Species

Mus musculus

Symbol

Nr5a1

Name

nuclear receptor subfamily 5, group A, member 1

Synonyms

Ad4bp
Ad4BP

Biotype

protein coding gene

Automated Description

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and chromatin binding activity. Involved in negative regulation of female gonad development and positive regulation of male gonad development. Acts upstream of or within several processes, including adrenal gland development; gonad development; and maintenance of protein location in nucleus. Located in nucleus. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including central nervous system; endocrine gland; genitourinary system; hemolymphoid system; and respiratory system. Used to study hypogonadotropic hypogonadism. Human ortholog(s) of this gene implicated in 46,XX sex reversal 4; 46,XY sex reversal 3; Zellweger syndrome; primary ovarian insufficiency 7; and spermatogenic failure 8. Orthologous to human NR5A1 (nuclear receptor subfamily 5 group A member 1).

MGI Description

PHENOTYPE: Homozygotes for targeted null mutations exhibit agenesis of the adrenal glands and gonads, defects of the ventromedial hypothalamic nucleus, impaired pituitary gonadotroph function, and neonatal lethality. Homozygosity for a critical point mutation results in absence of adrenal glands, sex reversal in males and early postnatal lethality. [provided by MGI curators]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR24086

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

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Pathways

No data available

Phenotypes

Primary Sources

MGI

Other Sources

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

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Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

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Sequence Feature Viewer

Genome location

Chr2:38582668...38604554 - (21.89 kb)

Assembly version

GRCm39

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Nr5a1 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

Nr5a1 role	Nr5a1 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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