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NR0B1

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]
Full Name
NR0B1
Function
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).
Biological Process
Adrenal gland developmentManual Assertion Based On ExperimentIMP:HGNC-UCL
Gonad developmentManual Assertion Based On ExperimentIMP:HGNC-UCL
Hypothalamus development1 PublicationNAS:UniProtKB
Leydig cell differentiationIEA:Ensembl
Male gonad developmentManual Assertion Based On ExperimentIMP:UniProtKB
Male sex determinationIEA:Ensembl
Negative regulation of DNA-binding transcription factor activityManual Assertion Based On ExperimentIMP:BHF-UCL
Negative regulation of intracellular steroid hormone receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of steroid biosynthetic processManual Assertion Based On ExperimentIDA:HGNC-UCL
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Negative regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:HGNC-UCL
Pituitary gland development1 PublicationNAS:UniProtKB
Protein localizationManual Assertion Based On ExperimentIDA:UniProtKB
Response to immobilization stressIEA:Ensembl
Sertoli cell differentiationIEA:Ensembl
SpermatogenesisManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Nucleus
Cytoplasm
Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.
Involvement in disease
Adrenal hypoplasia, congenital (AHC):
A 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.
46,XY sex reversal 2 (SRXY2):
The disease is caused by variants 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.

Anti-NR0B1 antibodies

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Target: NR0B1
Host: Mouse
Antibody Isotype: IgG3, κ
Specificity: Human
Clone: 1F10
Application*: E, WB
Target: NR0B1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 2F12
Application*: E, IF
Target: NR0B1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Rat
Clone: 1A10
Application*: IP, WB, M
Target: NR0B1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Chicken
Clone: 1F12
Application*: IP, WB, M
Target: NR0B1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 3DA
Application*: E, WB, IC, IH, IP
Target: NR0B1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 3G8
Application*: WB, IP, E
Target: NR0B1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 5F5
Application*: WB, IH
Target: NR0B1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: H7431
Application*: WB
Target: NR0B1
Host: Rabbit
Specificity: Human
Clone: D2F1
Application*: WB, IP, P, IF
Target: NR0B1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBWJN-0817
Application*: WB, P, IC
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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