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Details on Person UniProt:P11473 VDR

Class:IdReferenceGeneProduct:67154
_chainChangeLogchain:1-427 added on Fri February 6 2015
_displayNameUniProt:P11473 VDR
_timestamp2024-11-03 20:17:22
chainchain:1-427
checksumF95F300D042C4CB7
commentFUNCTION 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).SUBUNIT Homodimer in the absence of bound vitamin D3 (PubMed:11980721). Heterodimer with RXRA after vitamin D3 binding (PubMed:10678179, PubMed:11980721, PubMed:15225774). Interacts with MED1, NCOA1, NCOA2, NCOA3 and NCOA6 coactivators, leading to a strong increase of transcription of target genes (PubMed:10866662, PubMed:15728261, PubMed:28698609, PubMed:9267036). Interacts with the corepressor NCOR1 (PubMed:28698609). Interacts with SNW1 (PubMed:9632709). Interacts with IRX4, the interaction does not affect its transactivation activity (PubMed:22323358). Interacts with CRY1 (By similarity). Interacts with CRY2 in a ligand-dependent manner (By similarity).INTERACTION 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 PRODUCTS Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.DOMAIN The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.PTM 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).POLYMORPHISM Genetic variations in VDR may determine Mycobacterium tuberculosis susceptibility [MIM:607948].DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the nuclear hormone receptor family. NR1 subfamily.CAUTION It is uncertain whether Met-1 or Met-4 is the initiator.CAUTION Was thought to be recruited to promoters via its interaction with BAZ1B/WSTF, but this work has later been retracted.SEQUENCE CAUTION Truncated N-terminus.
descriptionrecommendedName: Vitamin D3 receptor shortName: VDR alternativeName: 1,25-dihydroxyvitamin D3 receptor alternativeName: Nuclear receptor subfamily 1 group I member 1
geneNameVDR
NR1I1
identifierP11473
isSequenceChangedFALSE
keyword3D-structure
Alternative splicing
Cytoplasm
Disease variant
DNA-binding
Metal-binding
Nucleus
Proteomics identification
Receptor
Reference proteome
Transcription
Transcription regulation
Ubl conjugation
Zinc
Zinc-finger
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameVDR
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8998088] ENSEMBL:ENSG00000111424 VDR [Homo sapiens]
secondaryIdentifierVDR_HUMAN
B2R5Q1
G3V1V9
Q5PSV3
sequenceLength427
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:8972227] UniProt:P11473-1 VDR [Homo sapiens]
[ReferenceIsoform:8972228] UniProt:P11473-2 VDR [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:375512] VDR [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:4546376] polySUMO2-VDR [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9795308] VDR [cytosol] [Homo sapiens]
(referenceSequence)[GroupModifiedResidue:4546377] sumoylated lysine (polySUMO2 [nucleoplasm]) at unknown position
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