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. ,
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