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.
46,XY sex reversal 3
SRXY3
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
None
The disease is caused by variants affecting the gene represented in this entry.
46,XX sex reversal 4
SRXX4
A condition in which male gonads develop in a genetic female (female to male sex reversal).
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Spermatogenic failure 8
SPGF8
An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.
None
The disease is caused by variants affecting the gene represented in this entry.
Acetylation stimulates the transcriptional activity.
Sumoylation reduces CDK7-mediated phosphorylation on Ser-203.
Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity.
Belongs to the nuclear hormone receptor family. NR5 subfamily.
High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed:9177385).
AD4BP, FTZF1, SF1, NR5A1, Steroidogenic factor 1, SF-1, STF-1, hSF-1, Adrenal 4-binding protein, Fushi tarazu factor homolog 1, Nuclear receptor subfamily 5 group A member 1, Steroid hormone receptor Ad4BP
Proteins
Epigenetics
51636Da
We found 9 products in 2 categories
ab240394
Anti-Steroidogenic Factor 1/SF-1 antibody [EPR19744] - BSA and Azide free