LOCUS       NM_000475               1813 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens nuclear receptor subfamily 0 group B member 1 (NR0B1),
            mRNA.
ACCESSION   NM_000475
VERSION     NM_000475.5
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 1813)
  AUTHORS   Tan,X.L., Wang,Z., Liao,S., Yi,M., Tao,D., Zhang,X., Leng,X.,
            Shi,J., Xie,S., Yang,Y. and Liu,Y.Q.
  TITLE     NR0B1 augments sorafenib resistance in hepatocellular carcinoma
            through promoting autophagy and inhibiting apoptosis
  JOURNAL   Cancer Sci 115 (2), 465-476 (2024)
   PUBMED   37991109
  REMARK    GeneRIF: NR0B1 augments sorafenib resistance in hepatocellular
            carcinoma through promoting autophagy and inhibiting apoptosis.
REFERENCE   2  (bases 1 to 1813)
  AUTHORS   Jiang,Y., Peng,H., Zhao,R., Chang,Y., Liu,J., Fu,L., Li,L., Ma,Y.,
            Li,W. and Jiang,H.
  TITLE     New insights into X-linked adrenal hypoplasia congenita from a
            novel splice-site variant of NR0B1 and adrenal CT images
  JOURNAL   Mol Genet Genomic Med 11 (6), e2171 (2023)
   PUBMED   37118935
  REMARK    GeneRIF: New insights into X-linked adrenal hypoplasia congenita
            from a novel splice-site variant of NR0B1 and adrenal CT images.
REFERENCE   3  (bases 1 to 1813)
  AUTHORS   Ota,T., Katsumata,N., Naiki,Y. and Horikawa,R.
  TITLE     Novel non-stop variant of the NR0B1 gene in two siblings with
            adrenal hypoplasia congenita
  JOURNAL   J Pediatr Endocrinol Metab 35 (9), 1189-1193 (2022)
   PUBMED   35848959
  REMARK    GeneRIF: Novel non-stop variant of the NR0B1 gene in two siblings
            with adrenal hypoplasia congenita.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1813)
  AUTHORS   Gupta,P., Sharma,R. and Jain,V.
  TITLE     Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome
            Due to NR0B1 Gene Mutations
  JOURNAL   Indian J Pediatr 89 (6), 587-590 (2022)
   PUBMED   35230670
  REMARK    GeneRIF: Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism
            Syndrome Due to NR0B1 Gene Mutations.
REFERENCE   5  (bases 1 to 1813)
  AUTHORS   Burris,T.P., Guo,W., Le,T. and McCabe,E.R.
  TITLE     Identification of a putative steroidogenic factor-1 response
            element in the DAX-1 promoter
  JOURNAL   Biochem Biophys Res Commun 214 (2), 576-581 (1995)
   PUBMED   7677767
REFERENCE   6  (bases 1 to 1813)
  AUTHORS   Mohnach,L., Fechner,P.Y. and Keegan,C.E.
  TITLE     Nonsyndromic Disorders of Testicular Development Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301714
REFERENCE   7  (bases 1 to 1813)
  AUTHORS   Achermann,J.C. and Vilain,E.J.
  TITLE     NR0B1-Related Adrenal Hypoplasia Congenita
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301604
REFERENCE   8  (bases 1 to 1813)
  AUTHORS   Walker,A.P., Chelly,J., Love,D.R., Brush,Y.I., Recan,D.,
            Chaussain,J.L., Oley,C.A., Connor,J.M., Yates,J., Price,D.A. et al.
  TITLE     A YAC contig in Xp21 containing the adrenal hypoplasia congenita
            and glycerol kinase deficiency genes
  JOURNAL   Hum Mol Genet 1 (8), 579-585 (1992)
   PUBMED   1301166
REFERENCE   9  (bases 1 to 1813)
  AUTHORS   Worley,K.C., Towbin,J.A., Zhu,X.M., Barker,D.F., Ballabio,A.,
            Chamberlain,J., Biesecker,L.G., Blethen,S.L., Brosnan,P., Fox,J.E.
            et al.
  TITLE     Identification of new markers in Xp21 between DXS28 (C7) and DMD
  JOURNAL   Genomics 13 (4), 957-961 (1992)
   PUBMED   1505987
REFERENCE   10 (bases 1 to 1813)
  AUTHORS   Petersen,K.E., Bille,T., Jacobsen,B.B. and Iversen,T.
  TITLE     X-linked congenital adrenal hypoplasia. A study of five generations
            of a Greenlandic Family
  JOURNAL   Acta Paediatr Scand 71 (6), 947-951 (1982)
   PUBMED   6891556
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005926.1, BI772108.1,
            BC011564.1, AW612655.1 and AC005185.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000475.4.
            
            Summary: This gene encodes a protein that contains a DNA-binding
            domain. The encoded protein acts as a dominant-negative regulator
            of transcription which is mediated by the retinoic acid receptor.
            This protein also functions as an anti-testis gene by acting
            antagonistically to Sry. Mutations in this gene result in both
            X-linked congenital adrenal hypoplasia and hypogonadotropic
            hypogonadism. [provided by RefSeq, Jul 2008].
            
            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 :: S74720.1, BC011564.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378970.5/ ENSP00000368253.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC005926.1         3310-3321           c
            13-15               BI772108.1         1-3
            16-1551             BC011564.1         1-1536
            1552-1597           AW612655.1         7-52                c
            1598-1813           AC005185.1         122377-122592       c
FEATURES             Location/Qualifiers
     source          1..1813
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.2"
     gene            1..1813
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="nuclear receptor subfamily 0 group B member 1"
                     /db_xref="GeneID:190"
                     /db_xref="HGNC:HGNC:7960"
                     /db_xref="MIM:300473"
     exon            1..1195
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..1440
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="nuclear hormone receptor; nuclear receptor DAX-1;
                     DSS-AHC critical region on the X chromosome protein 1"
                     /codon_start=1
                     /product="nuclear receptor subfamily 0 group B member 1"
                     /protein_id="NP_000466.2"
                     /db_xref="CCDS:CCDS14223.1"
                     /db_xref="GeneID:190"
                     /db_xref="HGNC:HGNC:7960"
                     /db_xref="MIM:300473"
                     /translation="MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCG
                     DEPGVGREGLLGGRNVALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEATLG
                     PCWGCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAP
                     AAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPT
                     STNQAQAAPEERPRAPWWDTSSGALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQ
                     VLPLDQQLVLVRNCWASLLMLELAQDRLQFETVEVSEPSMLQKILTTRRRETGGNEPL
                     PVPTLQHHLAPPAEARKVPSASQVQAIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVP
                     GLQCVKYIQGLQWGTQQILSEHTRMTHQGPHDRFIELNSTLFLLRFINANVIAELFFR
                     PIIGTVSMDDMMLEMLCTKI"
     exon            1196..1813
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1529..1534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="hexamer: AATAAA"
     polyA_site      1551
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="major polyA site"
ORIGIN      
        1 agaactgggc tacgggcgcc gcgggccatg gcgggcgaga accaccagtg gcagggcagc
       61 atcctctaca acatgcttat gagcgcgaag caaacgcgcg cggctcctga ggctccagag
      121 acgcggctgg tggatcagtg ctggggctgt tcgtgcggcg atgagcccgg ggtgggcaga
      181 gaggggctgc tgggcgggcg gaacgtggcg ctcctgtacc gctgctgctt ttgcggtaaa
      241 gaccacccac ggcagggcag catcctctac agcatgctga cgagcgcaaa gcaaacgtac
      301 gcggcaccga aggcgcccga ggcgacgctg ggtccgtgct ggggctgttc gtgcggctct
      361 gatcccgggg tgggcagagc ggggcttccg ggtgggcggc ccgtggcact cctgtaccgc
      421 tgctgctttt gtggtgaaga ccacccgcgg cagggcagca tcctctacag cttgctcact
      481 agctcaaagc aaacgcacgt ggctccggca gcgcccgagg cacggccagg gggcgcgtgg
      541 tgggaccgct cctacttcgc gcagaggcca gggggtaaag aggcgctacc aggcgggcgg
      601 gccacggcgc ttctgtaccg ctgctgcttt tgcggtgaag accacccgca gcagggcagc
      661 accctctact gcgtgcccac gagcacaaat caagcgcagg cggctccgga ggagcggccg
      721 agggccccct ggtgggacac ctcctctggt gcgctgcggc cggtggcgct caagagtcca
      781 caggtggtct gcgaggcagc ctcagcgggc ctgttgaaga cgctgcgctt cgtcaagtac
      841 ttgccctgct tccaggtgct gcccctggac cagcagctgg tgctggtgcg caactgctgg
      901 gcgtccctgc tcatgcttga gctggcccag gaccgcttgc agttcgagac tgtggaagtc
      961 tcggagccca gcatgctgca gaagatcctc accaccaggc ggcgggagac cgggggcaac
     1021 gagccactgc ccgtgcccac gctgcagcac catttggcac cgccggcgga ggccaggaag
     1081 gtgccctccg cctcccaggt ccaagccatc aagtgctttc tttccaaatg ctggagtctg
     1141 aacatcagta ccaaggagta cgcctacctc aaggggaccg tgctctttaa cccggacgtg
     1201 ccgggcctgc agtgcgtgaa gtacattcag ggactccagt ggggaactca gcaaatactc
     1261 agtgaacaca ccaggatgac gcaccaaggg ccccatgaca gattcatcga acttaatagt
     1321 acccttttcc tgctgagatt catcaatgcc aatgtcattg ctgaactgtt cttcaggccc
     1381 atcatcggca cagtcagcat ggatgatatg atgctggaaa tgctctgtac aaagatataa
     1441 agtcatgtgg gccacacaag tgcagtagtg cagttcacca tgagggaaga ataaagagct
     1501 gtgggcaaaa gagtgtaaaa tattttaaaa taaactttct taatattttt acatgcagag
     1561 tatttttgta ttcaattaaa gaaataattt tattccagac agtcacaaat ttctctgttc
     1621 catagttaaa gaagacattt gccaacaggt agcatagctc tgtacatctt ttaaaaaaaa
     1681 aatagcaggg tactagtata ataagctatt ttcacaagtg tagcaatttc atggaacctg
     1741 ctcaaatcaa atttgtacat attgttataa taaattttaa ggtcttaact attaacttga
     1801 ttgaaaaaag ctt
//
