Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

NR0B1

Aliases

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

Entrez Gene ID

190

Gene Name

Nuclear receptor subfamily 0 group B member 1

Chromosomal Location

Xp21.2

HGNC ID

7960

Summary

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]

RefSeq DNA

NG_009814.1

RefSeq mRNA

NM_000475.5

e!Ensembl

Gene	ENSG00000169297
Transcript	ENST00000378970, ENST00000378963
Protein	ENSP00000368253, ENSP00000368246

SNPs

SNP	SNP ID	Associated disease	References
Glu3fsAla * 16		Idiopathic central precocious puberty (iCPP)	27648561

Gene Ontology (GO)

Show/Hide all(33 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007283	Biological process	Spermatogenesis	IBA	21873635
GO:0008104	Biological process	Protein localization	IDA	11875111
GO:0008406	Biological process	Gonad development	IMP	7990953
GO:0008584	Biological process	Male gonad development	IBA	21873635
GO:0008584	Biological process	Male gonad development	IMP	7990958
GO:0010894	Biological process	Negative regulation of steroid biosynthetic process	IDA	9384387
GO:0021854	Biological process	Hypothalamus development	NAS	15464421
GO:0021983	Biological process	Pituitary gland development	NAS	15464421
GO:0030325	Biological process	Adrenal gland development	IBA	21873635
GO:0030325	Biological process	Adrenal gland development	IMP	7990953
GO:0033144	Biological process	Negative regulation of intracellular steroid hormone receptor signaling pathway	IDA	11875111
GO:0043433	Biological process	Negative regulation of DNA-binding transcription factor activity	IBA	21873635
GO:0043433	Biological process	Negative regulation of DNA-binding transcription factor activity	IMP	19651776
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IDA	7990953, 9384387
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IMP	19651776
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	7990953, 10848616, 16709599, 19651776
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005737	Cellular component	Cytoplasm	IDA	16709599
GO:0016020	Cellular component	Membrane	IDA	10848616
GO:0042788	Cellular component	Polysomal ribosome	IDA	10848616
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0003714	Molecular function	Transcription corepressor activity	IBA	21873635
GO:0003714	Molecular function	Transcription corepressor activity	IMP	19651776
GO:0003723	Molecular function	RNA binding	IDA	10848616
GO:0005515	Molecular function	Protein binding	IPI	12771131, 16709599, 16713569, 25416956, 25910212, 32296183
GO:0008134	Molecular function	Transcription factor binding	IBA	21873635
GO:0008134	Molecular function	Transcription factor binding	IPI	19651776
GO:0019904	Molecular function	Protein domain specific binding	IPI	15100213
GO:0032448	Molecular function	DNA hairpin binding	IDA	9384387
GO:0035258	Molecular function	Steroid hormone receptor binding	IPI	11875111
GO:0042803	Molecular function	Protein homodimerization activity	IPI	16709599

Protein Information

Protein Name

Nuclear receptor subfamily 0 group B member 1, DSS-AHC critical region on the X chromosome protein 1, nuclear hormone receptor, nuclear receptor DAX-1, truncated nuclear receptor subfamily 0 group B member 1

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).

Refseq Proteins

NP_000466.2

UniProt

P51843

PDB

4RWV