VDR phospho S208
Domain
Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Function
Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:10678179, PubMed:15728261, PubMed:16913708, PubMed:28698609, PubMed:37478846). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role in calcium homeostasis (By similarity). Also functions as a receptor for the secondary bile acid lithocholic acid (LCA) and its metabolites (PubMed:12016314, PubMed:32354638).
Involvement in disease
Rickets vitamin D-dependent 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated by UBR5, leading to its degradation: UBR5 specifically recognizes and binds ligand-bound VDR when it is not associated with coactivators (NCOAs) (PubMed:37478846). In presence of NCOAs, the UBR5-degron is not accessible, preventing its ubiquitination and degradation (PubMed:37478846).
Sequence Similarities
Belongs to the nuclear hormone receptor family. NR1 subfamily.
Cellular localization
- Nucleus
- Cytoplasm
- Localizes mainly to the nucleus (PubMed:12145331, PubMed:28698609). Translocated into the nucleus via both ligand-dependent and ligand-independent pathways; ligand-independent nuclear translocation is mediated by IPO4 (PubMed:16207705).
Alternative names
NR1I1, VDR, Vitamin D3 receptor, Nuclear receptor subfamily 1 group I member 1
Database links
Other research areas
- Epigenetics