InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NR0B1

Summary

InnateDB Protein

IDBP-53732.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NR0B1

Protein Name

nuclear receptor subfamily 0, group B, member 1

Synonyms

AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG; NROB1; SRXY2;

Species

Homo sapiens

Ensembl Protein

ENSP00000368253

InnateDB Gene

IDBG-53730 (NR0B1)

Protein Structure

UniProt Annotation

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). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:16709599}. Cytoplasm {ECO:0000269PubMed:16709599}. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.

Disease Associations

X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]: Developmental disorder of the adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. It is characterized by the absence of the permanent zone of the adrenal cortex and by a structural disorganization of the glands. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. HHG is a condition resulting from or characterized by abnormally decreased gonadal function, with retardation of growth and sexual development. {ECO:0000269PubMed:10323730, ECO:0000269PubMed:10341858, ECO:0000269PubMed:10675358, ECO:0000269PubMed:11113848, ECO:0000269PubMed:11443184, ECO:0000269PubMed:11748852, ECO:0000269PubMed:11788621, ECO:0000269PubMed:12629128, ECO:0000269PubMed:15800903, ECO:0000269PubMed:7990958, ECO:0000269PubMed:9003500, ECO:0000269PubMed:9063431, ECO:0000269PubMed:9360549, ECO:0000269PubMed:9529340}. Note=The disease is caused by mutations affecting the gene represented in this entry.46,XY sex reversal 2 (SRXY2) [MIM:300018]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. {ECO:0000269PubMed:9486644}. Note=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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 25 interaction(s) predicted by orthology.

Experimentally validated
Total	21 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	25 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003707	steroid hormone receptor activity
GO:0003714	transcription corepressor activity
GO:0003723	RNA binding
GO:0004879	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0019904	protein domain specific binding
GO:0032448	DNA hairpin binding
GO:0035258	steroid hormone receptor binding
GO:0042803	protein homodimerization activity
GO:0043565	sequence-specific DNA binding
GO:0050682	AF-2 domain binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006355	regulation of transcription, DNA-templated
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0006694	steroid biosynthetic process
GO:0007283	spermatogenesis
GO:0007530	sex determination
GO:0008104	protein localization
GO:0008406	gonad development
GO:0008584	male gonad development
GO:0010467	gene expression
GO:0021854	hypothalamus development
GO:0021983	pituitary gland development
GO:0030154	cell differentiation
GO:0030238	male sex determination
GO:0030325	adrenal gland development
GO:0030522	intracellular receptor signaling pathway
GO:0033144	negative regulation of intracellular steroid hormone receptor signaling pathway
GO:0033327	Leydig cell differentiation
GO:0035902	response to immobilization stress
GO:0043401	steroid hormone mediated signaling pathway
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045596	negative regulation of cell differentiation
GO:0045892	negative regulation of transcription, DNA-templated
GO:0060008	Sertoli cell differentiation