Nr0b1 nuclear receptor subfamily 0, group B, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nr0b1provided by MGI
Official Full Name: nuclear receptor subfamily 0, group B, member 1provided by MGI
Primary source: MGI:MGI:1352460
See related: Ensembl:ENSMUSG00000025056 AllianceGenome:MGI:1352460
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: AHX; Ahc; Ahch; Dax1; DAX-1; mDax1-38; mDax1-134; mDax1-218; mDax1-225; mDax1-249; mDax1-292; mDax1-297; mDax1-300; mDax1-308; mDax1-318; mDax1-329; mDax1-337; mDax1-344; mDax1-404; mDax1-472
Summary: This gene encodes an orphan nuclear receptor protein that plays a key role in differentiation of the gonads. This protein regulates steroidogenic factor 1 (Sf-1) in a dose-dependent manner, sometimes functioning as a repressor of SF-1 target genes, and sometimes functioning as a co-activator. Overexpression of this gene can cause feminization of the XY male gonads. This gene is also involved in the maintenance of embryonic stem cell pluripotancy. Mutations in the related gene in human cause congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, May 2015]
Expression: Biased expression in adrenal adult (RPKM 34.4), ovary adult (RPKM 8.3) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: X C1; X 39.67 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (85235381..85239553)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (86191775..86195947)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and Functional Evaluation of Alternative Splice Variants of Dax1 in Mouse Embryonic Stem Cells.
Title: Identification and Functional Evaluation of Alternative Splice Variants of Dax1 in Mouse Embryonic Stem Cells.
Dax1 modulates ERalpha-dependent hypothalamic estrogen sensing in female mice.
Title: Dax1 modulates ERα-dependent hypothalamic estrogen sensing in female mice.
Hepatocyte DAX1 Deletion Exacerbates Inflammatory Liver Injury by Inducing the Recruitment of CD4[+] and CD8[+] T Cells through NF-kappaB p65 Signaling Pathway in Mice.
Title: Hepatocyte DAX1 Deletion Exacerbates Inflammatory Liver Injury by Inducing the Recruitment of CD4(+) and CD8(+) T Cells through NF-κB p65 Signaling Pathway in Mice.
Cooperation between HDAC3 and DAX1 mediates lineage restriction of embryonic stem cells.
Title: Cooperation between HDAC3 and DAX1 mediates lineage restriction of embryonic stem cells.
CpG methylation within the NR0B1 promoter is not involved in the in vivo regulation of NR0B1 expression, whereas the hyperacetylation of histone H4 and the unmethylation of histones H3K9 and H3K27, and their binding to the NR0B1 promoter results in decondensed euchromatin for NR0B1 activation.
Title: Epigenetic modifications promote the expression of the orphan nuclear receptor NR0B1 in human lung adenocarcinoma cells.
Sf1 SUMOylation and Dax1 have roles in the physiological cessation of FAdE-mediated Sf1 expression and the resultant regression of the postnatal fetal cortex (X-zone)
Title: Timing of adrenal regression controlled by synergistic interaction between Sf1 SUMOylation and Dax1.
Findings indicate that the Gata6 promoter is activated by Esrrb in association with Ncoa3, and Dax1 inhibited activities of Esrrb and Ncoa3, resulting maintenance of the undifferentiated status of embryonic stem (ES) cells.
Title: Esrrb directly binds to Gata6 promoter and regulates its expression with Dax1 and Ncoa3.
Data indicate that nuclear receptor subfamily 0 group B member 1 (Nr0b1) interacted with androgen receptor (AR) in Sertoli cells (SCs).
Title: Identification of NR0B1 as a novel androgen receptor co-repressor in mouse Sertoli cells.
Nr0b1 is a negative regulator of Zscan4c in mouse embryonic stem cells
Title: Nr0b1 is a negative regulator of Zscan4c in mouse embryonic stem cells.
Dax1 and Nanog have roles in stabilizing mouse embryonic stem cells and induced pluripotency
Title: Dax1 and Nanog act in parallel to stabilize mouse embryonic stem cells and induced pluripotency.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (6)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:464683 (e-PCR)
- UniSTS:464683

Nr0b1 (e-PCR), detects polymorphism
- UniSTS:464683

Nr0b1 (e-PCR), detects polymorphism
- UniSTS:257080

Nr0b1 (e-PCR), detects polymorphism
- UniSTS:525926

U41568 (e-PCR)
- UniSTS:209528

PMC304100P3 (e-PCR)
- UniSTS:272528

Nr0b1 (e-PCR), detects polymorphism
- UniSTS:507098

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables AF-2 domain binding	ISO Inferred from Sequence Orthology more info
enables DNA hairpin binding	ISO Inferred from Sequence Orthology more info
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables nuclear receptor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
NOT enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IGI Inferred from Genetic Interaction more info	PubMed
enables transcription corepressor activity	ISO Inferred from Sequence Orthology more info
enables transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Leydig cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within Leydig cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within Sertoli cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within Sertoli cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adrenal gland development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within adrenal gland development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in adrenal gland development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endodermal cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gonad development	ISO Inferred from Sequence Orthology more info
involved_in male gonad development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in male gonad development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within male sex determination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within male sex determination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay 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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of intracellular steroid hormone receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of negative regulation of steroid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in protein localization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to immobilization stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sex determination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centriolar satellite	ISO Inferred from Sequence Orthology 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 cytoplasm	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology 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 nucleus	ISO Inferred from Sequence Orthology more info
located_in ribosome	IDA Inferred from Direct Assay more info	PubMed
located_in ribosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: nuclear receptor subfamily 0 group B member 1

Names: adrenal hypoplasia congenita-like protein; adrenal hypoplasia, congenital homolog; mDax1- 190; mDax1- 202; mDax1- 278; mDax1- 331; nuclear receptor DAX-1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_007430.5 → NP_031456.1 nuclear receptor subfamily 0 group B member 1

See identical proteins and their annotated locations for NP_031456.1

Status: REVIEWED

Source sequence(s)

AK133411, AK141239, BB404032

Consensus CDS

CCDS30260.1

UniProtKB/Swiss-Prot

O09068, O09147, Q61066

UniProtKB/TrEMBL

Q53ZY9

Related

ENSMUSP00000026036.5, ENSMUST00000026036.5

Conserved Domains (2) summary

cd07350
Location:233 → 466

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

pfam14046
Location:1 → 47

NR_Repeat; Nuclear receptor repeat