LOCUS       NM_001374661            5048 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens vitamin D receptor (VDR), transcript variant 4, mRNA.
ACCESSION   NM_001374661
VERSION     NM_001374661.1
KEYWORDS    RefSeq.
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 5048)
  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 5048)
  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 5048)
  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 5048)
  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 5048)
  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 5048)
  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 5048)
  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 5048)
  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 5048)
  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 5048)
  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 AC121338.6 and AC004466.1.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR14038196.1872734.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-431               AC121338.6         15427-15857         c
            432-553             AC121338.6         10700-10821         c
            554-701             AC004466.1         12019-12166
            702-832             AC004466.1         25957-26087
            833-1017            AC004466.1         33446-33630
            1018-1138           AC004466.1         33885-34005
            1139-1310           AC004466.1         35333-35504
            1311-1462           AC004466.1         44326-44477
            1463-1579           AC004466.1         44683-44799
            1580-5048           AC004466.1         46129-49597
FEATURES             Location/Qualifiers
     source          1..5048
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     gene            1..5048
                     /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..431
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            432..553
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            554..701
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     CDS             556..1839
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="isoform VDRA is encoded by transcript variant 4;
                     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_001361590.1"
                     /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            702..832
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            833..1017
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1138
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1310
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            1311..1462
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1579
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     exon            1580..5048
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5026..5031
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="hexamer: AATAAA"
     polyA_site      5048
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="major polyA site"
ORIGIN      
        1 gggagcgcgg aacagcttgt ccacccgccg gccggaccag gtgcgaaccc gggagcagcg
       61 ggaaaggggg tctcaggata gggactcggg gtcggggcgt ctgggatacc ggggcctgag
      121 cgcccggctg cgagcattag agtctaagtc tcagcggtaa acttggctac tgaggtccgg
      181 gctgtcgtgc catgaggctg ggacactaag gggcactgag gtttgagaaa gctgaagttc
      241 gtgccaggct ggcgagggga gcagcgacat cctcggcgct taggagaaat gctccgctaa
      301 cacagtgctt agcacttggg caacaagaag tatttgtttc cttcttctgt cggggcgcct
      361 tggcatggag tggaggaata agaaaaggag cgattggctg tcgatggtgc tcagaactgc
      421 tggagtggag gggctcctga acctagccca gctggacgga gaaatggact ctagcctcct
      481 ctgatagcct catgccaggc cccgtgcaca ttgctttgct tgcctccctc aatcctcata
      541 gcttctcttt gggggatgga ggcaatggcg gccagcactt ccctgcctga ccctggagac
      601 tttgaccgga acgtgccccg gatctgtggg gtgtgtggag accgagccac tggctttcac
      661 ttcaatgcta tgacctgtga aggctgcaaa ggcttcttca ggcgaagcat gaagcggaag
      721 gcactattca cctgcccctt caacggggac tgccgcatca ccaaggacaa ccgacgccac
      781 tgccaggcct gccggctcaa acgctgtgtg gacatcggca tgatgaagga gttcattctg
      841 acagatgagg aagtgcagag gaagcgggag atgatcctga agcggaagga ggaggaggcc
      901 ttgaaggaca gtctgcggcc caagctgtct gaggagcagc agcgcatcat tgccatactg
      961 ctggacgccc accataagac ctacgacccc acctactccg acttctgcca gttccggcct
     1021 ccagttcgtg tgaatgatgg tggagggagc catccttcca ggcccaactc cagacacact
     1081 cccagcttct ctggggactc ctcctcctcc tgctcagatc actgtatcac ctcttcagac
     1141 atgatggact cgtccagctt ctccaatctg gatctgagtg aagaagattc agatgaccct
     1201 tctgtgaccc tagagctgtc ccagctctcc atgctgcccc acctggctga cctggtcagt
     1261 tacagcatcc aaaaggtcat tggctttgct aagatgatac caggattcag agacctcacc
     1321 tctgaggacc agatcgtact gctgaagtca agtgccattg aggtcatcat gttgcgctcc
     1381 aatgagtcct tcaccatgga cgacatgtcc tggacctgtg gcaaccaaga ctacaagtac
     1441 cgcgtcagtg acgtgaccaa agccggacac agcctggagc tgattgagcc cctcatcaag
     1501 ttccaggtgg gactgaagaa gctgaacttg catgaggagg agcatgtcct gctcatggcc
     1561 atctgcatcg tctccccaga tcgtcctggg gtgcaggacg ccgcgctgat tgaggccatc
     1621 caggaccgcc tgtccaacac actgcagacg tacatccgct gccgccaccc gcccccgggc
     1681 agccacctgc tctatgccaa gatgatccag aagctagccg acctgcgcag cctcaatgag
     1741 gagcactcca agcagtaccg ctgcctctcc ttccagcctg agtgcagcat gaagctaacg
     1801 ccccttgtgc tcgaagtgtt tggcaatgag atctcctgac taggacagcc tgtggcggtg
     1861 cctgggtggg gctgctcctc cagggccacg tgccaggccc ggggctggcg gctactcagc
     1921 agccctcctc accccgtctg gggttcagcc cctcctctgc cacctcccct atccacccag
     1981 cccattctct ctcctgtcca acctaacccc tttcctgcgg gcttttcccc ggtcccttga
     2041 gacctcagcc atgaggagtt gctgtttgtt tgacaaagaa acccaagtgg gggcagaggg
     2101 cagaggctgg aggcagggcc ttgcccagag atgcctccac cgctgcctaa gtggctgctg
     2161 actgatgttg agggaacaga caggagaaat gcatccattc ctcagggaca gagacacctg
     2221 cacctccccc cactgcaggc cccgcttgtc cagcgcctag tggggtctcc ctctcctgcc
     2281 tactcacgat aaataatcgg cccacagctc ccaccccacc cccttcagtg cccaccaaca
     2341 tcccattgcc ctggttatat tctcacgggc agtagctgtg gtgaggtggg ttttcttccc
     2401 atcactggag caccaggcac gaacccacct gctgagagac ccaaggagga aaaacagaca
     2461 aaaacagcct cacagaagaa tatgacagct gtccctgtca ccaagctcac agttcctcgc
     2521 cctgggtcta aggggttggt tgaggtggaa gccctccttc cacggatcca tgtagcagga
     2581 ctgaattgtc cccagtttgc agaaaagcac ctgccgacct cgtcctcccc ctgccagtgc
     2641 cttacctcct gcccaggaga gccagccctc cctgtcctcc tcggatcacc gagagtagcc
     2701 gagagcctgc tcccccaccc cctccccagg ggagagggtc tggagaagca gtgagccgca
     2761 tcttctccat ctggcagggt gggatggagg agaagaattt tcagacccca gcggctgagt
     2821 catgatctcc ctgccgcctc aatgtggttg caaggccgct gttcacccac agggctaaga
     2881 gctagcgctg ccgcacccca gagtgtggga agggagagcg gggcagtctc gggtggctag
     2941 tcagagagag tgtttggggg ttccgtgatg tagggtaagg tgccttctta ttctcactcc
     3001 accacccaaa agtcaaaagg tgcctgtgag gcaggggcgg agtgatacaa cttcaagtgc
     3061 atgctctctg cagccagccc agcccagctg gtgggaagcg tctgtccgtt tactccaagg
     3121 tggggtcttt gtgagagtga gctgtaggtg tgcgggaccg gtacagaaag gcgttcttcg
     3181 aggtggatca cagaggcttc ttcagatcag tgcttgagtt tggggaatgc ggccgcattc
     3241 cctgagtcac caggaatgtt aaagtcagtg ggaacgtgac tgccccaact cctggaagct
     3301 gtgtccttgc acctgcatcc gtagttccct gaaaacccag agaggaatca gacttcacac
     3361 tgcaagagcc ttggtgtcca cctggcccca tgtctctcag aattcttcag gtggaaaaac
     3421 atctgaaagc cacgttcctt actgcagaat agcatatata tcgcttaatc ttaaatttat
     3481 tagatatgag ttgttttcag actcagactc catttgtatt atagtctaat atacagggta
     3541 gcaggtacca ctgatttgga gatatttatg gggggagaac ttacattgtg aaacttctgt
     3601 acattaatta ttattgctgt tgttatttta caagggtcta gggagagacc cttgtttgat
     3661 tttagctgca gaacgtattg gtccagcttg ctcttcagtg ggagaaaaca cttgtaagtt
     3721 gctaaacgag tcaatcccct cattcaggaa aactgacaga ggagggcgtg actcacccaa
     3781 gcatatataa ctagctagaa gtgggccagg acaggcccgg cgcggtggct cacgcctgta
     3841 atcccagcag tttgggaggt cgaggtaggt ggatcacctg aggtcgggag ttcgagacca
     3901 acctgaccaa catggagaaa ccctgtctct attaaaaata caaaaaaaaa aaaaaaaaaa
     3961 atagccgggc atggtggcgc aagcctgtaa tcccagctac tcaggaggct gaggcagaag
     4021 aattgaaccc aggaggtgga ggttgcagtg agctgagatc gtgccgttac tctccaacct
     4081 ggacaacaag agcgaaactc cgtcttagaa gtggaccagg acaggaccag attttggagt
     4141 catggtccgg tgtccttttc actacaccat gtttgagctc agacccccac tctcattccc
     4201 caggtggctg acccagtccc tgggggaagc cctggatttc agaaagagca agtctggatc
     4261 tgggaccctt tccttccttc cctggcttgt aactccacca acccatcaga aggagaagga
     4321 aggagactca cctctgcctc aatgtgaatc agaccctacc ccaccacgat gtggccctgg
     4381 cctgctgggc tctccacctc agccttggat aatgctgttg cctcatctat aacatgcatt
     4441 tgtctttgta atgtcaccac cttcccagct ctccctctgg ccctgccttc ttcggggaac
     4501 tcctggaaat atcagttact cagccctggg ccccaccacc taggccactc ctccaaagga
     4561 agtctaggag ctgggaggaa aagaaaagag gggaaaatga gtttttatgg ggctgaacgg
     4621 ggagaaaagg tcatcatcga ttctacttta gaatgagagt gtgaaataga catttgtaaa
     4681 tgtaaaactt ttaaggtata tcattataac tgaaggagaa ggtgccccaa aatgcaagat
     4741 tttccacaag attcccagag acaggaaaat cctctggctg gctaactgga agcatgtagg
     4801 agaatccaag cgaggtcaac agagaaggca ggaatgtgtg gcagatttag tgaaagctag
     4861 agatatggca gcgaaaggat gtaaacagtg cctgctgaat gatttccaaa gagaaaaaaa
     4921 gtttgccaga agtttgtcaa gtcaaccaat gtagaaagct ttgcttatgg taataaaaat
     4981 ggctcatact tatatagcac ttactttgtt gcaagtactg ctgtaaataa atgctttatg
     5041 caaaccaa
//
