InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: VDR

Summary

InnateDB Protein

IDBP-585679.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

VDR

Protein Name

vitamin D (1,25- dihydroxyvitamin D3) receptor

Synonyms

NR1I1; PPP1R163;

Species

Homo sapiens

Ensembl Protein

ENSP00000449573

InnateDB Gene

IDBG-29237 (VDR)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:10678179, ECO:0000269PubMed:15728261, ECO:0000269PubMed:16252006, ECO:0000269PubMed:16913708}.

Subcellular Localization

Nucleus.

Disease Associations

Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]: A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets. {ECO:0000269PubMed:1652893, ECO:0000269PubMed:2177843, ECO:0000269PubMed:2849209, ECO:0000269PubMed:7828346, ECO:0000269PubMed:8106618, ECO:0000269PubMed:8381803, ECO:0000269PubMed:8392085, ECO:0000269PubMed:8675579, ECO:0000269PubMed:8961271, ECO:0000269PubMed:9005998}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 184 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Experimentally validated
Total	184 [view]
Protein-Protein	156 [view]
Protein-DNA	26 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003707	steroid hormone receptor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0008434	vitamin D3 receptor activity
GO:0038186	lithocholic acid receptor activity
GO:0043565	sequence-specific DNA binding
GO:0046965	retinoid X receptor binding
GO:0070644	vitamin D response element binding
GO:1902098	calcitriol binding
GO:1902121	lithocholic acid binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0000902	cell morphogenesis
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0007165	signal transduction
GO:0008285	negative regulation of cell proliferation
GO:0010467	gene expression
GO:0010628	positive regulation of gene expression
GO:0010839	negative regulation of keratinocyte proliferation
GO:0010980	positive regulation of vitamin D 24-hydroxylase activity
GO:0038183	bile acid signaling pathway
GO:0043401	steroid hormone mediated signaling pathway
GO:0045087	innate immune response (InnateDB)
GO:0045618	positive regulation of keratinocyte differentiation
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0046697	decidualization
GO:0060558	regulation of calcidiol 1-monooxygenase activity
GO:0070561	vitamin D receptor signaling pathway

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR000324 Vitamin D receptor
IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001628 Zinc finger, nuclear hormone receptor-type
IPR001723 Steroid hormone receptor
IPR008946 Nuclear hormone receptor, ligand-binding

PFAM

PF00104
PF00105

PRINTS

PR00350
PR00047
PR00398

PIRSF

SMART

SM00430
SM00399

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt