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: Nuclear receptor; Transcription factor; DNA binding protein
Molecular Function: retinoid X receptor binding; protein binding; DNA binding; zinc ion binding; sequence-specific DNA binding; steroid hormone receptor activity; vitamin D3 receptor activity; transcription factor activity
Biological Process: lactation; transcription initiation from RNA polymerase II promoter; positive regulation of apoptosis involved in mammary gland involution; cell morphogenesis; negative regulation of transcription from RNA polymerase II promoter; decidualization; signal transduction; intestinal absorption; cellular calcium ion homeostasis; negative regulation of cell proliferation; organ morphogenesis; calcium ion transport; positive regulation of transcription from RNA polymerase II promoter; gene expression; steroid hormone mediated signaling; negative regulation of transcription, DNA-dependent; skeletal development; positive regulation of keratinocyte differentiation
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.