VDR Peptide - N-Terminal Region Blocking Peptide

This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in 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. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]

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: Nuclear receptor; DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 12q13.11

Cellular Component: nucleoplasm; nucleus; receptor complex

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; cell morphogenesis; positive regulation of apoptosis involved in mammary gland involution; negative regulation of transcription from RNA polymerase II promoter; decidualization; signal transduction; intestinal absorption; cellular calcium ion homeostasis; negative regulation of cell proliferation; calcium ion transport; positive regulation of transcription from RNA polymerase II promoter; steroid hormone mediated signaling; gene expression; negative regulation of transcription, DNA-dependent; skeletal development; positive regulation of keratinocyte differentiation

Disease: Vitamin D-dependent Rickets, Type 2a; Osteoporosis