vitamin D3 receptor; VDR; 1,25-dihydroxyvitamin D3 receptor; nuclear receptor subfamily 1 group I member 1 (VDR, NR1I1)

Function

• nuclear hormone receptor
• transcription factor
• mediates action of vitamin D3 by controlling expression of hormone sensitive genes
• binds to DNA (via enhancer element VDRE) as heterodimer with RXR
• cytoplasmic anchoring associated with hsp90
• role in Ca+2 homeostasis
• interacts with SMAD3
• interacts with MED1, NCOA1, NCOA2, NCOA3 & NCOA6 coactivators, increasing transcription of target genes

Structure

• homodimer in the absence of bound vitamin D3.
• heterodimer with RXRA after vitamin D3 binding
• composed of three domains:
  • modulating N-terminal domain
  • DNA-binding domain
  • C-terminal steroid-binding domain
• belongs to the nuclear hormone receptor family, NR1 subfamily
• contains 1 nuclear receptor DNA-binding domain

Compartment

nucleus

Pathology

• defects in VDR are the cause of rickets type 2A

Polymorphism

• genetic variations in VDR may determine Mycobacterium tuberculosis susceptibility
• polymorphisms of VDR may influence individual susceptibility to developing actinic keratosis
• polymorphisms in VDR may increase risk of cutaneous melanoma
• polymorphisms in VDR may be associated with increased susceptibility to hip fracture & myocardial infarction

Notes

uncertain whether Met-1 or Met-4 is the initiator

More general terms

• nuclear hormone receptor NR1 subfamily

Additional terms

• calcitriol; 1,25-dihydroxycholcalciferol; 1,25-dihydroxyvitamin D3
• cholecalciferol; vitamin D3
• heat shock protein [hsp]-90
• retinoid X receptor (RXR)
• vitamin D response element (VDRE)

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7421
• OMIM: https://mirror.omim.org/entry/277440
• OMIM: https://mirror.omim.org/entry/601769
• OMIM: https://mirror.omim.org/entry/607948
• UniProt: http://www.uniprot.org/uniprot/P11473.html