VDR: Nuclear hormone receptor. Transcription factor that mediates the action of vitamin D3 by controlling the expression of hormone sensitive genes. Regulates transcription of hormone sensitive genes via its association with the WINAC complex, a chromatin-remodeling complex. Recruited to promoters via its interaction with the WINAC complex subunit BAZ1B/WSTF, which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis. Defects in VDR are the cause of rickets vitamin D- dependent type 2A (VDDR2A). A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets. Belongs to the nuclear hormone receptor family. NR1 subfamily.
Protein type: DNA-binding; Nuclear receptor; Transcription factor
Cellular Component: nucleoplasm; heterochromatin; euchromatin; nuclear matrix; dense fibrillar component; intracellular membrane-bound organelle; perinuclear region of cytoplasm; cell; T-tubule; nuclear heterochromatin; caveola; cytosol; nucleus; receptor complex
Molecular Function: retinoid X receptor binding; vitamin D binding; ligand-dependent nuclear receptor activity; protein binding; DNA binding; zinc ion binding; sequence-specific DNA binding; steroid hormone receptor activity; vitamin D3 receptor activity; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; lactation; intracellular receptor-mediated signaling pathway; transcription, DNA-dependent; heart development; multicellular organismal development; cell morphogenesis; positive regulation of apoptosis involved in mammary gland involution; regulation of calcium ion transport; negative regulation of transcription from RNA polymerase II promoter; decidualization; response to estradiol stimulus; intestinal absorption; cellular calcium ion homeostasis; regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation; organ morphogenesis; regulation of transcription, DNA-dependent; calcium ion transport; steroid hormone mediated signaling; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; response to calcium ion; skeletal development; positive regulation of keratinocyte differentiation; aging
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