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Entry version 196 (13 Nov 2019)
Sequence version 2 (10 May 2002)
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Protein

Nuclear receptor subfamily 0 group B member 1

Gene

NR0B1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-383280 Nuclear Receptor transcription pathway

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P51843

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P51843

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NR0B1
Synonyms:AHC, DAX1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7960 NR0B1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300473 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51843

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
190

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
NR0B1

MalaCards human disease database

More...
MalaCardsi
NR0B1
MIMi300018 phenotype
300200 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000169297

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
393 46,XX testicular disorder of sex development
242 46,XY complete gonadal dysgenesis
251510 46,XY partial gonadal dysgenesis
95702 Cytomegalic congenital adrenal hypoplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31746

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P51843

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1795094

Drug and drug target database

More...
DrugBanki
DB01234 Dexamethasone
DB00755 Tretinoin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NR0B1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20532385

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000537481 – 470Nuclear receptor subfamily 0 group B member 1Add BLAST470

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P51843

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P51843

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P51843

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P51843

PeptideAtlas

More...
PeptideAtlasi
P51843

PRoteomics IDEntifications database

More...
PRIDEi
P51843

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
56432 [P51843-1]
56433 [P51843-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P51843

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P51843

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169297 Expressed in 84 organ(s), highest expression level in metanephros

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51843 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P51843 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA061948
HPA067207

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106695, 15 interactors

Protein interaction database and analysis system

More...
IntActi
P51843, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368253

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P51843

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P51843

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati1 – 671Add BLAST67
Repeati68 – 1332Add BLAST66
Repeati134 – 2003Add BLAST67
Repeati201 – 2534; truncatedAdd BLAST53
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini205 – 469NR LBDPROSITE-ProRule annotationAdd BLAST265

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 2534 X 67 AA tandem repeatsAdd BLAST253

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi13 – 17LXXLL motif 15
Motifi80 – 84LXXLL motif 25
Motifi146 – 150LXXLL motif 35
Motifi461 – 466AF-2 motif6

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3575 Eukaryota
ENOG410XRZC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015719

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231151

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P51843

KEGG Orthology (KO)

More...
KOi
K08562

Identification of Orthologs from Complete Genome Data

More...
OMAi
WGCSCGA

Database of Orthologous Groups

More...
OrthoDBi
385042at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P51843

TreeFam database of animal gene trees

More...
TreeFami
TF332386

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.565.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035500 NHR-like_dom_sf
IPR033544 NR0B1
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR025900 Nuclear_receptor_repeat

The PANTHER Classification System

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PANTHERi
PTHR24081:SF10 PTHR24081:SF10, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00104 Hormone_recep, 1 hit
PF14046 NR_Repeat, 4 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00398 STRDHORMONER

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00430 HOLI, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48508 SSF48508, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51843 NR_LBD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
S74720 mRNA Translation: AAB32751.1
U31929 Genomic DNA Translation: AAC13875.1
BC011564 mRNA Translation: AAH11564.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14223.1 [P51843-1]

Protein sequence database of the Protein Information Resource

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PIRi
S50854

NCBI Reference Sequences

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RefSeqi
NP_000466.2, NM_000475.4 [P51843-1]
XP_016884827.1, XM_017029338.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000378970; ENSP00000368253; ENSG00000169297 [P51843-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
190

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:190

UCSC genome browser

More...
UCSCi
uc004dcf.5 human [P51843-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RWVX-ray1.86B140-154[»]
SMRiP51843
ModBaseiSearch...
PDBe-KBiSearch...

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

jPOSTiP51843
MassIVEiP51843
MaxQBiP51843
PaxDbiP51843
PeptideAtlasiP51843
PRIDEiP51843
ProteomicsDBi56432 [P51843-1]
56433 [P51843-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
190

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
190
DisGeNETi190

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NR0B1
GeneReviewsiNR0B1
HGNCiHGNC:7960 NR0B1
HPAiHPA061948
HPA067207
MalaCardsiNR0B1
MIMi300018 phenotype
300200 phenotype
300473 gene
neXtProtiNX_P51843
OpenTargetsiENSG00000169297
Orphaneti393 46,XX testicular disorder of sex development
242 46,XY complete gonadal dysgenesis
251510 46,XY partial gonadal dysgenesis
95702 Cytomegalic congenital adrenal hypoplasia
PharmGKBiPA31746

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00390000015719
HOGENOMiHOG000231151
InParanoidiP51843
KOiK08562
OMAiWGCSCGA
OrthoDBi385042at2759
PhylomeDBiP51843
TreeFamiTF332386

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
SignaLinkiP51843
SIGNORiP51843

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
DAX1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
190
PharosiP51843

Protein Ontology

More...
PROi
PR:P51843

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

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

Family and domain databases

Gene3Di1.10.565.10, 1 hit
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:SF10 PTHR24081:SF10, 1 hit
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNR0B1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51843
Secondary accession number(s): Q96F69
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 10, 2002
Last modified: November 13, 2019
This is version 196 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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