LOCUS       NM_000376               4616 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens vitamin D receptor (VDR), transcript variant 1, mRNA.
ACCESSION   NM_000376
VERSION     NM_000376.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4616)
  AUTHORS   Zhang,S., Liu,S., Zhu,Y., Geng,L. and Sun,L.
  TITLE     Association of Vitamin D receptor gene polymorphism with
            susceptibility and prognosis of Systemic Lupus Erythematosus in
            Chinese patients
  JOURNAL   Gene 933, 149004 (2025)
   PUBMED   39419237
  REMARK    GeneRIF: Association of Vitamin D receptor gene polymorphism with
            susceptibility and prognosis of Systemic Lupus Erythematosus in
            Chinese patients.
REFERENCE   2  (bases 1 to 4616)
  AUTHORS   Qin,X., Wang,M., Wang,L., Xu,Y. and Xiong,S.
  TITLE     Association of vitamin D receptor gene polymorphisms with caries
            risk in children: a systematic review and meta-analysis
  JOURNAL   BMC Pediatr 24 (1), 650 (2024)
   PUBMED   39394075
  REMARK    GeneRIF: Association of vitamin D receptor gene polymorphisms with
            caries risk in children: a systematic review and meta-analysis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4616)
  AUTHORS   Banerjee,P., Singh,H., Tiwari,P., Sood,A., Midha,V., Singh,G.,
            Thelma,B.K. and Senapati,S.
  TITLE     Assessment of the contribution of VDR and VDBP/GC genes in the
            pathogenesis of celiac disease
  JOURNAL   J Genet 103 (2024)
   PUBMED   39445578
  REMARK    GeneRIF: Assessment of the contribution of VDR and VDBP/GC genes in
            the pathogenesis of celiac disease.
REFERENCE   4  (bases 1 to 4616)
  AUTHORS   Loughran,G., Jungreis,I., Tzani,I., Power,M., Dmitriev,R.I.,
            Ivanov,I.P., Kellis,M. and Atkins,J.F.
  TITLE     Stop codon readthrough generates a C-terminally extended variant of
            the human vitamin D receptor with reduced calcitriol response
  JOURNAL   J Biol Chem 293 (12), 4434-4444 (2018)
   PUBMED   29386352
REFERENCE   5  (bases 1 to 4616)
  AUTHORS   Sunn,K.L., Cock,T.A., Crofts,L.A., Eisman,J.A. and Gardiner,E.M.
  TITLE     Novel N-terminal variant of human VDR
  JOURNAL   Mol Endocrinol 15 (9), 1599-1609 (2001)
   PUBMED   11518809
REFERENCE   6  (bases 1 to 4616)
  AUTHORS   Crofts,L.A., Hancock,M.S., Morrison,N.A. and Eisman,J.A.
  TITLE     Multiple promoters direct the tissue-specific expression of novel
            N-terminal variant human vitamin D receptor gene transcripts
  JOURNAL   Proc Natl Acad Sci U S A 95 (18), 10529-10534 (1998)
   PUBMED   9724737
REFERENCE   7  (bases 1 to 4616)
  AUTHORS   Miyamoto,K., Kesterson,R.A., Yamamoto,H., Taketani,Y.,
            Nishiwaki,E., Tatsumi,S., Inoue,Y., Morita,K., Takeda,E. and
            Pike,J.W.
  TITLE     Structural organization of the human vitamin D receptor chromosomal
            gene and its promoter
  JOURNAL   Mol Endocrinol 11 (8), 1165-1179 (1997)
   PUBMED   9212063
REFERENCE   8  (bases 1 to 4616)
  AUTHORS   Goto,H., Chen,K.S., Prahl,J.M. and DeLuca,H.F.
  TITLE     A single receptor identical with that from intestine/T47D cells
            mediates the action of 1,25-dihydroxyvitamin D-3 in HL-60 cells
  JOURNAL   Biochim Biophys Acta 1132 (1), 103-108 (1992)
   PUBMED   1324736
REFERENCE   9  (bases 1 to 4616)
  AUTHORS   Bugge,T.H., Pohl,J., Lonnoy,O. and Stunnenberg,H.G.
  TITLE     RXR alpha, a promiscuous partner of retinoic acid and thyroid
            hormone receptors
  JOURNAL   EMBO J 11 (4), 1409-1418 (1992)
   PUBMED   1314167
REFERENCE   10 (bases 1 to 4616)
  AUTHORS   Saijo,T., Ito,M., Takeda,E., Huq,A.H., Naito,E., Yokota,I.,
            Sone,T., Pike,J.W. and Kuroda,Y.
  TITLE     A unique mutation in the vitamin D receptor gene in three Japanese
            patients with vitamin D-dependent rickets type II: utility of
            single-strand conformation polymorphism analysis for heterozygous
            carrier detection
  JOURNAL   Am J Hum Genet 49 (3), 668-673 (1991)
   PUBMED   1652893
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CF138099.1, BC060832.1,
            AC004466.1, J03258.1, BM908433.1 and BQ002808.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_000376.2.
            
            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].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes two isoforms, which result from the use of
            alternative in-frame translation termination codons. The shorter
            isoform (VDRA, also known as VDR) results from translation
            termination at the upstream UGA stop codon, while the longer
            isoform (VDRAx, also known as VDRx) results from UGA stop codon
            readthrough to the downstream UGA termination codon. This RefSeq
            represents the shorter isoform (VDRA). Variants 1 and 2 encode the
            same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: J03258.1, AK225844.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000549336.6/ ENSP00000449573.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               CF138099.1         28-148
            122-3385            BC060832.1         522-3785
            3386-3386           AC004466.1         48367-48367
            3387-3509           BC060832.1         3787-3909
            3510-3529           J03258.1           3499-3518
            3530-3817           J03258.1           3520-3807
            3818-3869           J03258.1           3809-3860
            3870-3941           J03258.1           3862-3933
            3942-4366           BM908433.1         185-609
            4367-4578           J03258.1           4356-4567
            4579-4613           J03258.1           4569-4603
            4614-4616           BQ002808.1         17-19               c
FEATURES             Location/Qualifiers
     source          1..4616
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     gene            1..4616
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="vitamin D receptor"
                     /db_xref="GeneID:7421"
                     /db_xref="HGNC:HGNC:12679"
                     /db_xref="MIM:601769"
     exon            1..40
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            41..121
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            122..269
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..1407
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="isoform VDRA is encoded by transcript variant 1;
                     vitamin D3 receptor; vitamin D (1,25- dihydroxyvitamin D3)
                     receptor; 1,25-dihydroxyvitamin D3 receptor; nuclear
                     receptor subfamily 1 group I member 1; protein phosphatase
                     1, regulatory subunit 163"
                     /codon_start=1
                     /product="vitamin D3 receptor isoform VDRA"
                     /protein_id="NP_000367.1"
                     /db_xref="CCDS:CCDS8757.1"
                     /db_xref="GeneID:7421"
                     /db_xref="HGNC:HGNC:12679"
                     /db_xref="MIM:601769"
                     /translation="MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGC
                     KGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQR
                     KREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVN
                     DGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVT
                     LELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSN
                     ESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLM
                     AICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRS
                     LNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS"
     exon            270..400
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            401..585
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            586..706
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            707..878
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            879..1030
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1147
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..4616
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4594..4599
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="hexamer: AATAAA"
     polyA_site      4616
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="major polyA site"
ORIGIN      
        1 gggagcgcgg aacagcttgt ccacccgccg gccggaccag aagcctttgg gtctgaagtg
       61 tctgtgagac ctcacagaag agcacccctg ggctccactt acctgccccc tgctccttca
      121 gggatggagg caatggcggc cagcacttcc ctgcctgacc ctggagactt tgaccggaac
      181 gtgccccgga tctgtggggt gtgtggagac cgagccactg gctttcactt caatgctatg
      241 acctgtgaag gctgcaaagg cttcttcagg cgaagcatga agcggaaggc actattcacc
      301 tgccccttca acggggactg ccgcatcacc aaggacaacc gacgccactg ccaggcctgc
      361 cggctcaaac gctgtgtgga catcggcatg atgaaggagt tcattctgac agatgaggaa
      421 gtgcagagga agcgggagat gatcctgaag cggaaggagg aggaggcctt gaaggacagt
      481 ctgcggccca agctgtctga ggagcagcag cgcatcattg ccatactgct ggacgcccac
      541 cataagacct acgaccccac ctactccgac ttctgccagt tccggcctcc agttcgtgtg
      601 aatgatggtg gagggagcca tccttccagg cccaactcca gacacactcc cagcttctct
      661 ggggactcct cctcctcctg ctcagatcac tgtatcacct cttcagacat gatggactcg
      721 tccagcttct ccaatctgga tctgagtgaa gaagattcag atgacccttc tgtgacccta
      781 gagctgtccc agctctccat gctgccccac ctggctgacc tggtcagtta cagcatccaa
      841 aaggtcattg gctttgctaa gatgatacca ggattcagag acctcacctc tgaggaccag
      901 atcgtactgc tgaagtcaag tgccattgag gtcatcatgt tgcgctccaa tgagtccttc
      961 accatggacg acatgtcctg gacctgtggc aaccaagact acaagtaccg cgtcagtgac
     1021 gtgaccaaag ccggacacag cctggagctg attgagcccc tcatcaagtt ccaggtggga
     1081 ctgaagaagc tgaacttgca tgaggaggag catgtcctgc tcatggccat ctgcatcgtc
     1141 tccccagatc gtcctggggt gcaggacgcc gcgctgattg aggccatcca ggaccgcctg
     1201 tccaacacac tgcagacgta catccgctgc cgccacccgc ccccgggcag ccacctgctc
     1261 tatgccaaga tgatccagaa gctagccgac ctgcgcagcc tcaatgagga gcactccaag
     1321 cagtaccgct gcctctcctt ccagcctgag tgcagcatga agctaacgcc ccttgtgctc
     1381 gaagtgtttg gcaatgagat ctcctgacta ggacagcctg tggcggtgcc tgggtggggc
     1441 tgctcctcca gggccacgtg ccaggcccgg ggctggcggc tactcagcag ccctcctcac
     1501 cccgtctggg gttcagcccc tcctctgcca cctcccctat ccacccagcc cattctctct
     1561 cctgtccaac ctaacccctt tcctgcgggc ttttccccgg tcccttgaga cctcagccat
     1621 gaggagttgc tgtttgtttg acaaagaaac ccaagtgggg gcagagggca gaggctggag
     1681 gcagggcctt gcccagagat gcctccaccg ctgcctaagt ggctgctgac tgatgttgag
     1741 ggaacagaca ggagaaatgc atccattcct cagggacaga gacacctgca cctcccccca
     1801 ctgcaggccc cgcttgtcca gcgcctagtg gggtctccct ctcctgccta ctcacgataa
     1861 ataatcggcc cacagctccc accccacccc cttcagtgcc caccaacatc ccattgccct
     1921 ggttatattc tcacgggcag tagctgtggt gaggtgggtt ttcttcccat cactggagca
     1981 ccaggcacga acccacctgc tgagagaccc aaggaggaaa aacagacaaa aacagcctca
     2041 cagaagaata tgacagctgt ccctgtcacc aagctcacag ttcctcgccc tgggtctaag
     2101 gggttggttg aggtggaagc cctccttcca cggatccatg tagcaggact gaattgtccc
     2161 cagtttgcag aaaagcacct gccgacctcg tcctccccct gccagtgcct tacctcctgc
     2221 ccaggagagc cagccctccc tgtcctcctc ggatcaccga gagtagccga gagcctgctc
     2281 ccccaccccc tccccagggg agagggtctg gagaagcagt gagccgcatc ttctccatct
     2341 ggcagggtgg gatggaggag aagaattttc agaccccagc ggctgagtca tgatctccct
     2401 gccgcctcaa tgtggttgca aggccgctgt tcacccacag ggctaagagc tagcgctgcc
     2461 gcaccccaga gtgtgggaag ggagagcggg gcagtctcgg gtggctagtc agagagagtg
     2521 tttgggggtt ccgtgatgta gggtaaggtg ccttcttatt ctcactccac cacccaaaag
     2581 tcaaaaggtg cctgtgaggc aggggcggag tgatacaact tcaagtgcat gctctctgca
     2641 gccagcccag cccagctggt gggaagcgtc tgtccgttta ctccaaggtg gggtctttgt
     2701 gagagtgagc tgtaggtgtg cgggaccggt acagaaaggc gttcttcgag gtggatcaca
     2761 gaggcttctt cagatcagtg cttgagtttg gggaatgcgg ccgcattccc tgagtcacca
     2821 ggaatgttaa agtcagtggg aacgtgactg ccccaactcc tggaagctgt gtccttgcac
     2881 ctgcatccgt agttccctga aaacccagag aggaatcaga cttcacactg caagagcctt
     2941 ggtgtccacc tggccccatg tctctcagaa ttcttcaggt ggaaaaacat ctgaaagcca
     3001 cgttccttac tgcagaatag catatatatc gcttaatctt aaatttatta gatatgagtt
     3061 gttttcagac tcagactcca tttgtattat agtctaatat acagggtagc aggtaccact
     3121 gatttggaga tatttatggg gggagaactt acattgtgaa acttctgtac attaattatt
     3181 attgctgttg ttattttaca agggtctagg gagagaccct tgtttgattt tagctgcaga
     3241 acgtattggt ccagcttgct cttcagtggg agaaaacact tgtaagttgc taaacgagtc
     3301 aatcccctca ttcaggaaaa ctgacagagg agggcgtgac tcacccaagc atatataact
     3361 agctagaagt gggccaggac aggcccggcg cggtggctca cgcctgtaat cccagcagtt
     3421 tgggaggtcg aggtaggtgg atcacctgag gtcgggagtt cgagaccaac ctgaccaaca
     3481 tggagaaacc ctgtctctat taaaaataca aaaaaaaaaa aaaaaaaaat agccgggcat
     3541 ggtggcgcaa gcctgtaatc ccagctactc aggaggctga ggcagaagaa ttgaacccag
     3601 gaggtggagg ttgcagtgag ctgagatcgt gccgttactc tccaacctgg acaacaagag
     3661 cgaaactccg tcttagaagt ggaccaggac aggaccagat tttggagtca tggtccggtg
     3721 tccttttcac tacaccatgt ttgagctcag acccccactc tcattcccca ggtggctgac
     3781 ccagtccctg ggggaagccc tggatttcag aaagagcaag tctggatctg ggaccctttc
     3841 cttccttccc tggcttgtaa ctccaccaac ccatcagaag gagaaggaag gagactcacc
     3901 tctgcctcaa tgtgaatcag accctacccc accacgatgt ggccctggcc tgctgggctc
     3961 tccacctcag ccttggataa tgctgttgcc tcatctataa catgcatttg tctttgtaat
     4021 gtcaccacct tcccagctct ccctctggcc ctgccttctt cggggaactc ctggaaatat
     4081 cagttactca gccctgggcc ccaccaccta ggccactcct ccaaaggaag tctaggagct
     4141 gggaggaaaa gaaaagaggg gaaaatgagt ttttatgggg ctgaacgggg agaaaaggtc
     4201 atcatcgatt ctactttaga atgagagtgt gaaatagaca tttgtaaatg taaaactttt
     4261 aaggtatatc attataactg aaggagaagg tgccccaaaa tgcaagattt tccacaagat
     4321 tcccagagac aggaaaatcc tctggctggc taactggaag catgtaggag aatccaagcg
     4381 aggtcaacag agaaggcagg aatgtgtggc agatttagtg aaagctagag atatggcagc
     4441 gaaaggatgt aaacagtgcc tgctgaatga tttccaaaga gaaaaaaagt ttgccagaag
     4501 tttgtcaagt caaccaatgt agaaagcttt gcttatggta ataaaaatgg ctcatactta
     4561 tatagcactt actttgttgc aagtactgct gtaaataaat gctttatgca aaccaa
//
