LMPD Database

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LMP001123

UniProt Annotations

Entry Information
Gene Namevitamin D (1,25- dihydroxyvitamin D3) receptor
Protein EntryVDR_HUMAN
UniProt IDP11473
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11473-1; Sequence=Displayed; Name=2; IsoId=P11473-2; Sequence=VSP_047218; Note=No experimental confirmation available.;
CautionIt is uncertain whether Met-1 or Met-4 is the initiator.
DiseaseRickets vitamin D-dependent 2A (VDDR2A) [MIM
DomainComposed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
FunctionNuclear 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. {ECO
InteractionQ09472:EP300; NbExp=3; IntAct=EBI-286357, EBI-447295; Q9JLI4:Ncoa6 (xeno); NbExp=2; IntAct=EBI-286357, EBI-286271; P26045:PTPN3; NbExp=4; IntAct=EBI-286357, EBI-1047946; Q13573:SNW1; NbExp=5; IntAct=EBI-286357, EBI-632715; P04637:TP53; NbExp=6; IntAct=EBI-286357, EBI-366083;
PolymorphismGenetic variations in VDR may determine Mycobacterium tuberculosis susceptibility [MIM
Sequence CautionSequence=AAH60832.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=AAP88938.1; Type=Erroneous gene model prediction; Evidence= ;
SimilarityBelongs to the nuclear hormone receptor family. NR1 subfamily.
SimilarityContains 1 nuclear receptor DNA-binding domain.
Subcellular LocationNucleus.
SubunitHomodimer 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. Interacts with IRX4, the interaction doesn't affect its transactivation activity. {ECO
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/vdr/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=VDR";