功能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 P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance 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. The SFPQ-NONO-NR5A1 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.
疾病相关Defects in NR5A1 are a cause of 46,XY disorder of sex development (46,XY DSD) [MIM:612965]; also known as XY sex reversal with or without adrenal failure. A congenital condition in which development of chromosomal, gonadal, or antomic sex is atypical. 46,XY DSD is a disorder of gonadal (testicular) development, which may be complete or partial. The complete form includes streak gonads, normal mullerian structures, and normal female external genitalia. The partial form includes ambiguous external genitalia and partial development of mullerian and wolffian structures. Defects in NR5A1 are a cause of adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]. ACIWOD is characterized by severe 'slackness' muscular hypotonia. There is decreased sodium, increased potassium and elevated ACTH. Defects in NR5A1 are the cause of premature ovarian failure type 7 (POF7) [MIM:612964]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
序列相似性Belongs to the nuclear hormone receptor family. NR5 subfamily. Contains 1 nuclear receptor DNA-binding domain.
翻译后修饰Acetylation stimulates the transcriptional activity.