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P51843

- NR0B1_HUMAN

UniProt

P51843 - NR0B1_HUMAN

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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

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 domain specific binding Source: UniProtKB
  6. protein homodimerization activity Source: UniProtKB
  7. RNA binding Source: HGNC
  8. sequence-specific DNA binding Source: HGNC
  9. steroid hormone receptor activity Source: InterPro
  10. steroid hormone receptor binding Source: UniProtKB
  11. transcription corepressor activity Source: BHF-UCL
  12. 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP51843.
CleanExiHS_NR0B1.
ExpressionAtlasiP51843. baseline and differential.
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.
GeneTreeiENSGT00390000015719.
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

        10         20         30         40         50
MAGENHQWQG SILYNMLMSA KQTRAAPEAP ETRLVDQCWG CSCGDEPGVG
60 70 80 90 100
REGLLGGRNV ALLYRCCFCG KDHPRQGSIL YSMLTSAKQT YAAPKAPEAT
110 120 130 140 150
LGPCWGCSCG SDPGVGRAGL PGGRPVALLY RCCFCGEDHP RQGSILYSLL
160 170 180 190 200
TSSKQTHVAP AAPEARPGGA WWDRSYFAQR PGGKEALPGG RATALLYRCC
210 220 230 240 250
FCGEDHPQQG STLYCVPTST NQAQAAPEER PRAPWWDTSS GALRPVALKS
260 270 280 290 300
PQVVCEAASA GLLKTLRFVK YLPCFQVLPL DQQLVLVRNC WASLLMLELA
310 320 330 340 350
QDRLQFETVE VSEPSMLQKI LTTRRRETGG NEPLPVPTLQ HHLAPPAEAR
360 370 380 390 400
KVPSASQVQA IKCFLSKCWS LNISTKEYAY LKGTVLFNPD VPGLQCVKYI
410 420 430 440 450
QGLQWGTQQI LSEHTRMTHQ GPHDRFIELN STLFLLRFIN ANVIAELFFR
460 470
PIIGTVSMDD MMLEMLCTKI
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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

BindingDBi P51843.
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.
GeneTreei ENSGT00390000015719.
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

Bgeei P51843.
CleanExi HS_NR0B1.
ExpressionAtlasi P51843. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 156 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

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