VDR, Vitamin D3 receptor
Also Known as
VDR_HUMAN, VDR, NR1I1
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. Homodimer in the absence of bound vitamin D3. Heterodimer with RXRA after vitamin D3 binding. Interacts with SMAD3. Interacts with MED1, NCOA1, NCOA2, NCOA3 and NCOA6 coactivators, leading to a strong increase of transcription of target genes. Interacts (in a ligand-dependent manner) with BAZ1B/WSTF. Interacts with SNW1.
|CRYSTAL STRUCTURE OF THE HUMAN VITAMIN D RECEPTOR LIGAND BINDING DOMAIN COMPLEXED WITH 1ALPHA,25-DIHYDROXY-2ALPHA-[2-(2H-TETRAZOL-2- YL)ETHYL]VITAMIN D3 (PDB: 4ITE)
Variants and Isoforms
VDR is targeted by Approved Drugs Calcitriol, Cholecalciferol, Calcifediol, Calcipotriene, Ergocalciferol, Paricalcitol, Doxercalciferol. (see details)
UniProt: VDR is active in the following subcellular-locations: Nucleus.
GO terms: VDR is active in the following subcellular-locations: nucleoplasm.
Mutations in Cancer
|Please click the link to see mutations reported in Cancer Gene Census|
|Please click the link to see mutations reported in ICGC|
|According to the Cosmic, VDR has 1 reported mutations in cell lines ....p.R274C (1)|
The mutation data was obtained from the Sanger Institute Catalogue Of Somatic Mutations In Cancer web site, http://www.sanger.ac.uk/cosmic
Bamford et al (2004) The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. Br J Cancer, 91,355-358.
|Please click the link to see mutations reported in MoKCa|
Gene Copy Number Variation
VDR has an absolute copy number > 7 in 4 cell lines, the highest copy numbers are in cell lines : RH18, CHAGOK1, NCIH2342, NCIH295. (see details)
In the NCI - NCI 60 Reference panel, the highest expressing cell lines are: HCT116, OVCAR8. (see details)
VDR was reported in the following RNAI studies:
Science - Cancer proliferation gene discovery through functional genomics, the highest RNAi cell lines are: HMECS. (see details)
AACR Journals - Results of primary druggable genome v2 (DG2) Achilles heel siRNA screen in KMS11 multiple myeloma cells, the highest RNAi cell lines are: KMS11. (see details)
Screening and Chemistry
VDR has been screened with 645 compounds (1296 bioactivities), 181 compounds have bioactivities that show binding affinity of <= 500nM (255 bioactivities). (see details)