NR5A1

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.

NR5A1

Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692).
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 (PubMed:27378692).
The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (By similarity).
Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation.

Adrenal gland developmentIEA:Ensembl
Cell differentiationIEA:Ensembl
Female gonad developmentManual Assertion Based On ExperimentIMP:UniProtKB
Hormone metabolic processIEA:Ensembl
Hormone-mediated signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
LuteinizationIEA:Ensembl
Maintenance of protein location in nucleusIEA:Ensembl
Male gonad developmentManual Assertion Based On ExperimentIMP:UniProtKB
Male sex determinationManual Assertion Based On ExperimentIMP:BHF-UCL
Multicellular organism agingIEA:Ensembl
Negative regulation of female gonad developmentIEA:Ensembl
Positive regulation of gene expressionManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of male gonad developmentManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:UniProtKB
Primary sex determinationManual Assertion Based On ExperimentTAS:ProtInc
Regulation of steroid biosynthetic processManual Assertion Based On ExperimentTAS:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Sex determinationManual Assertion Based On ExperimentIMP:UniProtKB
Tissue developmentManual Assertion Based On ExperimentIBA:GO_Central

Nucleus

46,XY sex reversal 3 (SRXY3):
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
46,XX sex reversal 4 (SRXX4):
A condition in which male gonads develop in a genetic female (female to male sex reversal).
Adrenal insufficiency, NR5A1-related (AINR):
A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting.
Premature ovarian failure 7 (POF7):
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.
Spermatogenic failure 8 (SPGF8):
An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.

Acetylation stimulates the transcriptional activity.
Sumoylation reduces CDK7-mediated phosphorylation on Ser-203.
Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity.