NR0B1 nuclear receptor subfamily 0 group B member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NR0B1provided by HGNC
Official Full Name: nuclear receptor subfamily 0 group B member 1provided by HGNC
Primary source: HGNC:HGNC:7960
See related: Ensembl:ENSG00000169297 MIM:300473; AllianceGenome:HGNC:7960
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AHC; AHX; DSS; GTD; HHG; AHCH; DAX1; DAX-1; NROB1; SRXY2
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]
Expression: Biased expression in testis (RPKM 9.2), adrenal (RPKM 6.6) and 1 other tissue See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: Xp21.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (30304206..30309390, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (29896466..29901652, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (30322323..30327507, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NR0B1 augments sorafenib resistance in hepatocellular carcinoma through promoting autophagy and inhibiting apoptosis.
Title: NR0B1 augments sorafenib resistance in hepatocellular carcinoma through promoting autophagy and inhibiting apoptosis.
New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images.
Title: New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images.
Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita.
Title: Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita.
Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.
Title: Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.
Inhibition of beta-catenin dependent WNT signalling upregulates the transcriptional repressor NR0B1 and downregulates markers of an A9 phenotype in human embryonic stem cell-derived dopaminergic neurons: Implications for Parkinson's disease.
Title: Inhibition of β-catenin dependent WNT signalling upregulates the transcriptional repressor NR0B1 and downregulates markers of an A9 phenotype in human embryonic stem cell-derived dopaminergic neurons: Implications for Parkinson's disease.
Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.
Title: Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.
Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.
Title: Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.
A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.
Title: A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.
microRNA-106a promoted the invasion, migration, and proliferation of breast cancer by targeting DAX-1
Title: MiRNA-106a promotes breast cancer progression by regulating DAX-1.
an intrinsic, gonadotropin- and ACTH-independent activation of steroidogenesis in the DAX1 deficient testes leads to precocious puberty in adrenal hypoplasia congenital in patients with DAX1 mutations.
Title: Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation - A Case Report and Review of the Literature: Implications for the Pathomechanism.

Submit: New GeneRIF Correction See all GeneRIFs (104)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
46,XY sex reversal 2 MedGen: C1848296 OMIM: 300018 GeneReviews: Not available	Compare labs
Congenital adrenal hypoplasia, X-linked MedGen: C0342482 OMIM: 300200 GeneReviews: NR0B1-Related Adrenal Hypoplasia Congenita	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-05-05) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-05-05) ClinGen Genome Curation PagePubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

NR0B1_2627 (e-PCR)
- UniSTS:280870

GDB:555626 (e-PCR)
- UniSTS:99114

NR0B1 (e-PCR)
- UniSTS:506535

GDB:555633 (e-PCR)
- UniSTS:157692

GDB:555638 (e-PCR)
- UniSTS:157693

RH80290 (e-PCR)
- UniSTS:85503

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AF-2 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA hairpin binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables nuclear receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in Leydig cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in Sertoli cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in adrenal gland development	IBA Inferred from Biological aspect of Ancestor more info
involved_in adrenal gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endodermal cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hypothalamus development	NAS Non-traceable Author Statement more info	PubMed
involved_in male gonad development	IBA Inferred from Biological aspect of Ancestor more info
involved_in male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in male sex determination	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of intracellular steroid hormone receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of steroid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in pituitary gland development	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to immobilization stress	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in ribosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: nuclear receptor subfamily 0 group B member 1

Names: DSS-AHC critical region on the X chromosome protein 1; nuclear hormone receptor; nuclear receptor DAX-1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009814.1 RefSeqGene

Range

4989..10173

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_858

mRNA and Protein(s)

NM_000475.5 → NP_000466.2 nuclear receptor subfamily 0 group B member 1

See identical proteins and their annotated locations for NP_000466.2

Status: REVIEWED

Source sequence(s)

AC005185, AC005926, AW612655, BC011564, BI772108

Consensus CDS

CCDS14223.1

UniProtKB/Swiss-Prot

P51843, Q96F69

UniProtKB/TrEMBL

F1D8P4

Related

ENSP00000368253.4, ENST00000378970.5

Conserved Domains (2) summary

cd07350
Location:231 → 464

NR_LBD_Dax1; The ligand binding domain of DAX1 protein, a nuclear receptor lacking DNA binding domain

pfam14046
Location:201 → 246

NR_Repeat; Nuclear receptor repeat