| URN | urn:agi-llid:7421 |
|---|---|
| Total Entities | 0 |
| Connectivity | 1633 |
| Name | Vdr |
| Description | vitamin D (1,25- dihydroxyvitamin D3) receptor |
| Notes | 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] |
| Ariadne Ontology | Thr-like |
|---|---|
| Secreted proteins | |
| Biofluids assayable substances |
| GO Molecular Function | retinoid X receptor binding |
|---|---|
| vitamin D binding | |
| DNA binding | |
| sequence-specific DNA binding | |
| vitamin D response element binding | |
| metal ion binding | |
| zinc ion binding | |
| sequence-specific DNA binding transcription factor activity | |
| ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity | |
| vitamin D3 receptor activity | |
| steroid hormone receptor activity |
| GO Cellular Component | nuclear chromosome |
|---|---|
| nucleoplasm | |
| nuclear heterochromatin | |
| T-tubule | |
| cytosol | |
| intracellular membrane-bounded organelle | |
| nucleus |
| GO Biological Process | vitamin D receptor signaling pathway |
|---|---|
| signal transduction | |
| apoptotic signaling pathway | |
| intracellular receptor mediated signaling pathway | |
| steroid hormone mediated signaling pathway | |
| positive regulation of transcription from RNA polymerase II promoter | |
| negative regulation of transcription, DNA-dependent | |
| negative regulation of transcription from RNA polymerase II promoter | |
| regulation of transcription, DNA-dependent | |
| regulation of transcription from RNA polymerase II promoter | |
| negative regulation of cell proliferation | |
| negative regulation of keratinocyte proliferation | |
| positive regulation of keratinocyte differentiation | |
| positive regulation of apoptotic process involved in mammary gland involution | |
| cell morphogenesis | |
| transcription, DNA-dependent | |
| transcription initiation from RNA polymerase II promoter | |
| cellular calcium ion homeostasis | |
| response to calcium ion | |
| response to estradiol stimulus | |
| positive regulation of gene expression | |
| positive regulation of vitamin D 24-hydroxylase activity | |
| regulation of calcidiol 1-monooxygenase activity | |
| regulation of calcium ion transport | |
| multicellular organismal development | |
| aging | |
| mammary gland branching involved in pregnancy | |
| decidualization | |
| skeletal system development | |
| organ morphogenesis | |
| intestinal absorption | |
| lactation | |
| calcium ion transport | |
| gene expression |
| Pathway | TGFB1-TGFBR2 Expression Targets |
|---|---|
| PRL-GHR/NF-kB/ELK-SRF/MYC Expression Targets | |
| PRL-PRLR Expression Targets | |
| IFNG-IFNR Expression Targets | |
| TCR/AP-1 Expression Targets | |
| IGF1/STAT Expression Targets | |
| IGF1/ELK-SRF/HIF1A/MYC/SREBF Expression Targets | |
| IGF1/MEF/MYOD/MYOG Expression Targets | |
| TGFB1-ACVRL1 Expression Targets | |
| TGFB1-TGFBR1/AP-1 Expression Targets | |
| TLR4/AP-1 Expression Targets | |
| altered p53 signaling pathway |
| Group | Thr-like |
|---|---|
| vitamin D receptor signaling pathway | |
| signal transduction | |
| apoptotic signaling pathway | |
| intracellular receptor mediated signaling pathway | |
| steroid hormone mediated signaling pathway | |
| positive regulation of transcription from RNA polymerase II promoter | |
| negative regulation of transcription, DNA-dependent | |
| negative regulation of transcription from RNA polymerase II promoter | |
| regulation of transcription, DNA-dependent | |
| regulation of transcription from RNA polymerase II promoter | |
| negative regulation of cell proliferation | |
| negative regulation of keratinocyte proliferation | |
| positive regulation of keratinocyte differentiation | |
| positive regulation of apoptotic process involved in mammary gland involution | |
| cell morphogenesis | |
| transcription, DNA-dependent | |
| transcription initiation from RNA polymerase II promoter | |
| cellular calcium ion homeostasis | |
| response to calcium ion | |
| response to estradiol stimulus | |
| positive regulation of gene expression | |
| positive regulation of vitamin D 24-hydroxylase activity | |
| regulation of calcidiol 1-monooxygenase activity | |
| regulation of calcium ion transport | |
| multicellular organismal development | |
| aging | |
| mammary gland branching involved in pregnancy | |
| decidualization | |
| skeletal system development | |
| organ morphogenesis | |
| intestinal absorption | |
| lactation | |
| calcium ion transport | |
| gene expression | |
| retinoid X receptor binding | |
| vitamin D binding | |
| DNA binding | |
| sequence-specific DNA binding | |
| vitamin D response element binding | |
| metal ion binding | |
| zinc ion binding | |
| sequence-specific DNA binding transcription factor activity | |
| ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity | |
| vitamin D3 receptor activity | |
| steroid hormone receptor activity | |
| nuclear chromosome | |
| nucleoplasm | |
| nuclear heterochromatin | |
| T-tubule | |
| cytosol | |
| intracellular membrane-bounded organelle | |
| nucleus | |
| Secreted proteins | |
| Biofluids assayable substances |
| MedScan ID | 7421 |
|---|
| Hugo ID | 12679 |
|---|
| Human chromosome position | 12q13.11 |
|---|
| LocusLink ID | 7421 |
|---|---|
| 22337 | |
| 24873 |
| Alias | NR1I1 |
|---|---|
| vitamin D3 receptor | |
| 1,25-dihydroxyvitamin D3 receptor | |
| vitamin D nuclear receptor variant 1 | |
| nuclear receptor subfamily 1 group I member 1 | |
| vitamin D receptor | |
| vitamin D (1,25-dihydroxyvitamin D3) receptor | |
| vitamin D (1,25- dihydroxyvitamin D3) receptor | |
| vitamin D receptors | |
| vitamin D (1,25- dihydroxyvitamin D3) receptors | |
| Vitamin D (125-dihydroxyvitamin D3) receptor | |
| Vitamin D3 receptors | |
| NR1I I | |
| 125-dihydroxyvitamin D3 receptors | |
| 125-dihydroxyvitamin D3 receptor | |
| 1,25-dihydroxyvitamin D3 receptors | |
| Vitamin D (125-dihydroxyvitamin D3) receptors | |
| VDR |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 601769 |
|---|---|
| 166710 | |
| 277440 |
| Unigene ID | Hs.524368 |
|---|---|
| Mm.245084 | |
| Rn.10911 |
| KEGG ID | hsa:7421 |
|---|---|
| mmu:22337 | |
| rno:24873 |
| Swiss-Prot Accession | F1D8P8 |
|---|---|
| P11473 | |
| G3V1V9 | |
| P48281 | |
| P13053 | |
| B2R5Q1 | |
| Q5PSV3 | |
| Q922X0 |
| GO ID | 0003677 |
|---|---|
| 0046965 | |
| 0043565 | |
| 0003700 | |
| 0003707 | |
| 0070644 | |
| 0008434 | |
| 0008270 | |
| 0000902 | |
| 0046697 | |
| 0010467 | |
| 0008285 | |
| 0010839 | |
| 0000122 | |
| 0045892 | |
| 0010628 | |
| 0045618 | |
| 0045944 | |
| 0010980 | |
| 0060558 | |
| 0007165 | |
| 0006367 | |
| 0070561 | |
| 0005654 | |
| 0005634 | |
| 0004879 | |
| 0046872 | |
| 0005499 | |
| 0006816 | |
| 0006874 | |
| 0050892 | |
| 0030522 | |
| 0007595 | |
| 0060745 | |
| 0007275 | |
| 0009887 | |
| 0060058 | |
| 0051924 | |
| 0006355 | |
| 0001501 | |
| 0043401 | |
| 0006351 | |
| 0030315 | |
| 0005829 | |
| 0043231 | |
| 0005720 | |
| 0007568 | |
| 0097190 | |
| 0006357 | |
| 0051592 | |
| 0032355 | |
| 0000228 | |
| 0008624 |
| PIR ID | A28200 |
|---|---|
| A31761 | |
| PC4019 |
| Swiss-Prot ID | VDR_HUMAN |
|---|---|
| VDR_RAT | |
| VDR_MOUSE |
| Cell Localization | Nucleus |
|---|
| IPI ID | IPI00005716 |
|---|---|
| IPI00197467 | |
| IPI00311693 |
| Mouse chromosome position | 15 |
|---|
| Rat chromosome position | 7q36 |
|---|
| Homologene ID | 37297 |
|---|
| MGI ID | 103076 |
|---|
| RGD ID | 3959 |
|---|
| Primary Cell Localization | Nucleus |
|---|