| URN | urn:agi-llid:7421 |
|---|---|
| Name | VDR |
| Description | vitamin D (1,25- dihydroxyvitamin D3) receptor |
| Connectivity | 606 |
| 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 the same protein. |
| Swiss-Prot Accession | B2R5Q1 |
|---|---|
| P11473 | |
| Q5PSV3 | |
| Q6T928 | |
| Q6ZPC2 | |
| Q922X0 | |
| P48281 | |
| Q3U0J7 | |
| Q4FJV8 | |
| P13053 |
| Unigene ID | Hs.524368 |
|---|---|
| Mm.245084 | |
| Rn.10911 |
| KEGG ID | hsa:7421 |
|---|---|
| mmu:22337 | |
| rno:24873 |
| Swiss-Prot ID | VDR_HUMAN |
|---|---|
| VDR_RAT | |
| B2R5Q1_HUMAN | |
| Q922X0_MOUSE |
| Cell Localization | Nucleus |
|---|
| GO ID | 0046872 |
|---|---|
| 0005515 | |
| 0043565 | |
| 0003707 | |
| 0003700 | |
| 0008434 | |
| 0008270 | |
| 0006816 | |
| 0006874 | |
| 0050892 | |
| 0007275 | |
| 0016481 | |
| 0009887 | |
| 0006355 | |
| 0007165 | |
| 0001501 | |
| 0005634 | |
| 0003677 | |
| 0004879 | |
| 0004872 | |
| 0030528 | |
| 0006350 | |
| 0005499 | |
| 0008628 | |
| 0006357 | |
| 0000228 | |
| 0005720 |
| Pathway | PPARG Targets |
|---|---|
| Toxicology Array | |
| VDR Targets |
| IPI ID | IPI00005716 |
|---|---|
| IPI00443026 | |
| IPI00311693 | |
| IPI00387300 | |
| IPI00881108 | |
| IPI00197467 |
| Ariadne Ontology | Thr-like |
|---|
| Mouse chromosome position | 15 F1 |
|---|
| GO Molecular Function | transcription regulator activity |
|---|---|
| protein binding | |
| metal ion binding | |
| zinc ion binding | |
| vitamin D binding | |
| DNA binding | |
| sequence-specific DNA binding | |
| transcription factor activity | |
| receptor activity | |
| ligand-dependent nuclear receptor activity | |
| steroid hormone receptor activity | |
| vitamin D3 receptor activity |
| Homologene ID | 37297 |
|---|
| Hugo ID | 12679 |
|---|
| GO Cellular Component | nucleus |
|---|---|
| nuclear chromosome | |
| nuclear heterochromatin |
| MGI ID | 103076 |
|---|
| Human chromosome position | 12q13.11 |
|---|
| GO Biological Process | negative regulation of transcription |
|---|---|
| induction of apoptosis by hormones | |
| signal transduction | |
| regulation of transcription, DNA-dependent | |
| regulation of transcription from RNA polymerase II promoter | |
| cellular calcium ion homeostasis | |
| transcription | |
| multicellular organismal development | |
| organ morphogenesis | |
| skeletal system development | |
| calcium ion transport | |
| intestinal absorption |
| Rat chromosome position | 7q36 |
|---|
| Group | Thr-like |
|---|---|
| nucleus | |
| nuclear chromosome | |
| nuclear heterochromatin | |
| transcription regulator activity | |
| protein binding | |
| metal ion binding | |
| zinc ion binding | |
| vitamin D binding | |
| DNA binding | |
| sequence-specific DNA binding | |
| transcription factor activity | |
| receptor activity | |
| ligand-dependent nuclear receptor activity | |
| steroid hormone receptor activity | |
| vitamin D3 receptor activity | |
| negative regulation of transcription | |
| induction of apoptosis by hormones | |
| signal transduction | |
| regulation of transcription, DNA-dependent | |
| regulation of transcription from RNA polymerase II promoter | |
| cellular calcium ion homeostasis | |
| transcription | |
| multicellular organismal development | |
| organ morphogenesis | |
| skeletal system development | |
| calcium ion transport | |
| intestinal absorption |
| RGD ID | 3959 |
|---|
| LocusLink ID | 7421 |
|---|---|
| 22337 | |
| 24873 |
| Alias | NR1I1 |
|---|---|
| vitamin D (1,25-dihydroxyvitamin D3) receptor | |
| vitamin D receptor | |
| vitamin D (1,25- dihydroxyvitamin D3) receptor | |
| Vitamin D (125-dihydroxyvitamin D3) receptor | |
| Vitamin D3 receptor | |
| 1,25-dihydroxyvitamin D3 receptor | |
| NR1I I | |
| 125-dihydroxyvitamin D3 receptors | |
| Vitamin D (125-dihydroxyvitamin D3) receptors | |
| vitamin D receptors | |
| Vitamin D3 receptors | |
| vitamin D (1,25- dihydroxyvitamin D3) receptors | |
| 1,25-dihydroxyvitamin D3 receptors | |
| 125-dihydroxyvitamin D3 receptor | |
| VDR |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 601769 |
|---|---|
| 166710 | |
| 277440 |