SF-1 Rabbit Polyclonal Antibody

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.

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