NR5A1, AD4BP, FTZF1, SF1, Steroidogenic factor 1, SF-1, STF-1, Adrenal 4-binding protein, Fushi tarazu factor homolog 1, Nuclear receptor subfamily 5 group A member 1, Steroid hormone receptor Ad4BP
The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008],disease:Defects in NR5A1 are a cause of adrenocortical insufficiency without ovarian defect [MIM:184757]. The disease is characterized by severe slackness, muscular hypotonia. There is decreased sodium, increased potassium and elevated ACTH.,disease:Defects in NR5A1 are a cause of XY sex reversal with or without adrenal failure [MIM:184757]. This disease is characterized by normal female external genitalia and retention of the uterus.,function:Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P-450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the Muellerian inhibiting substance (AMH) gene as well as the AHCH and STAR genes. 5-YCAAGGYC-3 and 5-RRAGGTCA-3 are the consensus sequences for the recognition by NR5A1/FTZF1. The SFPQ-NONO-NR5A1/SF-1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3.,PTM:Acetylation stimulates the transcriptional activity.,similarity:Belongs to the nuclear hormone receptor family.,similarity:Belongs to the nuclear hormone receptor family. NR5 subfamily.,similarity:Contains 1 nuclear receptor DNA-binding domain.,subunit:Binds DNA as a monomer. Interacts with NR0B2 and PPARGC1A (By similarity). Part of a complex consisting of SFPQ, NONO and NR5A1/SF-1. Interacts with NCOA2.,
