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    VDR vitamin D receptor [ Macaca mulatta (Rhesus monkey) ]

    Gene ID: 706964, updated on 17-Aug-2024

    Summary

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    Official Symbol
    VDRprovided by VGNC
    Official Full Name
    vitamin D receptorprovided by VGNC
    Primary source
    VGNC:VGNC:78764
    See related
    Ensembl:ENSMMUG00000006727
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Macaca mulatta
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Cercopithecidae; Cercopithecinae; Macaca
    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 in human. A recent study provided evidence for translation readthrough in this gene, and expression of a C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
    Orthologs
    human mouse all
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    Genomic context

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    See VDR in Genome Data Viewer
    Location:
    chromosome: 11
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    103 current Mmul_10 (GCF_003339765.1) 11 NC_041764.1 (47393584..47500079, complement)
    102 previous assembly Mmul_8.0.1 (GCF_000772875.2) 11 NC_027903.1 (46058411..46165181, complement)

    Chromosome 11 - NC_041764.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC114670834 Neighboring gene Rap guanine nucleotide exchange factor 3 Neighboring gene solute carrier family 48 member 1 Neighboring gene histone deacetylase 7 Neighboring gene uncharacterized LOC107000846 Neighboring gene uncharacterized LOC114670835 Neighboring gene transmembrane protein 106C Neighboring gene collagen type II alpha 1 chain

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Stop codon readthrough generates a C-terminally extended variant of the human vitamin D receptor with reduced calcitriol response. Loughran G, et al. J Biol Chem, 2018 Mar 23. PMID 29386352, Free PMC Article
    2. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
    3. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables nuclear receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables vitamin D response element binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    vitamin D3 receptor
    Names
    vitamin D (1,25- dihydroxyvitamin D3) receptor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001364129.2 → NP_001351058.2  vitamin D3 receptor isoform VDR

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (VDR) results from translation termination at the upstream UGA stop codon, while the longer isoform (VDRx) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the shorter isoform (VDR).
      Source sequence(s)
      QNVO02000060
      UniProtKB/TrEMBL
      A0A5F7ZFF3, A0A5F8AAQ9
      Related
      ENSMMUP00000074058.1, ENSMMUT00000106136.1
      Conserved Domains (2) summary
      cd06933
      Location:124 → 426
      NR_LBD_VDR; The ligand binding domain of vitamin D receptors, a member of the nuclear receptor superfamily
      cd06955
      Location:16 → 122
      NR_DBD_VDR; DNA-binding domain of vitamin D receptors (VDR) is composed of two C4-type zinc fingers

    2. NM_001364130.2 → NP_001351059.2  vitamin D3 receptor isoform VDRx

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (VDR) results from translation termination at the upstream UGA stop codon, while the longer isoform (VDRx) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the longer, C-terminally extended isoform (VDRx). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
      Source sequence(s)
      QNVO02000060
      UniProtKB/TrEMBL
      A0A5F7ZFF3
      Conserved Domains (2) summary
      cd06933
      Location:124 → 426
      NR_LBD_VDR; The ligand binding domain of vitamin D receptors, a member of the nuclear receptor superfamily
      cd06955
      Location:16 → 122
      NR_DBD_VDR; DNA-binding domain of vitamin D receptors (VDR) is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: Macaca mulatta Annotation Release 103 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference Mmul_10 Primary Assembly

    Genomic

    1. NC_041764.1 Reference Mmul_10 Primary Assembly

      Range
      47393584..47500079 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_028828893.1 → XP_028684726.1  vitamin D3 receptor isoform X1

      UniProtKB/TrEMBL
      A0A5F7ZFF3, A0A5F7ZXR3, A0A8J8XE76, G7N6T1
      Conserved Domains (2) summary
      cd06933
      Location:131 → 433
      NR_LBD_VDR; The ligand binding domain of vitamin D receptors, a member of the nuclear receptor superfamily
      cd06955
      Location:23 → 129
      NR_DBD_VDR; DNA-binding domain of vitamin D receptors (VDR) is composed of two C4-type zinc fingers

    2. XM_028828892.1 → XP_028684725.1  vitamin D3 receptor isoform X1

      UniProtKB/TrEMBL
      A0A5F7ZFF3, A0A5F7ZXR3, A0A8J8XE76, G7N6T1
      Related
      ENSMMUP00000069432.1, ENSMMUT00000107774.1
      Conserved Domains (2) summary
      cd06933
      Location:131 → 433
      NR_LBD_VDR; The ligand binding domain of vitamin D receptors, a member of the nuclear receptor superfamily
      cd06955
      Location:23 → 129
      NR_DBD_VDR; DNA-binding domain of vitamin D receptors (VDR) is composed of two C4-type zinc fingers

    3. XM_015151543.2 → XP_015007029.2  vitamin D3 receptor isoform X1

      UniProtKB/TrEMBL
      A0A5F7ZFF3, A0A5F7ZXR3, A0A8J8XE76, G7N6T1
      Related
      ENSMMUP00000063911.1, ENSMMUT00000082872.1
      Conserved Domains (2) summary
      cd06933
      Location:131 → 433
      NR_LBD_VDR; The ligand binding domain of vitamin D receptors, a member of the nuclear receptor superfamily
      cd06955
      Location:23 → 129
      NR_DBD_VDR; DNA-binding domain of vitamin D receptors (VDR) is composed of two C4-type zinc fingers
    Nucleotide Protein
    Heading Accession and Version

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