NROB1

NR0B1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4RWV
Identifiers
Aliases	NR0B1, AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2, nuclear receptor subfamily 0 group B member 1
External IDs	OMIM: 300473 MGI: 1352460 HomoloGene: 403 GeneCards: NR0B1
Gene location (Human) Chr. X chromosome (human) Band Xp21.2 Start 30,304,206 bp End 30,309,598 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X C1|X 39.67 cM Start 86,191,764 bp End 86,195,947 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • protein domain specific binding • sequence-specific DNA binding • protein homodimerization activity • RNA binding • RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding • steroid hormone receptor binding • AF-2 domain binding • DNA binding • DNA hairpin binding • steroid hormone receptor activity • protein binding • transcription corepressor activity • transcription factor binding Cellular component • cytoplasm • nucleus • membrane • polysomal ribosome • nucleoplasm Biological process • sex determination • spermatogenesis • negative regulation of sequence-specific DNA binding transcription factor activity • transcription, DNA-templated • response to immobilization stress • pituitary gland development • gonad development • Leydig cell differentiation • steroid hormone mediated signaling pathway • transcription initiation from RNA polymerase II promoter • protein localization • hypothalamus development • negative regulation of cell differentiation • male sex determination • Sertoli cell differentiation • negative regulation of intracellular steroid hormone receptor signaling pathway • regulation of transcription, DNA-templated • cell differentiation • steroid biosynthetic process • male gonad development • adrenal gland development • negative regulation of transcription, DNA-templated • intracellular receptor signaling pathway • negative regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	190	11614
Ensembl	ENSG00000169297	ENSMUSG00000025056
UniProt	P51843	Q61066
RefSeq (mRNA)	NM_000475	NM_007430
RefSeq (protein)	NP_000466 NP_000466.2	NP_031456
Location (UCSC)	Chr X: 30.3 – 30.31 Mb	Chr X: 86.19 – 86.2 Mb
PubMed search

4RWV

190

11614

ENSG00000169297

ENSMUSG00000025056

P51843

Q61066

NM_000475

NM_007430

NP_000466
NP_000466.2

NP_031456

DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that in humans is encoded by the NR0B1 gene (nuclear receptor subfamily 0, group B, member 1). The NR0B1 gene is located on the short (p) arm of the X chromosome between positions 21.3 and 21.2, from base pair 30,082,120 to base pair 30,087,136.

This gene encodes a protein that lacks the normal DNA-binding domain contained in other nuclear receptors. The encoded protein acts as a dominant-negative regulator of transcription of other nuclear receptors including steroidogenic factor 1. 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.

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