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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. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Nuclear receptor; Transcription factor
Chromosomal Location of Human Ortholog: 7q36
Cellular Component: caveola; cytosol; dense fibrillar component; euchromatin; heterochromatin; intracellular membrane-bound organelle; nuclear heterochromatin; nuclear matrix; nucleoplasm; nucleus; perinuclear region of cytoplasm; receptor complex; T-tubule
Molecular Function: DNA binding; ligand-dependent nuclear receptor activity; protein binding; retinoid X receptor binding; sequence-specific DNA binding; transcription factor activity; vitamin D binding; vitamin D3 receptor activity
Biological Process: aging; calcium ion transport; cell morphogenesis; cellular calcium ion homeostasis; decidualization; heart development; intestinal absorption; lactation; 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 keratinocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; regulation of calcium ion transport; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; response to calcium ion; response to estradiol stimulus; skeletal development
Reference #:  P13053 (UniProtKB)
Alt. Names/Synonyms: 1,25-dihydroxyvitamin D3 receptor; Nr1i1; Nuclear receptor subfamily 1 group I member 1; VDR; vitamin D (1,25- dihydroxyvitamin D3) receptor; vitamin D (1,25-dihydroxyvitamin D3) receptor; Vitamin D (125-dihydroxyvitamin D3) receptor; vitamin D receptor; Vitamin D3 receptor
Gene Symbols: Vdr
Molecular weight: 47,814 Da
Basal Isoelectric point: 5.88  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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