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NR0B1
HPA
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  • NR0B1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

NR0B1
Synonyms AHC, AHCH, DAX1, DSS
Gene descriptioni

Full gene name according to HGNC.

Nuclear receptor subfamily 0 group B member 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Nuclear receptors
Plasma proteins
Transcription factors
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome X
Cytoband p21.2
Chromosome location (bp) 30304206 - 30309390
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

2
Ensembl ENSG00000169297 (version 109)
Entrez gene 190
HGNC HGNC:7960
UniProt P51843 (UniProt - Evidence at protein level)
neXtProt NX_P51843
GeneCards NR0B1
Antibodypedia NR0B1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Receptor, Repressor
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Transcription, Transcription regulation
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
NR0B1-201
ENSP00000368246
ENST00000378963
A6NNU8
[Direct mapping] Nuclear receptor subfamily 0 group B member 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Endocrine and metabolic diseases
   Adrenal gland diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
Show all
105 aa
11.8 kDa
No 0
NR0B1-202
ENSP00000368253
ENST00000378970
P51843
[Direct mapping] Nuclear receptor subfamily 0 group B member 1
Show all
F1D8P4
[Target identity:100%; Query identity:100%] Nuclear receptor subfamily 0 group B member 1
Show all
Nuclear receptors
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Endocrine and metabolic diseases
   Adrenal gland diseases
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000785 [chromatin]
GO:0003714 [transcription corepressor activity]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0007283 [spermatogenesis]
GO:0007530 [sex determination]
GO:0008104 [protein localization]
GO:0008406 [gonad development]
GO:0008584 [male gonad development]
GO:0010894 [negative regulation of steroid biosynthetic process]
GO:0016020 [membrane]
GO:0016607 [nuclear speck]
GO:0016922 [nuclear receptor binding]
GO:0019904 [protein domain specific binding]
GO:0021854 [hypothalamus development]
GO:0021983 [pituitary gland development]
GO:0030238 [male sex determination]
GO:0030325 [adrenal gland development]
GO:0032448 [DNA hairpin binding]
GO:0033144 [negative regulation of intracellular steroid hormone receptor signaling pathway]
GO:0033327 [Leydig cell differentiation]
GO:0034451 [centriolar satellite]
GO:0035902 [response to immobilization stress]
GO:0035987 [endodermal cell differentiation]
GO:0042788 [polysomal ribosome]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043433 [negative regulation of DNA-binding transcription factor activity]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0060008 [Sertoli cell differentiation]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
Show all
470 aa
51.7 kDa
No 0

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