Gene/Proteome Database (LMPD)

LMPD ID
LMP001123
Gene ID
7421
Species
Homo sapiens (Human)
Gene Name
vitamin D (1,25- dihydroxyvitamin D3) receptor
Gene Symbol
VDR
Synonyms
NR1I1; PPP1R163
Chromosome
12
Map Location
12q13.11
Summary
This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011]
Orthologs
View orthologs and multiple alignments for VDR

Proteins

vitamin D3 receptor isoform VDRA
Refseq ID NP_000367
Protein GI 4507883
UniProt ID P11473
mRNA ID NM_000376
Length 427
RefSeq Status REVIEWED
MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS
vitamin D3 receptor isoform VDRA
Refseq ID NP_001017535
Protein GI 63054845
UniProt ID P11473
mRNA ID NM_001017535
Length 427
RefSeq Status REVIEWED
Protein sequence is identical to GI:4507883 (mRNA isoform)
vitamin D3 receptor isoform VDRB1
Refseq ID NP_001017536
Protein GI 323714265
UniProt ID P11473
mRNA ID NM_001017536
Length 477
RefSeq Status REVIEWED
MEWRNKKRSDWLSMVLRTAGVEEAFGSEVSVRPHRRAPLGSTYLPPAPSGMEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS

Gene Information

Entrez Gene ID
7421
Gene Name
vitamin D (1,25- dihydroxyvitamin D3) receptor
Gene Symbol
VDR
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005654 TAS:Reactome C nucleoplasm
GO:0005634 IDA:UniProtKB C nucleus
GO:0003677 IDA:MGI F DNA binding
GO:1902098 IDA:UniProtKB F calcitriol binding
GO:0008434 IDA:UniProtKB F calcitriol receptor activity
GO:1902121 IDA:UniProtKB F lithocholic acid binding
GO:0038186 IDA:UniProtKB F lithocholic acid receptor activity
GO:0046965 IPI:BHF-UCL F retinoid X receptor binding
GO:0043565 IEA:InterPro F sequence-specific DNA binding
GO:0003707 IEA:InterPro F steroid hormone receptor activity
GO:0008270 IEA:InterPro F zinc ion binding
GO:0038183 IDA:UniProtKB P bile acid signaling pathway
GO:0006816 IEA:Ensembl P calcium ion transport
GO:0000902 IMP:UniProtKB P cell morphogenesis
GO:0006874 IEA:Ensembl P cellular calcium ion homeostasis
GO:0046697 IEP:BHF-UCL P decidualization
GO:0010467 TAS:Reactome P gene expression
GO:0050892 IEA:Ensembl P intestinal absorption
GO:0007595 IEA:Ensembl P lactation
GO:0060745 IEA:Ensembl P mammary gland branching involved in pregnancy
GO:0008285 IDA:BHF-UCL P negative regulation of cell proliferation
GO:0010839 IMP:UniProtKB P negative regulation of keratinocyte proliferation
GO:0000122 IDA:BHF-UCL P negative regulation of transcription from RNA polymerase II promoter
GO:0045892 IDA:MGI P negative regulation of transcription, DNA-templated
GO:0009887 IEA:Ensembl P organ morphogenesis
GO:0060058 IEA:Ensembl P positive regulation of apoptotic process involved in mammary gland involution
GO:0010628 IMP:UniProtKB P positive regulation of gene expression
GO:0045618 IMP:UniProtKB P positive regulation of keratinocyte differentiation
GO:0045944 IMP:UniProtKB P positive regulation of transcription from RNA polymerase II promoter
GO:0010980 IDA:BHF-UCL P positive regulation of vitamin D 24-hydroxylase activity
GO:0060558 ISS:BHF-UCL P regulation of calcidiol 1-monooxygenase activity
GO:0007165 TAS:ProtInc P signal transduction
GO:0001501 IEA:Ensembl P skeletal system development
GO:0006367 TAS:Reactome P transcription initiation from RNA polymerase II promoter
GO:0070561 IDA:BHF-UCL P vitamin D receptor signaling pathway

KEGG Pathway Links

KEGG Pathway ID Description
hsa04961 Endocrine and other factor-regulated calcium reabsorption
hsa04978 Mineral absorption
hsa05152 Tuberculosis

Domain Information

InterPro Annotations

Accession Description
IPR008946 Nuclear hormone receptor, ligand-binding
IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001723 Steroid hormone receptor
IPR000324 Vitamin D receptor
IPR013088 Zinc finger, NHR/GATA-type
IPR001628 Zinc finger, nuclear hormone receptor-type

UniProt Annotations

Entry Information

Gene Name
vitamin D (1,25- dihydroxyvitamin D3) receptor
Protein Entry
VDR_HUMAN
UniProt ID
P11473
Species
Human

Comments

Comment Type Description
Alternative Products Event=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.;
Caution It is uncertain whether Met-1 or Met-4 is the initiator.
Disease Rickets vitamin D-dependent 2A (VDDR2A) [MIM
Domain Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
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
Interaction Q09472: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;
Polymorphism Genetic variations in VDR may determine Mycobacterium tuberculosis susceptibility [MIM
Sequence Caution Sequence=AAH60832.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=AAP88938.1; Type=Erroneous gene model prediction; Evidence= ;
Similarity Belongs to the nuclear hormone receptor family. NR1 subfamily.
Similarity Contains 1 nuclear receptor DNA-binding domain.
Subcellular Location Nucleus.
Subunit 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 (in a ligand-dependent manner) with BAZ1B/WSTF. Interacts with SNW1. Interacts with IRX4, the interaction doesn't affect its transactivation activity. {ECO
Web Resource Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/vdr/";
Web Resource Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=VDR";

Identical and Related Proteins

Unique RefSeq proteins for LMP001123 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4507883 RefSeq NP_000367 427 vitamin D3 receptor isoform VDRA
323714265 RefSeq NP_001017536 477 vitamin D3 receptor isoform VDRB1

Identical Sequences to LMP001123 proteins

Reference Database Accession Length Protein Name
GI:323714265 GenBank EAW57960.1 477 vitamin D (1,25- dihydroxyvitamin D3) receptor, isoform CRA_b [Homo sapiens]
GI:323714265 GenBank ABZ50651.1 477 Sequence 9 from patent US 7317078
GI:323714265 GenBank JAA08271.1 477 vitamin D (1,25- dihydroxyvitamin D3) receptor [Pan troglodytes]
GI:323714265 GenBank JAA16694.1 477 vitamin D (1,25- dihydroxyvitamin D3) receptor [Pan troglodytes]
GI:323714265 GenBank JAA16695.1 477 vitamin D (1,25- dihydroxyvitamin D3) receptor [Pan troglodytes]
GI:323714265 GenBank JAA31670.1 477 vitamin D (1,25- dihydroxyvitamin D3) receptor [Pan troglodytes]
GI:4507883 GenBank AHD76456.1 427 Sequence 19729 from patent US 8586006
GI:4507883 GenBank AHE20283.1 427 Sequence 1 from patent US 8574862
GI:4507883 GenBank AIC49959.1 427 VDR, partial [synthetic construct]
GI:4507883 RefSeq XP_006719650.1 427 PREDICTED: vitamin D3 receptor isoform X1 [Homo sapiens]
GI:4507883 RefSeq XP_008949369.1 427 PREDICTED: vitamin D3 receptor [Pan paniscus]
GI:4507883 RefSeq XP_008949370.1 427 PREDICTED: vitamin D3 receptor [Pan paniscus]

Related Sequences to LMP001123 proteins

Reference Database Accession Length Protein Name
GI:4507883 GenBank EAW57960.1 477 vitamin D (1,25- dihydroxyvitamin D3) receptor, isoform CRA_b [Homo sapiens]
GI:4507883 GenBank ABZ50651.1 477 Sequence 9 from patent US 7317078
GI:323714265 GenBank ACM83989.1 455 Sequence 9487 from patent US 6812339
GI:4507883 GenBank JAA08271.1 477 vitamin D (1,25- dihydroxyvitamin D3) receptor [Pan troglodytes]
GI:4507883 GenBank JAA16694.1 477 vitamin D (1,25- dihydroxyvitamin D3) receptor [Pan troglodytes]
GI:4507883 GenBank JAA16695.1 477 vitamin D (1,25- dihydroxyvitamin D3) receptor [Pan troglodytes]
GI:4507883 RefSeq NP_001017536.1 477 vitamin D3 receptor isoform VDRB1 [Homo sapiens]
GI:323714265 RefSeq XP_003906316.1 477 PREDICTED: vitamin D3 receptor isoform X3 [Papio anubis]
GI:323714265 RefSeq XP_004053067.1 477 PREDICTED: vitamin D3 receptor isoform 2 [Gorilla gorilla gorilla]
GI:323714265 RefSeq XP_005570728.1 477 PREDICTED: vitamin D3 receptor isoform X2 [Macaca fascicularis]
GI:323714265 RefSeq XP_008001209.1 477 PREDICTED: vitamin D3 receptor isoform X4 [Chlorocebus sabaeus]
GI:323714265 RefSeq XP_009245935.1 477 PREDICTED: vitamin D3 receptor isoform X1 [Pongo abelii]