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.