transcription, DNA-dependent, vitamin D receptor signaling pathway
Cellular Components
cytosol, microsome, nuclear chromosome, nuclear heterochromatin, nucleoplasm, nucleus, T-tubule
Literature References
- 10037600Yanagisawa J, Yanagi Y, Masuhiro Y, Suzawa M, Watanabe M, Kashiwagi K, Toriyabe T, Kawabata M, Miyazono K, Kato S. Convergence of transforming growth factor-beta and vitamin D signaling pathways on SMAD transcriptional coactivators.Science 1999 Feb 26;283(5406):1317-21
- 19054766Dhawan P, Weider R, Christakos S. CCAAT Enhancer-binding Protein {alpha} Is a Molecular Target of 1,25-Dihydroxyvitamin D3 in MCF-7 Breast Cancer Cells.J Biol Chem 2009 Jan 30;284(5):3086-95
- 16252006Fujiki R, Kim MS, Sasaki Y, Yoshimura K, Kitagawa H, Kato S. Ligand-induced transrepression by VDR through association of WSTF with acetylated histones.EMBO J 2005 11 16;24(22):3881-94
Molecular Functions
DNA binding, ligand-dependent nuclear receptor activity, metal ion binding, protein binding, receptor activity, retinoid X receptor binding, sequence-specific DNA binding, sequence-specific DNA binding transcription factor activity, steroid hormone receptor activity, vitamin D binding, vitamin D response element binding, vitamin D3 receptor activity, zinc ion binding
Protein Domains
A-box, A/B region, AF-2 transcription activation domain, alpha helix, dimerization domain, DNA binding, DNA binding domain, DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers, H helix, hinge domain, hormone binding domain, ligand-binding domain, ligand-dependent nuclear receptor, loop domain, nuclear receptor ligand binding domain, protein binding, retinoid X receptor binding, T-box domain, transcription factor, VDR ligand binding domain, vitamin D binding, vitamin D binding domain, vitamin D3 receptor, zinc finger DNA binding domain, zinc finger domain
Subcellular Locations
caveolae, cell membrane leading edge, cell surface, chromosomes, Cytoplasm, cytosol, cytosolic fraction, microsome, nuclear chromatin, nuclear foci, nuclear fraction, nucleoplasm, Nucleus, Plasma Membrane, transverse tubules