NP_001017536.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
53,883 Da
NCBI Official Full Name
vitamin D3 receptor isoform VDRB1
NCBI Official Synonym Full Names
vitamin D (1,25- dihydroxyvitamin D3) receptor
NCBI Protein Information
vitamin D3 receptor; 1,25-dihydroxyvitamin D3 receptor; nuclear receptor subfamily 1 group I member 1; protein phosphatase 1, regulatory subunit 163; vitamin D nuclear receptor variant 1
UniProt Protein Name
Vitamin D3 receptor
UniProt Synonym Protein Names
1,25-dihydroxyvitamin D3 receptor; Nuclear receptor subfamily 1 group I member 1
UniProt Synonym Gene Names
UniProt Entry Name
VDR_HUMAN
NCBI Summary for VDR
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]
UniProt Comments for VDR
VDR: 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. Defects in VDR are the cause of rickets vitamin D- dependent type 2A (VDDR2A). A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets. Belongs to the nuclear hormone receptor family. NR1 subfamily.
Protein type: Transcription factor; DNA-binding; Nuclear receptor
Chromosomal Location of Human Ortholog: 12q13.11
Cellular Component: nucleoplasm; nucleus; receptor complex
Molecular Function: retinoid X receptor binding; protein binding; DNA binding; zinc ion binding; sequence-specific DNA binding; steroid hormone receptor activity; vitamin D3 receptor activity; transcription factor activity
Biological Process: lactation; transcription initiation from RNA polymerase II promoter; cell morphogenesis; positive regulation of apoptosis involved in mammary gland involution; negative regulation of transcription from RNA polymerase II promoter; decidualization; signal transduction; intestinal absorption; cellular calcium ion homeostasis; negative regulation of cell proliferation; calcium ion transport; positive regulation of transcription from RNA polymerase II promoter; steroid hormone mediated signaling; gene expression; negative regulation of transcription, DNA-dependent; skeletal development; positive regulation of keratinocyte differentiation
Disease: Vitamin D-dependent Rickets, Type 2a; Osteoporosis
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Products associated with VDR elisa kit
Pathways associated with VDR elisa kit
Diseases associated with VDR elisa kit
Organs/Tissues associated with VDR elisa kit
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