VDR

Functionⁱ

Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells. Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR. The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes. Recruited to promoters via its interaction with BAZ1B/WSTF which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis.5 Publications

Caution

It is uncertain whether Met-1 or Met-4 is the initiator.Curated

Sites

Feature key	Position(s)	DescriptionActions	Length
Binding siteⁱ	143	Vitamin D3	1
Binding siteⁱ	305	Vitamin D3	1
Binding siteⁱ	397	Vitamin D3	1

Regions

Feature key	Position(s)	DescriptionActions	Length
DNA bindingⁱ	21 – 96	Nuclear receptorPROSITE-ProRule annotationAdd BLAST	76
Zinc fingerⁱ	24 – 44	NR C4-typePROSITE-ProRule annotationAdd BLAST	21
Zinc fingerⁱ	60 – 84	NR C4-typePROSITE-ProRule annotationAdd BLAST	25

GO - Molecular functionⁱ

calcitriol binding
Source: UniProtKB
Inferred from direct assayⁱ
- 10678179
- 12016314
calcitriol receptor activity
Source: UniProtKB
Inferred from direct assayⁱ
- 12016314
- 17082781
DNA binding
Source: MGI
Inferred from direct assayⁱ
- 11891224
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
lithocholic acid binding
Source: UniProtKB
Inferred from direct assayⁱ
- 12016314
lithocholic acid receptor activity
Source: UniProtKB
Inferred from direct assayⁱ
- 12016314
nuclear receptor transcription coactivator activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
retinoid X receptor binding
Source: UniProtKB
Inferred from direct assayⁱ
- 28698609
RNA polymerase II regulatory region sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
signaling receptor activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
steroid hormone receptor activity Source: InterPro
transcription factor binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
transcription regulatory region sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
vitamin D binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
zinc ion binding Source: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

animal organ morphogenesis
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
bile acid signaling pathway
Source: UniProtKB
Inferred from direct assayⁱ
- 12016314
calcium ion transport Source: Ensembl
cell differentiation
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
cell morphogenesis
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17223341
cellular calcium ion homeostasis Source: Ensembl
decidualization
Source: BHF-UCL
Inferred from expression patternⁱ
- 16720713
intestinal absorption Source: Ensembl
lactation Source: Ensembl
mammary gland branching involved in pregnancy Source: Ensembl
multicellular organism development
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
negative regulation of cell proliferation
Source: BHF-UCL
Inferred from direct assayⁱ
- 16549446
negative regulation of keratinocyte proliferation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17223341
negative regulation of transcription, DNA-templated
Source: MGI
Inferred from direct assayⁱ
- 11891224
negative regulation of transcription by RNA polymerase II
Source: BHF-UCL
Inferred from direct assayⁱ
- 17426122
positive regulation of apoptotic process involved in mammary gland involution Source: Ensembl
positive regulation of gene expression
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17223341
positive regulation of keratinocyte differentiation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17082781
positive regulation of transcription by RNA polymerase II
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17082781
- 17254542
positive regulation of vitamin D 24-hydroxylase activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 16549446
regulation of calcidiol 1-monooxygenase activity Source: BHF-UCL
signal transduction
Source: ProtInc
Traceable author statementⁱ
- 2849209
skeletal system development Source: Ensembl
transcription initiation from RNA polymerase II promoter Source: Reactome
vitamin D metabolic process Source: Reactome
vitamin D receptor signaling pathway
Source: BHF-UCL
Inferred from direct assayⁱ
- 16549446

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding, Receptor
Biological process	Transcription, Transcription regulation
Ligand	Metal-binding, Zinc

Enzyme and pathway databases

Reactomeⁱ	R-HSA-196791 Vitamin D (calciferol) metabolism R-HSA-383280 Nuclear Receptor transcription pathway R-HSA-4090294 SUMOylation of intracellular receptors
SignaLinkⁱ	P11473
SIGNORⁱ	P11473

Protein family/group databases

MoonDBⁱ	P11473 Predicted
TCDBⁱ	9.B.208.1.1 the vitamin d3 receptor (vdr) family

Chemistry databases

SwissLipidsⁱ	SLP:000001571

SwissLipidsⁱ

SLP:000001571

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Vitamin D3 receptor Short name: VDR Alternative name(s): 1,25-dihydroxyvitamin D3 receptor Nuclear receptor subfamily 1 group I member 1
Gene namesⁱ	Name:VDR Synonyms:NR1I1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 12

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000111424.10
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:12679 VDR
MIMⁱ	601769 gene
neXtProtⁱ	NX_P11473

Keywords - Cellular componentⁱ

Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Rickets vitamin D-dependent 2A (VDDR2A)12 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	61 – 62	PF → AA: Promotes heterodimerization with RXRA; when associated with A-75. 1 Publication		2
Mutagenesisⁱ	75	H → A: Promotes heterodimerization with RXRA; when associated with A-61 and A-62. 1 Publication		1

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	7421
MalaCards human disease database More...MalaCardsⁱ	VDR
MIMⁱ	277440 phenotype 607948 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000111424
Orphanetⁱ	93160 Hypocalcemic vitamin D-resistant rickets
PharmGKBⁱ	PA37301

Chemistry databases

ChEMBLⁱ	CHEMBL1977
Drug and drug target database More...DrugBankⁱ	DB01436 Alfacalcidol DB00146 Calcidiol DB02300 Calcipotriol DB00136 Calcitriol DB00169 Cholecalciferol DB05024 CTA018 DB01070 Dihydrotachysterol DB06410 Doxercalciferol DB05295 Eldecalcitol DB00153 Ergocalciferol DB04796 Inecalcitol DB00910 Paricalcitol DB04258 Seocalcitol
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	605

Polymorphism and mutation databases

BioMutaⁱ	VDR
DMDMⁱ	137617

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000053542	1 – 427	Vitamin D3 receptorAdd BLAST		427

Proteomic databases

EPDⁱ	P11473
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P11473
PaxDbⁱ	P11473
PeptideAtlas More...PeptideAtlasⁱ	P11473
PRIDEⁱ	P11473
ProteomicsDBⁱ	52780

PTM databases

iPTMnetⁱ	P11473
PhosphoSitePlusⁱ	P11473

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000111424 Expressed in 187 organ(s), highest expression level in tibia
CleanExⁱ	HS_VDR
ExpressionAtlasⁱ	P11473 baseline and differential
Genevisibleⁱ	P11473 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB004617 HPA047740

HPAⁱ

CAB004617
HPA047740

Interactionⁱ

Subunit structureⁱ

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 with the corepressor NCOR1. Interacts (in a ligand-dependent manner) with BAZ1B/WSTF. Interacts with SNW1. Interacts with IRX4, the interaction doesn't affect its transactivation activity.10 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
EP300	Q09472	3	EBI-286357,EBI-447295
MED1	Q15648	3	EBI-286357,EBI-394459
MEOX2	P50222	3	EBI-286357,EBI-748397
Ncoa6	Q9JLI4	2	EBI-286357,EBI-286271	From Rattus norvegicus.
PTPN3	P26045	4	EBI-286357,EBI-1047946
RXRA	P19793	6	EBI-286357,EBI-78598
Rxra	P28700	3	EBI-286357,EBI-346715	From Mus musculus.
SNW1	Q13573	5	EBI-286357,EBI-632715
SQSTM1	Q13501	4	EBI-286357,EBI-307104
TP53	P04637	6	EBI-286357,EBI-366083
TRIP13	Q15645	3	EBI-286357,EBI-358993

GO - Molecular functionⁱ

retinoid X receptor binding
Source: UniProtKB
Inferred from direct assayⁱ
- 28698609
transcription factor binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	113264, 93 interactors
ComplexPortalⁱ	CPX-631 RXRalpha-VDR nuclear hormone receptor complex CPX-871 RXRbeta-VDR nuclear hormone receptor complex
CORUMⁱ	P11473
Database of interacting proteins More...DIPⁱ	DIP-32624N
ELMⁱ	P11473
IntActⁱ	P11473, 32 interactors
Molecular INTeraction database More...MINTⁱ	P11473
STRINGⁱ	9606.ENSP00000447173

Chemistry databases

BindingDBⁱ

P11473

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Turnⁱ	25 – 27	Combined sources	3
Beta strandⁱ	33 – 35	Combined sources	3
Beta strandⁱ	38 – 40	Combined sources	3
Helixⁱ	42 – 53	Combined sources	12
Beta strandⁱ	61 – 64	Combined sources	4
Turnⁱ	70 – 75	Combined sources	6
Helixⁱ	77 – 86	Combined sources	10
Helixⁱ	91 – 93	Combined sources	3
Helixⁱ	97 – 107	Combined sources	11
Beta strandⁱ	108 – 110	Combined sources	3
Turnⁱ	111 – 113	Combined sources	3
Helixⁱ	115 – 119	Combined sources	5
Helixⁱ	126 – 142	Combined sources	17
Helixⁱ	150 – 152	Combined sources	3
Turnⁱ	162 – 164	Combined sources	3
Helixⁱ	217 – 223	Combined sources	7
Helixⁱ	227 – 247	Combined sources	21
Helixⁱ	251 – 253	Combined sources	3
Helixⁱ	256 – 274	Combined sources	19
Helixⁱ	275 – 277	Combined sources	3
Turnⁱ	281 – 284	Combined sources	4
Beta strandⁱ	285 – 287	Combined sources	3
Helixⁱ	291 – 293	Combined sources	3
Helixⁱ	297 – 301	Combined sources	5
Turnⁱ	302 – 304	Combined sources	3
Helixⁱ	307 – 321	Combined sources	15
Turnⁱ	322 – 324	Combined sources	3
Helixⁱ	327 – 338	Combined sources	12
Beta strandⁱ	341 – 343	Combined sources	3
Helixⁱ	349 – 370	Combined sources	22
Turnⁱ	373 – 378	Combined sources	6
Helixⁱ	379 – 404	Combined sources	26
Helixⁱ	410 – 413	Combined sources	4
Helixⁱ	416 – 422	Combined sources	7

Show more details

3D structure databases

Database of protein disorder More...DisProtⁱ	DP00184
ProteinModelPortalⁱ	P11473
SMRⁱ	P11473
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P11473

EvolutionaryTraceⁱ

P11473

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	127 – 423	NR LBDPROSITE-ProRule annotationAdd BLAST		297

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	97 – 126	HingeAdd BLAST	30
Regionⁱ	227 – 237	Vitamin D3 bindingAdd BLAST	11
Regionⁱ	271 – 278	Vitamin D3 binding	8

Domainⁱ

Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.

Sequence similaritiesⁱ

Belongs to the nuclear hormone receptor family. NR1 subfamily.Curated

Zinc finger

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Zinc fingerⁱ	24 – 44	NR C4-typePROSITE-ProRule annotationAdd BLAST		21
Zinc fingerⁱ	60 – 84	NR C4-typePROSITE-ProRule annotationAdd BLAST		25

Keywords - Domainⁱ

Zinc-finger

Phylogenomic databases

eggNOGⁱ	KOG3575 Eukaryota ENOG410XRZC LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00870000136372
HOGENOMⁱ	HOG000220844
HOVERGENⁱ	HBG108655
InParanoidⁱ	P11473
KEGG Orthology (KO) More...KOⁱ	K08539
OMAⁱ	FTQFRPP
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G05X3
PhylomeDBⁱ	P11473
TreeFamⁱ	TF316304

Family and domain databases

Gene3Dⁱ	3.30.50.10, 1 hit
InterProⁱ	View protein in InterPro IPR035500 NHR_like_dom_sf IPR000536 Nucl_hrmn_rcpt_lig-bd IPR001723 Nuclear_hrmn_rcpt IPR000324 VitD_rcpt IPR001628 Znf_hrmn_rcpt IPR013088 Znf_NHR/GATA
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00104 Hormone_recep, 1 hit PF00105 zf-C4, 1 hit
PRINTSⁱ	PR00398 STRDHORMONER PR00047 STROIDFINGER PR00350 VITAMINDR
SMARTⁱ	View protein in SMART SM00430 HOLI, 1 hit SM00399 ZnF_C4, 1 hit
SUPFAMⁱ	SSF48508 SSF48508, 1 hit
PROSITEⁱ	View protein in PROSITE PS51843 NR_LBD, 1 hit PS00031 NUCLEAR_REC_DBD_1, 1 hit PS51030 NUCLEAR_REC_DBD_2, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: P11473-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEAMAASTSL PDPGDFDRNV PRICGVCGDR ATGFHFNAMT CEGCKGFFRR 
        60         70         80         90        100
SMKRKALFTC PFNGDCRITK DNRRHCQACR LKRCVDIGMM KEFILTDEEV 
       110        120        130        140        150
QRKREMILKR KEEEALKDSL RPKLSEEQQR IIAILLDAHH KTYDPTYSDF 
       160        170        180        190        200
CQFRPPVRVN DGGGSHPSRP NSRHTPSFSG DSSSSCSDHC ITSSDMMDSS 
       210        220        230        240        250
SFSNLDLSEE DSDDPSVTLE LSQLSMLPHL ADLVSYSIQK VIGFAKMIPG 
       260        270        280        290        300
FRDLTSEDQI VLLKSSAIEV IMLRSNESFT MDDMSWTCGN QDYKYRVSDV 
       310        320        330        340        350
TKAGHSLELI EPLIKFQVGL KKLNLHEEEH VLLMAICIVS PDRPGVQDAA 
       360        370        380        390        400
LIEAIQDRLS NTLQTYIRCR HPPPGSHLLY AKMIQKLADL RSLNEEHSKQ 
       410        420 
YRCLSFQPEC SMKLTPLVLE VFGNEIS

Length:427

Mass (Da):48,289

Last modified:October 1, 1989 - v1

Checksum:ⁱF95F300D042C4CB7

GO

Isoform 2 (identifier: P11473-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-1: M → MEWRNKKRSDWLSMVLRTAGVEEAFGSEVSVRPHRRAPLGSTYLPPAPSGM

« Hide

        10         20         30         40         50
MEWRNKKRSD WLSMVLRTAG VEEAFGSEVS VRPHRRAPLG STYLPPAPSG 
        60         70         80         90        100
MEAMAASTSL PDPGDFDRNV PRICGVCGDR ATGFHFNAMT CEGCKGFFRR 
       110        120        130        140        150
SMKRKALFTC PFNGDCRITK DNRRHCQACR LKRCVDIGMM KEFILTDEEV 
       160        170        180        190        200
QRKREMILKR KEEEALKDSL RPKLSEEQQR IIAILLDAHH KTYDPTYSDF 
       210        220        230        240        250
CQFRPPVRVN DGGGSHPSRP NSRHTPSFSG DSSSSCSDHC ITSSDMMDSS 
       260        270        280        290        300
SFSNLDLSEE DSDDPSVTLE LSQLSMLPHL ADLVSYSIQK VIGFAKMIPG 
       310        320        330        340        350
FRDLTSEDQI VLLKSSAIEV IMLRSNESFT MDDMSWTCGN QDYKYRVSDV 
       360        370        380        390        400
TKAGHSLELI EPLIKFQVGL KKLNLHEEEH VLLMAICIVS PDRPGVQDAA 
       410        420        430        440        450
LIEAIQDRLS NTLQTYIRCR HPPPGSHLLY AKMIQKLADL RSLNEEHSKQ 
       460        470 
YRCLSFQPEC SMKLTPLVLE VFGNEIS

Note: No experimental confirmation available.

Show »

Length:477

Mass (Da):53,883

Checksum:ⁱ7E4B93646169F6A8

GO

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

F8VRJ4	F8VRJ4_HUMAN	Vitamin D3 receptor Vitamin D3 receptor	VDR	250	Annotation score:
F8VPF8	F8VPF8_HUMAN	Vitamin D3 receptor Vitamin D3 receptor	VDR	101	Annotation score:
F8VXQ9	F8VXQ9_HUMAN	Vitamin D3 receptor Vitamin D3 receptor	VDR	49	Annotation score:
F8VVY8	F8VVY8_HUMAN	Vitamin D3 receptor Vitamin D3 receptor	VDR	106	Annotation score:

Sequence cautionⁱ

The sequence AAH60832 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

The sequence AAP88938 differs from that shown. Reason: Erroneous gene model prediction.Curated

Polymorphismⁱ

Genetic variations in VDR may determine Mycobacterium tuberculosis susceptibility [MIMⁱ:607948].1 Publication

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_004656	33	G → D in VDDR2A. 1 PublicationCorresponds to variant dbSNP:rs121909790EnsemblClinVar.	1
Natural variantⁱVAR_004657	35	H → Q in VDDR2A. 1 Publication	1
Natural variantⁱVAR_004658	45	K → E in VDDR2A. 1 Publication	1
Natural variantⁱVAR_004659	46	G → D in VDDR2A. 1 PublicationCorresponds to variant dbSNP:rs121909797EnsemblClinVar.	1
Natural variantⁱVAR_004660	47	F → I in VDDR2A. 1 Publication	1
Natural variantⁱVAR_004661	50	R → Q in VDDR2A. 1 PublicationCorresponds to variant dbSNP:rs121909794EnsemblClinVar.	1
Natural variantⁱVAR_004662	73	R → Q in VDDR2A. 1 PublicationCorresponds to variant dbSNP:rs121909791EnsemblClinVar.	1
Natural variantⁱVAR_004663	80	R → Q in VDDR2A. 2 PublicationsCorresponds to variant dbSNP:rs121909793EnsemblClinVar.	1
Natural variantⁱVAR_079325	152 – 427	Missing in VDDR2A; loss of calcitriol receptor activity; loss of affinity for calcitriol; no effect on ligand-independent localization to the nucleus. 2 PublicationsCorresponds to variant dbSNP:rs121909795Add BLAST	276
Natural variantⁱVAR_029309	230	L → V1 PublicationCorresponds to variant dbSNP:rs11574090Ensembl.	1
Natural variantⁱVAR_004664	274	R → L in VDDR2A; loss of calcitriol receptor activity; decreased affinity for calcitriol by a factor of 1000; no effect on interaction with RXRA; changed interaction with NCOR1; loss of interaction with NCOA1; no effect on sequence-specific DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs121909796EnsemblClinVar.	1
Natural variantⁱVAR_004665	305	H → Q in VDDR2A; loss of calcitriol receptor activity; no effect on interaction with RXRA; changed interaction with NCOR1; loss of interaction with NCOA1; no effect on sequence-specific DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs121909798EnsemblClinVar.	1
Natural variantⁱVAR_004666	314	I → S in VDDR2A. 1 PublicationCorresponds to variant dbSNP:rs121909799EnsemblClinVar.	1
Natural variantⁱVAR_079326	346	V → M in VDDR2A; decreased calcitriol receptor activity; decreased affinity for calcitriol; decreased ligand-independent localization to the nucleus; loss of interaction with RXRA; decreased interaction with NCOR1; decreased interaction with NCOA1; decreased sequence-specific DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs267607169EnsemblClinVar.	1
Natural variantⁱVAR_079327	360	S → P in VDDR2A; loss of calcitriol receptor activity; loss of affinity for calcitriol; decreased ligand-independent localization to the nucleus; loss of interaction with RXRA; loss of interaction with NCOR1; loss of interaction with NCOA1; loss of sequence-specific DNA-binding. 1 Publication	1
Natural variantⁱVAR_029310	362	T → I1 PublicationCorresponds to variant dbSNP:rs11574115Ensembl.	1
Natural variantⁱVAR_004667	391	R → C in VDDR2A. 1 PublicationCorresponds to variant dbSNP:rs121909800EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_047218	1	M → MEWRNKKRSDWLSMVLRTAG VEEAFGSEVSVRPHRRAPLG STYLPPAPSGM in isoform 2. 1 Publication		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	J03258 mRNA Translation: AAA61273.1 X67482 mRNA Translation: CAA47824.1 AF026260 mRNA Translation: AAB95155.1 AB002168 Genomic DNA Translation: BAA83389.1 AY342401 Genomic DNA Translation: AAP88938.1 Sequence problems. AK312267 mRNA Translation: BAG35198.1 AC004466 Genomic DNA No translation available. AC121338 Genomic DNA No translation available. CH471111 Genomic DNA Translation: EAW57960.1 CH471111 Genomic DNA Translation: EAW57961.1 BC060832 mRNA Translation: AAH60832.1 Different initiation. M65208 mRNA Translation: AAA61274.1 AY827087 Genomic DNA Translation: AAV85448.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS55820.1 [P11473-2] CCDS8757.1 [P11473-1]
PIRⁱ	A28200
NCBI Reference Sequences More...RefSeqⁱ	NP_000367.1, NM_000376.2 [P11473-1] NP_001017535.1, NM_001017535.1 [P11473-1] NP_001017536.1, NM_001017536.1 [P11473-2] XP_006719650.1, XM_006719587.3 [P11473-1] XP_011537022.1, XM_011538720.2 [P11473-1]
UniGeneⁱ	Hs.524368

Genome annotation databases

Ensemblⁱ	ENST00000229022; ENSP00000229022; ENSG00000111424 [P11473-1] ENST00000395324; ENSP00000378734; ENSG00000111424 [P11473-1] ENST00000549336; ENSP00000449573; ENSG00000111424 [P11473-1] ENST00000550325; ENSP00000447173; ENSG00000111424 [P11473-2]
GeneIDⁱ	7421
KEGGⁱ	hsa:7421
UCSC genome browser More...UCSCⁱ	uc001rql.4 human [P11473-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P11473	Vitamin D3 receptor (Fragment)		HUMAN		250	UniRef100_P11473
VDR isoform 6 (Fragment)		PANTR		250
Uncharacterized protein		PANPA		427
Vitamin D (1,25-dihydroxyvitamin D3) receptor, isoform CRA_c		HUMAN		427
VDR isoform 1		PANTR		427
+1
P11473-2	VDR isoform 7		PANTR		477	UniRef100_K7BXK6

Protein	Similar proteins		Species	Score	Length	Source
P11473	Vitamin D3 receptor (Fragment)		HUMAN		250	UniRef90_P11473
VDR isoform 6 (Fragment)		PANTR		250
Uncharacterized protein		PANPA		427
Uncharacterized protein		MACFA		427
vitamin D3 receptor		Florida manatee		425
+9
P11473-2	Vitamin D3 receptor		SAGOE		427	UniRef90_Q95MH5
Uncharacterized protein		COLAP		477
Vitamin D receptor		PONAB		486
Uncharacterized protein		RHIRO		477
Uncharacterized protein		RHIBE		477
+61

Protein	Similar proteins		Species	Score	Length	Source
P11473	Vitamin D3 receptor		PIG		427	UniRef50_P11473
Vitamin D3 receptor		BOVIN		426
Vitamin D3 receptor	)	RAT		423
Vitamin D3 receptor (Fragment)		HUMAN		250
VDR isoform 6 (Fragment)		PANTR		250
+135
P11473-2	Vitamin D3 receptor		MOUSE		422	UniRef50_P48281
Vitamin D3 receptor A	)	DANRE		453
Vitamin D3 receptor		SAGOE		427
Uncharacterized protein		PROCO		474
Vitamin D receptor		AILME		445
+226

Cross-referencesⁱ

Web resourcesⁱ

NIEHS-SNPs

SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	J03258 mRNA Translation: AAA61273.1 X67482 mRNA Translation: CAA47824.1 AF026260 mRNA Translation: AAB95155.1 AB002168 Genomic DNA Translation: BAA83389.1 AY342401 Genomic DNA Translation: AAP88938.1 Sequence problems. AK312267 mRNA Translation: BAG35198.1 AC004466 Genomic DNA No translation available. AC121338 Genomic DNA No translation available. CH471111 Genomic DNA Translation: EAW57960.1 CH471111 Genomic DNA Translation: EAW57961.1 BC060832 mRNA Translation: AAH60832.1 Different initiation. M65208 mRNA Translation: AAA61274.1 AY827087 Genomic DNA Translation: AAV85448.1
CCDSⁱ	CCDS55820.1 [P11473-2] CCDS8757.1 [P11473-1]
PIRⁱ	A28200
RefSeqⁱ	NP_000367.1, NM_000376.2 [P11473-1] NP_001017535.1, NM_001017535.1 [P11473-1] NP_001017536.1, NM_001017536.1 [P11473-2] XP_006719650.1, XM_006719587.3 [P11473-1] XP_011537022.1, XM_011538720.2 [P11473-1]
UniGeneⁱ	Hs.524368

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1DB1	X-ray	1.80	A	118-427	[»]
	1IE8	X-ray	1.52	A	118-427	[»]
	1IE9	X-ray	1.40	A	118-427	[»]
	1KB2	X-ray	2.70	A/B	16-125	[»]
	1KB4	X-ray	2.80	A/B	16-125	[»]
	1KB6	X-ray	2.70	A/B	16-125	[»]
	1S0Z	X-ray	2.50	A	118-427	[»]
	1S19	X-ray	2.10	A	118-427	[»]
	1TXI	X-ray	1.90	A	118-427	[»]
	1YNW	X-ray	3.00	A	16-125	[»]
	2HAM	X-ray	1.90	A	118-427	[»]
	2HAR	X-ray	1.90	A	118-427	[»]
	2HAS	X-ray	1.96	A	118-427	[»]
	2HB7	X-ray	1.80	A	118-427	[»]
	2HB8	X-ray	2.00	A	118-427	[»]
	3A2I	X-ray	3.27	A	118-427	[»]
	3A2J	X-ray	2.70	A	118-427	[»]
	3A3Z	X-ray	1.72	X	118-427	[»]
	3A40	X-ray	1.45	X	118-427	[»]
	3A78	X-ray	1.90	A	118-427	[»]
	3AUQ	X-ray	2.64	A	118-427	[»]
	3AUR	X-ray	2.21	A	118-427	[»]
	3AX8	X-ray	2.60	A	118-427	[»]
	3AZ1	X-ray	1.50	A	120-423	[»]
	3AZ2	X-ray	1.69	A	120-423	[»]
	3AZ3	X-ray	1.36	A	120-423	[»]
	3B0T	X-ray	1.30	A	120-423	[»]
	3CS4	X-ray	2.00	A	118-427	[»]
	3CS6	X-ray	1.80	A	118-427	[»]
	3KPZ	X-ray	1.90	A	118-427	[»]
	3M7R	X-ray	1.80	A	120-423	[»]
	3OGT	X-ray	1.75	A	118-427	[»]
	3P8X	X-ray	1.70	A	118-164	[»]
				A	217-427	[»]
	3TKC	X-ray	1.75	A	118-427	[»]
	3VHW	X-ray	2.43	A	118-427	[»]
	3W0A	X-ray	1.80	A	120-423	[»]
	3W0C	X-ray	1.90	A	120-423	[»]
	3W0Y	X-ray	1.98	A	120-423	[»]
	3WGP	X-ray	2.00	A	120-423	[»]
	3WWR	X-ray	3.18	A	118-427	[»]
	3X31	X-ray	2.11	A	118-427	[»]
	3X36	X-ray	1.93	A	118-427	[»]
	4G2I	X-ray	1.80	A	118-427	[»]
	4ITE	X-ray	2.49	A	118-427	[»]
	4ITF	X-ray	2.84	A	118-427	[»]
	5GT4	X-ray	1.83	A	118-423	[»]
	5V39	X-ray	2.20	A	119-425	[»]
	5YSY	X-ray	2.00	A	118-423	[»]
	5YT2	X-ray	2.00	A	118-423	[»]
DisProtⁱ	DP00184
ProteinModelPortalⁱ	P11473
SMRⁱ	P11473
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	113264, 93 interactors
ComplexPortalⁱ	CPX-631 RXRalpha-VDR nuclear hormone receptor complex CPX-871 RXRbeta-VDR nuclear hormone receptor complex
CORUMⁱ	P11473
DIPⁱ	DIP-32624N
ELMⁱ	P11473
IntActⁱ	P11473, 32 interactors
MINTⁱ	P11473
STRINGⁱ	9606.ENSP00000447173

Chemistry databases

BindingDBⁱ	P11473
ChEMBLⁱ	CHEMBL1977
DrugBankⁱ	DB01436 Alfacalcidol DB00146 Calcidiol DB02300 Calcipotriol DB00136 Calcitriol DB00169 Cholecalciferol DB05024 CTA018 DB01070 Dihydrotachysterol DB06410 Doxercalciferol DB05295 Eldecalcitol DB00153 Ergocalciferol DB04796 Inecalcitol DB00910 Paricalcitol DB04258 Seocalcitol
GuidetoPHARMACOLOGYⁱ	605
SwissLipidsⁱ	SLP:000001571

Protein family/group databases

MoonDBⁱ	P11473 Predicted
TCDBⁱ	9.B.208.1.1 the vitamin d3 receptor (vdr) family

PTM databases

iPTMnetⁱ	P11473
PhosphoSitePlusⁱ	P11473

Polymorphism and mutation databases

BioMutaⁱ	VDR
DMDMⁱ	137617

Proteomic databases

EPDⁱ	P11473
MaxQBⁱ	P11473
PaxDbⁱ	P11473
PeptideAtlasⁱ	P11473
PRIDEⁱ	P11473
ProteomicsDBⁱ	52780

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	7421
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000229022; ENSP00000229022; ENSG00000111424 [P11473-1] ENST00000395324; ENSP00000378734; ENSG00000111424 [P11473-1] ENST00000549336; ENSP00000449573; ENSG00000111424 [P11473-1] ENST00000550325; ENSP00000447173; ENSG00000111424 [P11473-2]
GeneIDⁱ	7421
KEGGⁱ	hsa:7421
UCSCⁱ	uc001rql.4 human [P11473-1]

Organism-specific databases

CTDⁱ	7421
DisGeNETⁱ	7421
EuPathDBⁱ	HostDB:ENSG00000111424.10
GeneCardsⁱ	VDR
HGNCⁱ	HGNC:12679 VDR
HPAⁱ	CAB004617 HPA047740
MalaCardsⁱ	VDR
MIMⁱ	277440 phenotype 601769 gene 607948 phenotype
neXtProtⁱ	NX_P11473
OpenTargetsⁱ	ENSG00000111424
Orphanetⁱ	93160 Hypocalcemic vitamin D-resistant rickets
PharmGKBⁱ	PA37301
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3575 Eukaryota ENOG410XRZC LUCA
GeneTreeⁱ	ENSGT00870000136372
HOGENOMⁱ	HOG000220844
HOVERGENⁱ	HBG108655
InParanoidⁱ	P11473
KOⁱ	K08539
OMAⁱ	FTQFRPP
OrthoDBⁱ	EOG091G05X3
PhylomeDBⁱ	P11473
TreeFamⁱ	TF316304

Enzyme and pathway databases

Reactomeⁱ	R-HSA-196791 Vitamin D (calciferol) metabolism R-HSA-383280 Nuclear Receptor transcription pathway R-HSA-4090294 SUMOylation of intracellular receptors
SignaLinkⁱ	P11473
SIGNORⁱ	P11473

Miscellaneous databases

ChiTaRSⁱ	VDR human
EvolutionaryTraceⁱ	P11473
GeneWikiⁱ	Calcitriol_receptor
GenomeRNAiⁱ	7421
Protein Ontology More...PROⁱ	PR:P11473
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000111424 Expressed in 187 organ(s), highest expression level in tibia
CleanExⁱ	HS_VDR
ExpressionAtlasⁱ	P11473 baseline and differential
Genevisibleⁱ	P11473 HS

Family and domain databases

Gene3Dⁱ	3.30.50.10, 1 hit
InterProⁱ	View protein in InterPro IPR035500 NHR_like_dom_sf IPR000536 Nucl_hrmn_rcpt_lig-bd IPR001723 Nuclear_hrmn_rcpt IPR000324 VitD_rcpt IPR001628 Znf_hrmn_rcpt IPR013088 Znf_NHR/GATA
Pfamⁱ	View protein in Pfam PF00104 Hormone_recep, 1 hit PF00105 zf-C4, 1 hit
PRINTSⁱ	PR00398 STRDHORMONER PR00047 STROIDFINGER PR00350 VITAMINDR
SMARTⁱ	View protein in SMART SM00430 HOLI, 1 hit SM00399 ZnF_C4, 1 hit
SUPFAMⁱ	SSF48508 SSF48508, 1 hit
PROSITEⁱ	View protein in PROSITE PS51843 NR_LBD, 1 hit PS00031 NUCLEAR_REC_DBD_1, 1 hit PS51030 NUCLEAR_REC_DBD_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	VDR_HUMAN
Accessionⁱ	P11473Primary (citable) accession number: P11473 Secondary accession number(s): B2R5Q1, G3V1V9, Q5PSV3
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 1, 1989
	Last sequence update:	October 1, 1989
	Last modified:	November 7, 2018
	This is version 223 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM

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UniProtKB - P11473 (VDR_HUMAN)

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Vitamin D3 receptor

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

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<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

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<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

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<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

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<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

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<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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Keywords - Coding sequence diversityi

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GO - Molecular functionⁱ

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Keywords - Cellular componentⁱ

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Keywords - Diseaseⁱ

PTM / Processingⁱ

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GO - Molecular functionⁱ

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Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

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Miscellaneousⁱ

Keywords - Technical termⁱ