LOCUS       NM_001206979            2739 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens nuclear receptor subfamily 1 group H member 4 (NR1H4),
            transcript variant 1, mRNA.
ACCESSION   NM_001206979
VERSION     NM_001206979.2
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 2739)
  AUTHORS   Buchynskyi,M., Oksenych,V., Kamyshna,I., Vorobets,I., Halabitska,I.
            and Kamyshnyi,O.
  TITLE     Modulatory Roles of AHR, FFAR2, FXR, and TGR5 Gene Expression in
            Metabolic-Associated Fatty Liver Disease and COVID-19 Outcomes
  JOURNAL   Viruses 16 (6), 985 (2024)
   PUBMED   38932276
  REMARK    GeneRIF: Modulatory Roles of AHR, FFAR2, FXR, and TGR5 Gene
            Expression in Metabolic-Associated Fatty Liver Disease and COVID-19
            Outcomes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2739)
  AUTHORS   Qin,X., Tan,Y., Ren,W., Zhou,W., Niu,R., Liang,L., Li,J., Cao,K.,
            Wei,G., Zhu,X. and Huang,M.
  TITLE     Elevated expression of LCN13 through FXR activation ameliorates
            hepatocellular lipid accumulation and inflammation
  JOURNAL   Int Immunopharmacol 131, 111812 (2024)
   PUBMED   38493698
  REMARK    GeneRIF: Elevated expression of LCN13 through FXR activation
            ameliorates hepatocellular lipid accumulation and inflammation.
REFERENCE   3  (bases 1 to 2739)
  AUTHORS   Li,Z.D., Li,Y.C., Jing-Zhao, Wang,J.S. and Xie,X.B.
  TITLE     NR1H4 disease: rapidly progressing neonatal intrahepatic
            cholestasis and early death
  JOURNAL   Orphanet J Rare Dis 19 (1), 171 (2024)
   PUBMED   38641832
  REMARK    GeneRIF: NR1H4 disease: rapidly progressing neonatal intrahepatic
            cholestasis and early death.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2739)
  AUTHORS   Li,L., Kong,L., Xu,S., Wang,C., Gu,J., Luo,H. and Meng,Q.
  TITLE     FXR overexpression prevents hepatic steatosis through inhibiting
            AIM2 inflammasome activation in alcoholic liver disease
  JOURNAL   Hepatol Int 18 (1), 188-205 (2024)
   PUBMED   38183609
  REMARK    GeneRIF: FXR overexpression prevents hepatic steatosis through
            inhibiting AIM2 inflammasome activation in alcoholic liver disease.
REFERENCE   5  (bases 1 to 2739)
  AUTHORS   Huber,R.M., Murphy,K., Miao,B., Link,J.R., Cunningham,M.R.,
            Rupar,M.J., Gunyuzlu,P.L., Haws,T.F., Kassam,A., Powell,F.,
            Hollis,G.F., Young,P.R., Mukherjee,R. and Burn,T.C.
  TITLE     Generation of multiple farnesoid-X-receptor isoforms through the
            use of alternative promoters
  JOURNAL   Gene 290 (1-2), 35-43 (2002)
   PUBMED   12062799
REFERENCE   6  (bases 1 to 2739)
  AUTHORS   Zavacki,A.M., Lehmann,J.M., Seol,W., Willson,T.M., Kliewer,S.A. and
            Moore,D.D.
  TITLE     Activation of the orphan receptor RIP14 by retinoids
  JOURNAL   Proc Natl Acad Sci U S A 94 (15), 7909-7914 (1997)
   PUBMED   9223286
REFERENCE   7  (bases 1 to 2739)
  AUTHORS   Kozak,C.A., Adamson,M.C. and Weinberger,C.
  TITLE     Genetic mapping of gene encoding the farnesoid receptor, Fxr, to
            mouse Chromosome 10
  JOURNAL   Mamm Genome 7 (2), 164-165 (1996)
   PUBMED   8835541
REFERENCE   8  (bases 1 to 2739)
  AUTHORS   Forman,B.M., Goode,E., Chen,J., Oro,A.E., Bradley,D.J.,
            Perlmann,T., Noonan,D.J., Burka,L.T., McMorris,T., Lamph,W.W.,
            Evans,R.M. and Weinberger,C.
  TITLE     Identification of a nuclear receptor that is activated by farnesol
            metabolites
  JOURNAL   Cell 81 (5), 687-693 (1995)
   PUBMED   7774010
REFERENCE   9  (bases 1 to 2739)
  AUTHORS   Seol,W., Choi,H.S. and Moore,D.D.
  TITLE     Isolation of proteins that interact specifically with the retinoid
            X receptor: two novel orphan receptors
  JOURNAL   Mol Endocrinol 9 (1), 72-85 (1995)
   PUBMED   7760852
REFERENCE   10 (bases 1 to 2739)
  AUTHORS   Amendola,M. and Squires,J.E.
  TITLE     Pediatric Genetic Cholestatic Liver Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36108118
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA011411.1, BC130573.1,
            BC035654.1 and AC010200.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001206979.1.
            
            Summary: This gene encodes a ligand-activated transcription factor
            that shares structural features in common with nuclear hormone
            receptor family members. This protein functions as a receptor for
            bile acids, and when bound to bile acids, binds to DNA and
            regulates the expression of genes involved in bile acid synthesis
            and transport. Alternatively spliced transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Feb
            2016].
            
            Transcript Variant: This variant (1) encodes isoform 1 (also known
            as FXRalpha+). Variants 1 and 6 encode the same isoform (1).
            
            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 :: SRR5189664.162103.1,
                                           SRR5189664.156931.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392986.8/ ENSP00000376712.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                DA011411.1         94-143
            51-1828             BC130573.1         1-1778
            1829-2192           BC035654.1         1887-2250
            2193-2739           AC010200.8         45221-45767         c
FEATURES             Location/Qualifiers
     source          1..2739
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..2739
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /note="nuclear receptor subfamily 1 group H member 4"
                     /db_xref="GeneID:9971"
                     /db_xref="HGNC:HGNC:7967"
                     /db_xref="MIM:603826"
     exon            1..194
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            195..329
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            330..462
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     CDS             384..1814
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /note="isoform 1 is encoded by transcript variant 1; bile
                     acid receptor; farnesoid X nuclear receptor; farnesol
                     receptor HRR-1; RXR-interacting protein 14; farnesoid
                     X-activated receptor; retinoid X receptor-interacting
                     protein 14"
                     /codon_start=1
                     /product="bile acid receptor isoform 1"
                     /protein_id="NP_001193908.1"
                     /db_xref="CCDS:CCDS55873.1"
                     /db_xref="GeneID:9971"
                     /db_xref="HGNC:HGNC:7967"
                     /db_xref="MIM:603826"
                     /translation="MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVE
                     PYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEWYSPGIYELRRMPAETLYQGETE
                     VAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAV
                     YKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQ
                     HADQTVNEDSEGRDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNK
                     ILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFL
                     RSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAI
                     VILSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHH
                     HAEMLMSWRVNDHKFTPLLCEIWDVQ"
     exon            463..828
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            829..981
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1115
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1214
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1314
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..1461
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1575
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..2739
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2166..2171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /note="hexamer: AATAAA"
     polyA_site      2192
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /note="major polyA site"
     regulatory      2717..2722
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
                     /note="hexamer: AATAAA"
     polyA_site      2739
                     /gene="NR1H4"
                     /gene_synonym="BAR; FXR; HRR-1; HRR1; PFIC5; RIP14"
ORIGIN      
        1 agaaggccgc ctgtgatcat gcacagtaca ctggaactct ctcctcctcc tcacctcatt
       61 gtctccccga cttatcctaa tgcgaaattg gattctgagc atttgtagca aaatcgctgg
      121 gatctggaga ggaagactca gtccagaatc ctcccagggc cttgaaagtc catctctgac
      181 ccaaaacaat ccaaggaggt agaagacatc gtagaaggag tgaaagaaga aaagaagact
      241 tagaaacata gctcaaagtg aacactgctt ctcttagttt cctggatttc ttctggacat
      301 ttcctcaaga tgaaacttca gacactttgg agtttttttt gaagaccacc ataaagaaag
      361 tgcatttcaa ttgaaaaatt tggatgggat caaaaatgaa tctcattgaa cattcccatt
      421 tacctaccac agatgaattt tctttttctg aaaatttatt tggtgtttta acagaacaag
      481 tggcaggtcc tctgggacag aacctggaag tggaaccata ctcgcaatac agcaatgttc
      541 agtttcccca agttcaacca cagatttcct cgtcatccta ttattccaac ctgggtttct
      601 acccccagca gcctgaagag tggtactctc ctggaatata tgaactcagg cgtatgccag
      661 ctgagactct ctaccaggga gaaactgagg tagcagagat gcctgtaaca aagaagcccc
      721 gcatgggcgc gtcagcaggg aggatcaaag gggatgagct gtgtgttgtt tgtggagaca
      781 gagcctctgg ataccactat aatgcactga cctgtgaggg gtgtaaaggt ttcttcagga
      841 gaagcattac caaaaacgct gtgtacaagt gtaaaaacgg gggcaactgt gtgatggata
      901 tgtacatgcg aagaaagtgt caagagtgtc gactaaggaa atgcaaagag atgggaatgt
      961 tggctgaatg tatgtataca ggcttgttaa ctgaaattca gtgtaaatct aagcgactga
     1021 gaaaaaatgt gaagcagcat gcagatcaga ccgtgaatga agacagtgaa ggtcgtgact
     1081 tgcgacaagt gacctcgaca acaaagtcat gcagggagaa aactgaactc accccagatc
     1141 aacagactct tctacatttt attatggatt catataacaa acagaggatg cctcaggaaa
     1201 taacaaataa aattttaaaa gaagaattca gtgcagaaga aaattttctc attttgacgg
     1261 aaatggcaac caatcatgta caggttcttg tagaattcac aaaaaagcta ccaggatttc
     1321 agactttgga ccatgaagac cagattgctt tgctgaaagg gtctgcggtt gaagctatgt
     1381 tccttcgttc agctgagatt ttcaataaga aacttccgtc tgggcattct gacctattgg
     1441 aagaaagaat tcgaaatagt ggtatctctg atgaatatat aacacctatg tttagttttt
     1501 ataaaagtat tggggaactg aaaatgactc aagaggagta tgctctgctt acagcaattg
     1561 ttatcctgtc tccagataga caatacataa aggatagaga ggcagtagag aagcttcagg
     1621 agccacttct tgatgtgcta caaaagttgt gtaagattca ccagcctgaa aatcctcaac
     1681 actttgcctg tctcctgggt cgcctgactg aattacggac attcaatcat caccacgctg
     1741 agatgctgat gtcatggaga gtaaacgacc acaagtttac cccacttctc tgtgaaatct
     1801 gggacgtgca gtgatgggga ttacagggga ggggtctagc tcctttttct ctctcatatt
     1861 aatctgatgt ataactttcc tttatttcac ttgtacccag tttcactcaa gaaatcttga
     1921 tgaatattta tgttgtaatt acatgtgtaa cttccacaac tgtaaatatt gggctagata
     1981 gaacaacttt ctctacattg tgttttaaaa ggctccaggg aatcctgcat tctaattggc
     2041 aagccctgtt tgcctaatta aattgattgt tacttcaatt ctatctgttg aactagggaa
     2101 aatctcattt tgctcatctt accatattgc atatatttta ttaaagagtt gtattcaatc
     2161 ttggcaataa agcaaacata atggcaacag gattttcttt gggaacaaaa tttgataaat
     2221 atacaaactc atttctttaa atgttgaaag acatcctatt gaatctgagg gggtaattta
     2281 cagaaagata ctgtctctcg cacttttgtc atctctggaa aagtcctggt gaatagtcat
     2341 tcatttgtaa tagccctctg atcatttcct tttctttgaa gttcaaagag aatagcaaac
     2401 agaaaagtta acaattttca cataaaatat tccctcaagc aatcctttcc cccatagtta
     2461 gtcttgaggc aggattcaca aattcagagt atgcagctaa ctgcagtgat gggaccttcg
     2521 ctttcctctc ttaaaagtga ggaaatgatt ggcttcattg tatccaatca tctttctgtt
     2581 ttgttttgct tttgaaaaca ttcctacagc tgggagcaca gctgctgtat acttccccca
     2641 aagcaggaat tagttcattt ccttccttca ttgttacact gttgcattct tctccctatt
     2701 atcctttggt gaatacaata aaacaccttc tataagtaa
//
