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P51843

- NR0B1_HUMAN

UniProt

P51843 - NR0B1_HUMAN

Protein

Nuclear receptor subfamily 0 group B member 1

Gene

NR0B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 2 (10 May 2002)
      Previous versions | rss
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    Functioni

    Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency By similarity.By similarity

    GO - Molecular functioni

    1. AF-2 domain binding Source: UniProtKB
    2. DNA binding Source: HGNC
    3. DNA hairpin binding Source: HGNC
    4. ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity Source: UniProtKB
    5. protein binding Source: UniProtKB
    6. protein domain specific binding Source: UniProtKB
    7. protein homodimerization activity Source: UniProtKB
    8. RNA binding Source: HGNC
    9. sequence-specific DNA binding Source: HGNC
    10. steroid hormone receptor activity Source: InterPro
    11. steroid hormone receptor binding Source: UniProtKB
    12. transcription corepressor activity Source: BHF-UCL
    13. transcription factor binding Source: BHF-UCL

    GO - Biological processi

    1. adrenal gland development Source: HGNC
    2. gene expression Source: Reactome
    3. gonad development Source: HGNC
    4. hypothalamus development Source: UniProtKB
    5. intracellular receptor signaling pathway Source: GOC
    6. Leydig cell differentiation Source: Ensembl
    7. male gonad development Source: UniProtKB
    8. male sex determination Source: Ensembl
    9. negative regulation of cell differentiation Source: Ensembl
    10. negative regulation of intracellular steroid hormone receptor signaling pathway Source: UniProtKB
    11. negative regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    12. negative regulation of transcription, DNA-templated Source: HGNC
    13. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    14. pituitary gland development Source: UniProtKB
    15. protein localization Source: UniProtKB
    16. response to immobilization stress Source: Ensembl
    17. Sertoli cell differentiation Source: Ensembl
    18. spermatogenesis Source: Ensembl
    19. steroid biosynthetic process Source: HGNC
    20. transcription initiation from RNA polymerase II promoter Source: Reactome

    Keywords - Molecular functioni

    Receptor, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Enzyme and pathway databases

    ReactomeiREACT_15525. Nuclear Receptor transcription pathway.
    SignaLinkiP51843.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nuclear receptor subfamily 0 group B member 1
    Alternative name(s):
    DSS-AHC critical region on the X chromosome protein 1
    Nuclear receptor DAX-1
    Gene namesi
    Name:NR0B1
    Synonyms:AHC, DAX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:7960. NR0B1.

    Subcellular locationi

    Nucleus 1 Publication. Cytoplasm 1 Publication
    Note: Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. membrane Source: BHF-UCL
    3. nucleoplasm Source: Reactome
    4. nucleus Source: UniProtKB
    5. polysomal ribosome Source: HGNC

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]: Developmental disorder of the adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. It is characterized by the absence of the permanent zone of the adrenal cortex and by a structural disorganization of the glands. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. HHG is a condition resulting from or characterized by abnormally decreased gonadal function, with retardation of growth and sexual development.14 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti267 – 2671R → P in XL-AHC; impairs transcriptional silencing of the StAR promoter. 1 Publication
    VAR_004738
    Natural varianti269 – 2691Missing in XL-AHC; impairs transcriptional silencing of the StAR promoter. 1 Publication
    VAR_004739
    Natural varianti278 – 2781L → P in XL-AHC. 1 Publication
    VAR_031079
    Natural varianti287 – 2871V → G in XL-AHC; the patient presents an inappropriate tall stature and renal ectopy. 1 Publication
    VAR_004740
    Natural varianti291 – 2911W → C in XL-AHC. 1 Publication
    Corresponds to variant rs28935482 [ dbSNP | Ensembl ].
    VAR_031080
    Natural varianti295 – 2951L → P in XL-AHC. 1 Publication
    VAR_018303
    Natural varianti297 – 2971L → P in XL-AHC; results in a severe loss of repressor activity. 1 Publication
    VAR_031081
    Natural varianti300 – 3001A → P in XL-AHC. 1 Publication
    VAR_018304
    Natural varianti300 – 3001A → V in XL-AHC. 1 Publication
    VAR_004741
    Natural varianti377 – 3771E → K in XL-AHC. 2 Publications
    VAR_004742
    Natural varianti380 – 3801Y → D in XL-AHC. 1 Publication
    VAR_018300
    Natural varianti381 – 3811L → H in XL-AHC. 1 Publication
    VAR_018301
    Natural varianti382 – 3821K → N in XL-AHC. 1 Publication
    Corresponds to variant rs28935180 [ dbSNP | Ensembl ].
    VAR_004743
    Natural varianti385 – 3851V → G in XL-AHC. 1 Publication
    VAR_004744
    Natural varianti425 – 4251R → G in XL-AHC. 1 Publication
    VAR_004745
    Natural varianti425 – 4251R → T in XL-AHC. 1 Publication
    VAR_018305
    Natural varianti439 – 4391I → S in XL-AHC; mild phenotype. 1 Publication
    VAR_018302
    Natural varianti440 – 4401N → I in XL-AHC; impairs RNA-binding activity. 1 Publication
    Corresponds to variant rs28935481 [ dbSNP | Ensembl ].
    VAR_004746
    Natural varianti466 – 4661L → R in XL-AHC. 1 Publication
    VAR_018306
    46,XY sex reversal 2 (SRXY2) [MIM:300018]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. XY individuals with a duplication of part of the short arm of the X chromosome and an intact SRY gene develop as females. The single X chromosome in these individuals does not undergo X-chromosome inactivation; therefore, these individuals presumably carry 2 active copies of genes, including the NR0B1 gene, in the duplicated region. Individuals with deletion of this region develop as males. Genes within the dosage-sensitive sex reversal region are, therefore, not essential for testis development, but, when present in a double dose, interfere with testis formation.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi16 – 172ML → AA: Strongly reduces homodimerization and interaction with NR0B2. 1 Publication
    Mutagenesisi83 – 842ML → AA: Strongly reduces homodimerization and interaction with NR0B2. 1 Publication
    Mutagenesisi149 – 1502LL → AA: Strongly reduces homodimerization and interaction with NR0B2. 1 Publication
    Mutagenesisi461 – 4622MM → AA: Strongly reduces homodimerization and interaction with NR0B2. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi300018. phenotype.
    300200. phenotype.
    Orphaneti242. 46,XY complete gonadal dysgenesis.
    251510. 46,XY partial gonadal dysgenesis.
    95702. Cytomegalic congenital adrenal hypoplasia.
    PharmGKBiPA31746.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 470470Nuclear receptor subfamily 0 group B member 1PRO_0000053748Add
    BLAST

    Proteomic databases

    MaxQBiP51843.
    PaxDbiP51843.
    PRIDEiP51843.

    PTM databases

    PhosphoSiteiP51843.

    Expressioni

    Gene expression databases

    ArrayExpressiP51843.
    BgeeiP51843.
    CleanExiHS_NR0B1.
    GenevestigatoriP51843.

    Interactioni

    Subunit structurei

    Homodimer. Interacts with NR5A1, NR5A2, NR0B2 and with COPS2.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    RORAP353982EBI-946109,EBI-748689

    Protein-protein interaction databases

    BioGridi106695. 15 interactions.
    IntActiP51843. 1 interaction.
    MINTiMINT-2855705.
    STRINGi9606.ENSP00000368253.

    Structurei

    3D structure databases

    ProteinModelPortaliP51843.
    SMRiP51843. Positions 207-470.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati1 – 67671Add
    BLAST
    Repeati68 – 133662Add
    BLAST
    Repeati134 – 200673Add
    BLAST
    Repeati201 – 253534; truncatedAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 2532534 X 67 AA tandem repeatsAdd
    BLAST
    Regioni254 – 470217Ligand-bindingBy similarityAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi13 – 175LXXLL motif 1
    Motifi80 – 845LXXLL motif 2
    Motifi146 – 1505LXXLL motif 3
    Motifi461 – 4666AF-2 motif

    Domaini

    Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and steroid binding domain (AF-2 motif). Heterodimerizes with NR5A1 and NROB2 through its N-terminal LXXLL motifs.

    Sequence similaritiesi

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG238310.
    HOGENOMiHOG000231151.
    HOVERGENiHBG005453.
    InParanoidiP51843.
    KOiK08562.
    OMAiCCFCGED.
    OrthoDBiEOG7NSB35.
    PhylomeDBiP51843.
    TreeFamiTF332386.

    Family and domain databases

    Gene3Di1.10.565.10. 1 hit.
    InterProiIPR008946. Nucl_hormone_rcpt_ligand-bd.
    IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
    IPR025900. Nuclear_receptor_repeat.
    IPR001723. Str_hrmn_rcpt.
    [Graphical view]
    PfamiPF00104. Hormone_recep. 1 hit.
    PF14046. NR_Repeat. 4 hits.
    [Graphical view]
    PRINTSiPR00398. STRDHORMONER.
    SMARTiSM00430. HOLI. 1 hit.
    [Graphical view]
    SUPFAMiSSF48508. SSF48508. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P51843-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAGENHQWQG SILYNMLMSA KQTRAAPEAP ETRLVDQCWG CSCGDEPGVG    50
    REGLLGGRNV ALLYRCCFCG KDHPRQGSIL YSMLTSAKQT YAAPKAPEAT 100
    LGPCWGCSCG SDPGVGRAGL PGGRPVALLY RCCFCGEDHP RQGSILYSLL 150
    TSSKQTHVAP AAPEARPGGA WWDRSYFAQR PGGKEALPGG RATALLYRCC 200
    FCGEDHPQQG STLYCVPTST NQAQAAPEER PRAPWWDTSS GALRPVALKS 250
    PQVVCEAASA GLLKTLRFVK YLPCFQVLPL DQQLVLVRNC WASLLMLELA 300
    QDRLQFETVE VSEPSMLQKI LTTRRRETGG NEPLPVPTLQ HHLAPPAEAR 350
    KVPSASQVQA IKCFLSKCWS LNISTKEYAY LKGTVLFNPD VPGLQCVKYI 400
    QGLQWGTQQI LSEHTRMTHQ GPHDRFIELN STLFLLRFIN ANVIAELFFR 450
    PIIGTVSMDD MMLEMLCTKI 470
    Length:470
    Mass (Da):51,718
    Last modified:May 10, 2002 - v2
    Checksum:i214E237097DF9786
    GO
    Isoform 2 (identifier: P51843-2) [UniParc]FASTAAdd to Basket

    Also known as: NR0B1A

    The sequence of this isoform differs from the canonical sequence as follows:
         390-400: DVPGLQCVKYI → GKGKENDCNHH
         401-470: Missing.

    Note: More abundant than isoform 1 in all tissues tested except testis where they are nearly equal.

    Show »
    Length:400
    Mass (Da):43,590
    Checksum:i368BB8D21A210658
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti4 – 41E → Q in AAC13875. (PubMed:8675564)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti267 – 2671R → P in XL-AHC; impairs transcriptional silencing of the StAR promoter. 1 Publication
    VAR_004738
    Natural varianti269 – 2691Missing in XL-AHC; impairs transcriptional silencing of the StAR promoter. 1 Publication
    VAR_004739
    Natural varianti278 – 2781L → P in XL-AHC. 1 Publication
    VAR_031079
    Natural varianti287 – 2871V → G in XL-AHC; the patient presents an inappropriate tall stature and renal ectopy. 1 Publication
    VAR_004740
    Natural varianti291 – 2911W → C in XL-AHC. 1 Publication
    Corresponds to variant rs28935482 [ dbSNP | Ensembl ].
    VAR_031080
    Natural varianti295 – 2951L → P in XL-AHC. 1 Publication
    VAR_018303
    Natural varianti297 – 2971L → P in XL-AHC; results in a severe loss of repressor activity. 1 Publication
    VAR_031081
    Natural varianti300 – 3001A → P in XL-AHC. 1 Publication
    VAR_018304
    Natural varianti300 – 3001A → V in XL-AHC. 1 Publication
    VAR_004741
    Natural varianti377 – 3771E → K in XL-AHC. 2 Publications
    VAR_004742
    Natural varianti380 – 3801Y → D in XL-AHC. 1 Publication
    VAR_018300
    Natural varianti381 – 3811L → H in XL-AHC. 1 Publication
    VAR_018301
    Natural varianti382 – 3821K → N in XL-AHC. 1 Publication
    Corresponds to variant rs28935180 [ dbSNP | Ensembl ].
    VAR_004743
    Natural varianti385 – 3851V → G in XL-AHC. 1 Publication
    VAR_004744
    Natural varianti425 – 4251R → G in XL-AHC. 1 Publication
    VAR_004745
    Natural varianti425 – 4251R → T in XL-AHC. 1 Publication
    VAR_018305
    Natural varianti439 – 4391I → S in XL-AHC; mild phenotype. 1 Publication
    VAR_018302
    Natural varianti440 – 4401N → I in XL-AHC; impairs RNA-binding activity. 1 Publication
    Corresponds to variant rs28935481 [ dbSNP | Ensembl ].
    VAR_004746
    Natural varianti466 – 4661L → R in XL-AHC. 1 Publication
    VAR_018306

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei390 – 40011DVPGLQCVKYI → GKGKENDCNHH in isoform 2. CuratedVSP_023557Add
    BLAST
    Alternative sequencei401 – 47070Missing in isoform 2. CuratedVSP_023558Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S74720 mRNA. Translation: AAB32751.1.
    U31929 Genomic DNA. Translation: AAC13875.1.
    BC011564 mRNA. Translation: AAH11564.1.
    CCDSiCCDS14223.1. [P51843-1]
    PIRiS50854.
    RefSeqiNP_000466.2. NM_000475.4. [P51843-1]
    UniGeneiHs.268490.

    Genome annotation databases

    EnsembliENST00000378970; ENSP00000368253; ENSG00000169297. [P51843-1]
    GeneIDi190.
    KEGGihsa:190.
    UCSCiuc004dcf.4. human. [P51843-1]

    Polymorphism databases

    DMDMi20532385.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S74720 mRNA. Translation: AAB32751.1 .
    U31929 Genomic DNA. Translation: AAC13875.1 .
    BC011564 mRNA. Translation: AAH11564.1 .
    CCDSi CCDS14223.1. [P51843-1 ]
    PIRi S50854.
    RefSeqi NP_000466.2. NM_000475.4. [P51843-1 ]
    UniGenei Hs.268490.

    3D structure databases

    ProteinModelPortali P51843.
    SMRi P51843. Positions 207-470.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106695. 15 interactions.
    IntActi P51843. 1 interaction.
    MINTi MINT-2855705.
    STRINGi 9606.ENSP00000368253.

    Chemistry

    ChEMBLi CHEMBL1795094.
    DrugBanki DB01234. Dexamethasone.
    DB00755. Tretinoin.

    PTM databases

    PhosphoSitei P51843.

    Polymorphism databases

    DMDMi 20532385.

    Proteomic databases

    MaxQBi P51843.
    PaxDbi P51843.
    PRIDEi P51843.

    Protocols and materials databases

    DNASUi 190.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378970 ; ENSP00000368253 ; ENSG00000169297 . [P51843-1 ]
    GeneIDi 190.
    KEGGi hsa:190.
    UCSCi uc004dcf.4. human. [P51843-1 ]

    Organism-specific databases

    CTDi 190.
    GeneCardsi GC0XM030322.
    GeneReviewsi NR0B1.
    HGNCi HGNC:7960. NR0B1.
    MIMi 300018. phenotype.
    300200. phenotype.
    300473. gene.
    neXtProti NX_P51843.
    Orphaneti 242. 46,XY complete gonadal dysgenesis.
    251510. 46,XY partial gonadal dysgenesis.
    95702. Cytomegalic congenital adrenal hypoplasia.
    PharmGKBi PA31746.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238310.
    HOGENOMi HOG000231151.
    HOVERGENi HBG005453.
    InParanoidi P51843.
    KOi K08562.
    OMAi CCFCGED.
    OrthoDBi EOG7NSB35.
    PhylomeDBi P51843.
    TreeFami TF332386.

    Enzyme and pathway databases

    Reactomei REACT_15525. Nuclear Receptor transcription pathway.
    SignaLinki P51843.

    Miscellaneous databases

    GeneWikii DAX1.
    GenomeRNAii 190.
    NextBioi 776.
    PROi P51843.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51843.
    Bgeei P51843.
    CleanExi HS_NR0B1.
    Genevestigatori P51843.

    Family and domain databases

    Gene3Di 1.10.565.10. 1 hit.
    InterProi IPR008946. Nucl_hormone_rcpt_ligand-bd.
    IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
    IPR025900. Nuclear_receptor_repeat.
    IPR001723. Str_hrmn_rcpt.
    [Graphical view ]
    Pfami PF00104. Hormone_recep. 1 hit.
    PF14046. NR_Repeat. 4 hits.
    [Graphical view ]
    PRINTSi PR00398. STRDHORMONER.
    SMARTi SM00430. HOLI. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48508. SSF48508. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita."
      Zanaria E., Muscatelli F., Bardoni B., Strom T.M., Guioli S., Guo W., Lalli E., Moser C., Walker A.P., McCabe E.R.B., Meitinger T., Monaco A.P., Sassone-Corsi P., Camerino G.
      Nature 372:635-641(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism."
      Guo W., Burris T.P., Zhang Y.H., Huang B.L., Mason J., Copeland K.C., Kupfer S.R., Pagon R.A., McCabe E.R.B.
      J. Clin. Endocrinol. Metab. 81:2481-2486(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Lung.
    4. "Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita."
      Altincicek B., Tenbaum S.P., Dressel U., Thormeyer D., Renkawitz R., Baniahmad A.
      J. Biol. Chem. 275:7662-7667(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH COPS2.
    5. "LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1."
      Suzuki T., Kasahara M., Yoshioka H., Morohashi K., Umesono K.
      Mol. Cell. Biol. 23:238-249(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NR5A1 AND NR5A2.
    6. Cited for: ALTERNATIVE SPLICING (ISOFORM 2).
    7. Cited for: REVIEW.
    8. "Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers."
      Iyer A.K., Zhang Y.-H., McCabe E.R.B.
      Mol. Endocrinol. 20:2326-2342(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: HOMODIMERIZATION, HETERODIMERIZATION WITH NR0B2, SUBCELLULAR LOCATION, MUTAGENESIS OF 16-MET-LEU-17; 83-MET-LEU-84; 149-LEU-LEU-150 AND 461-MET-MET-462.
    9. "Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism."
      Muscatelli F., Strom T.M., Walker A.P., Zanaria E., Recan D., Meindl A., Bardoni B., Guioli S., Zehetner G., Rabl W., Schwarz H.P., Kaplan J.-C., Camerino G., Meitinger T., Monaco A.P.
      Nature 372:672-676(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS XL-AHC PRO-267 AND VAL-269 DEL.
    10. "X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis."
      Schwartz M., Blichfeldt S., Mueller J.
      Hum. Genet. 99:83-87(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XL-AHC ILE-440.
    11. "Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita."
      Nakae J., Abe S., Tajima T., Shinohara N., Murashita M., Igarashi Y., Kusuda S., Suzuki J., Fujieda K.
      J. Clin. Endocrinol. Metab. 82:3835-3841(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS XL-AHC CYS-291 AND ASN-382.
    12. "Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita."
      Takahashi T., Shoji Y., Shoji Y., Haraguchi N., Takahashi I., Takada G.
      J. Pediatr. 130:485-488(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XL-AHC VAL-300.
    13. "A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita."
      Lalli E., Bardoni B., Zazopoulos E., Wurtz J.-M., Strom T.M., Moras D., Sassone-Corsi P.
      Mol. Endocrinol. 11:1950-1960(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS XL-AHC PRO-267 AND VAL-269 DEL.
    14. Cited for: VARIANTS XL-AHC LYS-377; GLY-385 AND GLY-425.
    15. "Dax1 antagonizes Sry action in mammalian sex determination."
      Swain A., Narvaez V., Burgoyne P., Camerino G., Lovell-Badge R.
      Nature 391:761-767(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SRXY2.
    16. "Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia."
      Abe S., Nakae J., Yasoshima K., Tajima T., Shinohara N., Murashita M., Satoh K., Koike A., Takahashi Y., Fujieda K.
      Am. J. Med. Genet. 84:87-89(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XL-AHC ARG-466.
    17. "Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism."
      Bassett J.H.D., O'Halloran D.J., Williams G.R., Beardwell C.G., Shalet S.M., Thakker R.V.
      Clin. Endocrinol. (Oxf.) 50:69-75(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XL-AHC PRO-278.
    18. "A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism."
      Tabarin A., Achermann J.C., Recan D., Bex V., Bertagna X., Christin-Maitre S., Ito M., Jameson J.L., Bouchard P.
      J. Clin. Invest. 105:321-328(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XL-AHC SER-439.
    19. "Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1."
      Achermann J.C., Silverman B.L., Habiby R.L., Jameson J.L.
      J. Pediatr. 137:878-881(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XL-AHC HIS-381.
    20. "Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA."
      Lalli E., Ohe K., Hindelang C., Sassone-Corsi P.
      Mol. Cell. Biol. 20:4910-4921(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS XL-AHC PRO-267; VAL-269 DEL AND ILE-440.
    21. Cited for: VARIANTS XL-AHC PRO-295 AND THR-425.
    22. "Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression."
      Achermann J.C., Ito M., Silverman B.L., Habiby R.L., Pang S., Rosler A., Jameson J.L.
      J. Clin. Endocrinol. Metab. 86:3171-3175(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS XL-AHC PRO-300 AND LYS-377, CHARACTERIZATION OF VARIANTS.
    23. "Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita."
      Mantovani G., Ozisik G., Achermann J.C., Romoli R., Borretta G., Persani L., Spada A., Jameson J.L., Beck-Peccoz P.
      J. Clin. Endocrinol. Metab. 87:44-48(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XL-AHC ASP-380.
    24. "Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation."
      Brown P., Scobie G.A., Townsend J., Bayne R.A.L., Seckl J.R., Saunders P.T.K., Anderson R.A.
      J. Clin. Endocrinol. Metab. 88:1341-1349(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XL-AHC PRO-297, CHARACTERIZATION OF VARIANT XL-AHC PRO-297.
    25. "Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene."
      Franzese A., Brunetti-Pierri N., Spagnuolo M.I., Spadaro R., Giugliano M., Mukai T., Valerio G.
      Am. J. Med. Genet. A 135:72-74(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XL-AHC GLY-287.
    26. Erratum
      Franzese A., Brunetti-Pierri N., Spagnuolo M.I., Spadaro R., Giugliano M., Mukai T., Valerio G.
      Am. J. Med. Genet. A 137:115-115(2005)

    Entry informationi

    Entry nameiNR0B1_HUMAN
    AccessioniPrimary (citable) accession number: P51843
    Secondary accession number(s): Q96F69
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: May 10, 2002
    Last modified: October 1, 2014
    This is version 154 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3