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Protein

Nuclear receptor subfamily 0 group B member 1

Gene

NR0B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Molecular functionReceptor, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
SignaLinkiP51843
SIGNORiP51843

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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000169297.7
HGNCiHGNC:7960 NR0B1
MIMi300473 gene
neXtProtiNX_P51843

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Adrenal hypoplasia, congenital (AHC)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern.
See also OMIM:300200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004738267R → P in AHC; impairs transcriptional silencing of the StAR promoter. 3 PublicationsCorresponds to variant dbSNP:rs104894888EnsemblClinVar.1
Natural variantiVAR_004739269Missing in AHC; impairs transcriptional silencing of the StAR promoter. 3 Publications1
Natural variantiVAR_031079278L → P in AHC. 1 Publication1
Natural variantiVAR_004740287V → G in AHC; the patient presents an inappropriate tall stature and renal ectopy. 1 Publication1
Natural variantiVAR_031080291W → C in AHC. 1 PublicationCorresponds to variant dbSNP:rs28935482EnsemblClinVar.1
Natural variantiVAR_018303295L → P in AHC. 1 Publication1
Natural variantiVAR_031081297L → P in AHC; results in a severe loss of repressor activity. 1 PublicationCorresponds to variant dbSNP:rs104894907EnsemblClinVar.1
Natural variantiVAR_018304300A → P in AHC. 1 Publication1
Natural variantiVAR_004741300A → V in AHC. 1 Publication1
Natural variantiVAR_004742377E → K in AHC. 2 Publications1
Natural variantiVAR_018300380Y → D in AHC. 1 PublicationCorresponds to variant dbSNP:rs104894900EnsemblClinVar.1
Natural variantiVAR_018301381L → H in AHC. 1 PublicationCorresponds to variant dbSNP:rs104894899EnsemblClinVar.1
Natural variantiVAR_004743382K → N in AHC. 1 PublicationCorresponds to variant dbSNP:rs104894896EnsemblClinVar.1
Natural variantiVAR_004744385V → G in AHC. 1 Publication1
Natural variantiVAR_004745425R → G in AHC. 1 Publication1
Natural variantiVAR_018305425R → T in AHC. 1 Publication1
Natural variantiVAR_018302439I → S in AHC; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs104894897EnsemblClinVar.1
Natural variantiVAR_004746440N → I in AHC; impairs RNA-binding activity. 2 PublicationsCorresponds to variant dbSNP:rs28935481EnsemblClinVar.1
Natural variantiVAR_018306466L → R in AHC. 1 Publication1
46,XY sex reversal 2 (SRXY2)1 Publication
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.
Disease descriptionA condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
See also OMIM:300018

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi16 – 17ML → AA: Strongly reduces homodimerization and interaction with NR0B2. 1 Publication2
Mutagenesisi83 – 84ML → AA: Strongly reduces homodimerization and interaction with NR0B2. 1 Publication2
Mutagenesisi149 – 150LL → AA: Strongly reduces homodimerization and interaction with NR0B2. 1 Publication2
Mutagenesisi461 – 462MM → AA: Strongly reduces homodimerization and interaction with NR0B2. 1 Publication2

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi190
GeneReviewsiNR0B1
MalaCardsiNR0B1
MIMi300018 phenotype
300200 phenotype
OpenTargetsiENSG00000169297
Orphaneti242 46,XY complete gonadal dysgenesis
251510 46,XY partial gonadal dysgenesis
95702 Cytomegalic congenital adrenal hypoplasia
PharmGKBiPA31746

Chemistry databases

ChEMBLiCHEMBL1795094
DrugBankiDB01234 Dexamethasone
DB00755 Tretinoin

Polymorphism and mutation databases

BioMutaiNR0B1
DMDMi20532385

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000537481 – 470Nuclear receptor subfamily 0 group B member 1Add BLAST470

Proteomic databases

MaxQBiP51843
PaxDbiP51843
PeptideAtlasiP51843
PRIDEiP51843
ProteomicsDBi56432
56433 [P51843-2]

PTM databases

iPTMnetiP51843
PhosphoSitePlusiP51843

Expressioni

Gene expression databases

BgeeiENSG00000169297 Expressed in 84 organ(s), highest expression level in metanephros
CleanExiHS_NR0B1
ExpressionAtlasiP51843 baseline and differential
GenevisibleiP51843 HS

Organism-specific databases

HPAiHPA061948
HPA067207

Interactioni

Subunit structurei

Homodimer. Interacts with NR5A1, NR5A2, NR0B2 and with COPS2. Interacts with ESRRB; represses ESRRB activity at the GATA6 promoter (By similarity).By similarity2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106695, 15 interactors
IntActiP51843, 3 interactors
STRINGi9606.ENSP00000368253

Chemistry databases

BindingDBiP51843

Structurei

Secondary structure

1470
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP51843
SMRiP51843
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1 – 671Add BLAST67
Repeati68 – 1332Add BLAST66
Repeati134 – 2003Add BLAST67
Repeati201 – 2534; truncatedAdd BLAST53
Domaini205 – 469NR LBDPROSITE-ProRule annotationAdd BLAST265

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 2534 X 67 AA tandem repeatsAdd BLAST253

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi13 – 17LXXLL motif 15
Motifi80 – 84LXXLL motif 25
Motifi146 – 150LXXLL motif 35
Motifi461 – 466AF-2 motif6

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

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00390000015719
HOGENOMiHOG000231151
HOVERGENiHBG005453
InParanoidiP51843
KOiK08562
OMAiCCFCGED
OrthoDBiEOG091G0FGK
PhylomeDBiP51843
TreeFamiTF332386

Family and domain databases

InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR033544 NR0B1
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR025900 Nuclear_receptor_repeat
PANTHERiPTHR24081:SF1 PTHR24081:SF1, 4 hits
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF14046 NR_Repeat, 4 hits
PRINTSiPR00398 STRDHORMONER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NNU8A6NNU8_HUMAN
Nuclear receptor subfamily 0 group ...
NR0B1
105Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4E → Q in AAC13875 (PubMed:8675564).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004738267R → P in AHC; impairs transcriptional silencing of the StAR promoter. 3 PublicationsCorresponds to variant dbSNP:rs104894888EnsemblClinVar.1
Natural variantiVAR_004739269Missing in AHC; impairs transcriptional silencing of the StAR promoter. 3 Publications1
Natural variantiVAR_031079278L → P in AHC. 1 Publication1
Natural variantiVAR_004740287V → G in AHC; the patient presents an inappropriate tall stature and renal ectopy. 1 Publication1
Natural variantiVAR_031080291W → C in AHC. 1 PublicationCorresponds to variant dbSNP:rs28935482EnsemblClinVar.1
Natural variantiVAR_018303295L → P in AHC. 1 Publication1
Natural variantiVAR_031081297L → P in AHC; results in a severe loss of repressor activity. 1 PublicationCorresponds to variant dbSNP:rs104894907EnsemblClinVar.1
Natural variantiVAR_018304300A → P in AHC. 1 Publication1
Natural variantiVAR_004741300A → V in AHC. 1 Publication1
Natural variantiVAR_004742377E → K in AHC. 2 Publications1
Natural variantiVAR_018300380Y → D in AHC. 1 PublicationCorresponds to variant dbSNP:rs104894900EnsemblClinVar.1
Natural variantiVAR_018301381L → H in AHC. 1 PublicationCorresponds to variant dbSNP:rs104894899EnsemblClinVar.1
Natural variantiVAR_004743382K → N in AHC. 1 PublicationCorresponds to variant dbSNP:rs104894896EnsemblClinVar.1
Natural variantiVAR_004744385V → G in AHC. 1 Publication1
Natural variantiVAR_004745425R → G in AHC. 1 Publication1
Natural variantiVAR_018305425R → T in AHC. 1 Publication1
Natural variantiVAR_018302439I → S in AHC; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs104894897EnsemblClinVar.1
Natural variantiVAR_004746440N → I in AHC; impairs RNA-binding activity. 2 PublicationsCorresponds to variant dbSNP:rs28935481EnsemblClinVar.1
Natural variantiVAR_018306466L → R in AHC. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_023557390 – 400DVPGLQCVKYI → GKGKENDCNHH in isoform 2. CuratedAdd BLAST11
Alternative sequenceiVSP_023558401 – 470Missing in isoform 2. CuratedAdd BLAST70

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]
XP_016884827.1, XM_017029338.1
UniGeneiHs.268490

Genome annotation databases

EnsembliENST00000378970; ENSP00000368253; ENSG00000169297 [P51843-1]
GeneIDi190
KEGGihsa:190
UCSCiuc004dcf.5 human [P51843-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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
CCDSiCCDS14223.1 [P51843-1]
PIRiS50854
RefSeqiNP_000466.2, NM_000475.4 [P51843-1]
XP_016884827.1, XM_017029338.1
UniGeneiHs.268490

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RWVX-ray1.86B140-154[»]
ProteinModelPortaliP51843
SMRiP51843
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106695, 15 interactors
IntActiP51843, 3 interactors
STRINGi9606.ENSP00000368253

Chemistry databases

BindingDBiP51843
ChEMBLiCHEMBL1795094
DrugBankiDB01234 Dexamethasone
DB00755 Tretinoin

PTM databases

iPTMnetiP51843
PhosphoSitePlusiP51843

Polymorphism and mutation databases

BioMutaiNR0B1
DMDMi20532385

Proteomic databases

MaxQBiP51843
PaxDbiP51843
PeptideAtlasiP51843
PRIDEiP51843
ProteomicsDBi56432
56433 [P51843-2]

Protocols and materials databases

DNASUi190
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378970; ENSP00000368253; ENSG00000169297 [P51843-1]
GeneIDi190
KEGGihsa:190
UCSCiuc004dcf.5 human [P51843-1]

Organism-specific databases

CTDi190
DisGeNETi190
EuPathDBiHostDB:ENSG00000169297.7
GeneCardsiNR0B1
GeneReviewsiNR0B1
HGNCiHGNC:7960 NR0B1
HPAiHPA061948
HPA067207
MalaCardsiNR0B1
MIMi300018 phenotype
300200 phenotype
300473 gene
neXtProtiNX_P51843
OpenTargetsiENSG00000169297
Orphaneti242 46,XY complete gonadal dysgenesis
251510 46,XY partial gonadal dysgenesis
95702 Cytomegalic congenital adrenal hypoplasia
PharmGKBiPA31746
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00390000015719
HOGENOMiHOG000231151
HOVERGENiHBG005453
InParanoidiP51843
KOiK08562
OMAiCCFCGED
OrthoDBiEOG091G0FGK
PhylomeDBiP51843
TreeFamiTF332386

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
SignaLinkiP51843
SIGNORiP51843

Miscellaneous databases

GeneWikiiDAX1
GenomeRNAii190
PROiPR:P51843
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169297 Expressed in 84 organ(s), highest expression level in metanephros
CleanExiHS_NR0B1
ExpressionAtlasiP51843 baseline and differential
GenevisibleiP51843 HS

Family and domain databases

InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR033544 NR0B1
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR025900 Nuclear_receptor_repeat
PANTHERiPTHR24081:SF1 PTHR24081:SF1, 4 hits
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF14046 NR_Repeat, 4 hits
PRINTSiPR00398 STRDHORMONER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNR0B1_HUMAN
AccessioniPrimary (citable) accession number: P51843
Secondary accession number(s): Q96F69
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 10, 2002
Last modified: October 10, 2018
This is version 188 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

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