# Nuclear receptor subfamily 5 group A member 1

> mammalian protein found in Homo sapiens

**Wikidata**: [Q7611614](https://www.wikidata.org/wiki/Q7611614)  
**Source**: https://4ort.xyz/entity/nuclear-receptor-subfamily-5-group-a-member-1


## References

1. UniProt
2. [InterPro Release 71.0](http://www.ebi.ac.uk/interpro/protein/Q13285)
3. Q20641742
4. [The role of human MBF1 as a transcriptional coactivator](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
5. [Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
6. [Transcription factors and nuclear receptors interact with the SWI/SNF complex through the BAF60c subunit](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
7. [Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
8. [Acid Ceramidase (ASAH1) Represses Steroidogenic Factor 1-Dependent Gene Transcription in H295R Human Adrenocortical Cells by Binding to the Receptor](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
9. [Loss-of-function mutation in GATA4 causes anomalies of human testicular development](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
10. [cAMP-stimulated transcription of DGKθ requires steroidogenic factor 1 and sterol regulatory element binding protein 1](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
11. [A proteome-scale map of the human interactome network](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
12. [Widespread macromolecular interaction perturbations in human genetic disorders](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
13. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
14. [Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q13285&geneProductId=UniProtKB:Q13285)
15. [Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
16. [Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
17. [Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q13285&geneProductId=UniProtKB:Q13285)
18. [cAMP-stimulated transcription of DGKθ requires steroidogenic factor 1 and sterol regulatory element binding protein 1](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q13285&geneProductId=UniProtKB:Q13285)
19. [A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
20. [A census of human transcription factors: function, expression and evolution](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q13285&geneProductId=UniProtKB:Q13285)
21. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q13285&geneProductId=UniProtKB:Q13285)
22. [A census of human transcription factors: function, expression and evolution](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
23. [Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
24. [Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
25. [Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
26. [A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q13285&geneProductId=UniProtKB:Q13285)
27. [Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q13285&geneProductId=UniProtKB:Q13285)
28. [Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
29. [A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
30. [NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
31. [The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
32. [A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q13285)
33. Ensembl Release 99
34. UMLS 2023