VDR - vitamin D receptor Gene
Also Known as NR1I1; PPP1R163
Species: Homo sapiens
About VDR
This gene has 8 transcripts (splice variants), 462 orthologues, 18 paralogues and is associated with 3 phenotypes. Broad expression in small intestine (RPKM 24.6), duodenum (RPKM 24.1) and 14 other tissues.
Summary
This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of Other metabolic pathways, such as those involved in 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. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
VDR Products (8)
| mRNA | Protein | Name |
|---|---|---|
| XM_047429500.1 | XP_047285456.1 | vitamin D3 receptor isoform X2 |
| NM_001017535.2 | NP_001017535.1 | vitamin D3 receptor isoform VDRA |
| XM_024449178.2 | XP_024304946.1 | vitamin D3 receptor isoform X1 |
| NM_001364085.2 | NP_001351014.1 | vitamin D3 receptor isoform VDRAx |
| NM_001374662.1 | NP_001361591.1 | vitamin D3 receptor isoform VDRA |
| NM_001017536.2 | NP_001017536.1 | vitamin D3 receptor isoform VDRB1 |
| NM_000376.3 | NP_000367.1 | vitamin D3 receptor isoform VDRA |
| NM_001374661.1 | NP_001361590.1 | vitamin D3 receptor isoform VDRA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of RNA polymerase II transcription regulator complex |
IDA
IDA: Inferred from direct assay
|
17426122 | GOA |
| part of RNA polymerase II transcription regulator complex |
IPI
IPI: Inferred from physical interaction
|
22179700 | GOA |
| located in chromatin |
IDA
IDA: Inferred from direct assay
|
12016314 | GOA |
| is active in nucleus |
IDA
IDA: Inferred from direct assay
|
16207705 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
15589699 | GOA |
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
17426122 | GOA |
VDR Protein Structure
zf-C4: Zinc finger, C4 type (two domains) (23 - 91)
Hormone_recep: Ligand-binding domain of nuclear hormone receptor (217 - 406)
- 0
- 100
- 200
- 300
- 400
- 427 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
vitamin D3 receptor |
|
|
VDR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
VDR | P11473 | PTPN3 | Homo sapiens | P26045 | 21119599 | |
|
Intra
|
VDR | P11473 | PTPN3 | Homo sapiens | P26045 | 21119599 | |
|
Intra
|
VDR | P11473 | SQSTM1 | Homo sapiens | Q13501 | 27728806 | |
|
Cross
|
VDR | P11473 | Rxra | Mus musculus | P28700 | 27728806 | |
|
Intra
|
VDR | P11473 | TRIP13 | Homo sapiens | Q15645 | 25910212 | |
|
Intra
|
VDR | P11473 | TRIP13 | Homo sapiens | Q15645 | 25910212 | |
|
Intra
|
VDR | P11473 | TRIP13 | Homo sapiens | Q15645 | 25910212 | |
|
Intra
|
VDR | P11473 | TP53 | Homo sapiens | P04637 | 20227041 | |
|
Intra
|
VDR | P11473 | TP53 | Homo sapiens | P04637 | 20227041 | |
|
Intra
|
VDR | P11473 | MED1 | Homo sapiens | Q15648 | 9653119 | |
|
Intra
|
VDR | P11473 | EP300 | Homo sapiens | Q09472 | 21988832 | |
|
Intra
|
VDR | P11473 | EP300 | Homo sapiens | Q09472 | 20089040 | |
|
Intra
|
VDR | P11473 | NCOA1 | Homo sapiens | Q15788 | 12403843 | |
|
Intra
|
VDR | P11473 | SNW1 | Homo sapiens | Q13573 | 9632709 | |
|
Intra
|
VDR | P11473 | SNW1 | Homo sapiens | Q13573 | 12840015 | |
|
Intra
|
VDR | P11473 | SNW1 | Homo sapiens | Q13573 | 9632709 | |
|
Intra
|
VDR | P11473 | MEOX2 | Homo sapiens | P50222 | 25910212 | |
|
Intra
|
VDR | P11473 | MEOX2 | Homo sapiens | P50222 | 25910212 | |
|
Intra
|
VDR | P11473 | MEOX2 | Homo sapiens | P50222 | 25910212 | |
|
Intra
|
VDR | P11473 | RXRA | Homo sapiens | P19793 | 22179700 | |
|
Cross
|
VDR | P11473 | Ncoa6 | Rattus norvegicus | Q9JLI4 | 10866662 |
Recombinant VDR Proteins
| Cat. No. | 상품명 | Accession | Purity |
|---|---|---|---|
| HY-P73543 | Vitamin D Receptor/VDR Protein, Human (sf9, His) | P11473 (M1-S427) | ≥ 90%, as determined by reducing SDS-PAGE. |
VDR Antibodies
| Cat. No. | 상품명 | 신청 | Reactivity |
|---|---|---|---|
| HY-P81203 | Vitamin D Receptor Antibody | IHC-P, IHC-F, ICC/IF | Human, Rat |
| HY-P85862 | Vitamin D Receptor Antibody (YA5554) | WB, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Vitamin D Hydroxylation-Deficient Rickets, Type 1b |
|
|
| Aggressive Periodontitis |
|
|
| Cystic Fibrosis |
|
|
| Hypocalcemia, Autosomal Dominant 1 |
|
|
| Rickets |
|
|
| Hypercalciuria, Absorptive, 2 |
|
|
| Hypercalcemia, Infantile, 1 |
|
|
| Hypervitaminosis D |
|
|
| Lymphadenitis |
|
|
| Rosacea |
|
|
| Prostatitis |
|
|
| Skin Carcinoma |
|
|
| Rete Ovarii Adenoma |
|
|
| Calciphylaxis |
|
|
| Scoliosis |
|
|
| Kidney Disease |
|
|
| Turner Syndrome |
|
|
| Nephrotic Syndrome, Type 20 |
|
|
| Osteochondrosis |
|
|
| Urolithiasis |
|
|
| Osteomalacia |
|
|
| Malaria |
|
|
| Graves' Disease |
|
|
| Spondylosis |
|
|
| Hypophosphatemic Rickets, X-Linked Recessive |
|
|
| Nephrolithiasis, Calcium Oxalate |
|
|
| Hyperphosphatemia |
|
|
| Mycobacterium Tuberculosis 1 |
|
|
| Bone Resorption Disease |
|
|
| Immune Deficiency Disease |
|
|
| Skin Disease |
|
|
| Osteoporosis |
|
|
| Mouth Disease |
|
|
| Autism |
|
|
| Otosclerosis |
|
|
| Atrichia With Papular Lesions |
|
|
| Psoriasis |
|
|
| Cardiovascular System Disease |
|
|
| Bone Remodeling Disease |
|
|
| Chronic Kidney Disease |
|
|
| Primary Biliary Cholangitis |
|
|
| Primary Hyperparathyroidism |
|
|
| Multiple Sclerosis |
|
|
| Hand, Foot And Mouth Disease |
|
|
| Mineral Metabolism Disease |
|
|
| Trichothiodystrophy |
|
|
| Prostate Cancer |
|
|
| Hypertension, Essential |
|
|
| Parathyroid Adenoma |
|
|
| Alopecia |
|
|
| Autoimmune Disease |
|
|
| Osteonecrosis |
|
|
| Dental Caries |
|
|
| Bone Disease |
|
|
| Syringomyelia |
|
|
| Plasmablastic Lymphoma |
|
|
| Rete Ovarii Benign Neoplasm |
|
|
| Periodontitis |
|
|
| Congenital Hypothyroidism |
|
|
| Diabetes Mellitus |
|
|
| Hypophosphatemia |
|
|
| Infertility |
|
|
| Erythema Nodosum |
|
|
| Restless Legs Syndrome |
|
|
| Basal Cell Carcinoma |
|
|
| Beta-Thalassemia |
|
|
| Secondary Hyperparathyroidism |
|
|
| Pulmonary Tuberculosis |
|
|
| Rectum Cancer |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Hepatocellular Clear Cell Carcinoma |
|
|
| Hypoparathyroidism |
|
|
| Renal Osteodystrophy |
|
|
| Asthma |
|
|
| Vitamin D Hydroxylation-Deficient Rickets, Type 1a |
|
|
| Parathyroid Gland Disease |
|
|
| Hyperparathyroidism |
|
|
| Williams-Beuren Syndrome |
|
|
| Colorectal Cancer |
|
|
| Vitamin D-Dependent Rickets |
|
|
| Leprosy 3 |
|
|
| Inflammatory Bowel Disease |
|
|
| Covid-19 |
|
|
| Intervertebral Disc Disease |
|
|
| Dentinogenesis Imperfecta |
|
|
| Phosphorus Metabolism Disease |
|
|
| Autism Spectrum Disorder |
|
|
| Vitamin D-Dependent Rickets, Type 2a |
|
|
| Uremia |
|
|
| Nephrolithiasis |
|
|
| Fabry Disease |
|
|
| Osteogenic Sarcoma |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | VDR | VGNC | VGNC:36784 |
| Canis familiaris | VDR | VGNC | VGNC:48249 |
| Macaca mulatta | VDR | VGNC | VGNC:78764 |
| Mus musculus | VDR | MGD | MGI:103076 |
| Rattus norvegicus | VDR | RGD | RGD:3959 |
| Felis catus | VDR | VGNC | VGNC:66935 |
| Others | VDR | NCBI |