STF-1

Full Name

STF-1

Function

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.

Biological Process

Biological Process adrenal gland developmentIEA:Ensembl
Biological Process calcineurin-mediated signalingIEA:Ensembl
Biological Process female gonad developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process hormone metabolic processIEA:Ensembl
Biological Process hormone-mediated signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Biological Process Leydig cell differentiationIEA:Ensembl
Biological Process luteinizationIEA:Ensembl
Biological Process maintenance of protein location in nucleusIEA:Ensembl
Biological Process male gonad developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process male sex determinationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process multicellular organism agingIEA:Ensembl
Biological Process negative regulation of female gonad developmentIEA:Ensembl
Biological Process positive regulation of gene expressionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of male gonad developmentManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process primary sex determinationManual Assertion Based On ExperimentTAS:ProtInc
Biological Process regulation of steroid biosynthetic processManual Assertion Based On ExperimentTAS:UniProtKB
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process response to gonadotropin-releasing hormoneIEA:Ensembl
Biological Process Sertoli cell differentiationIEA:Ensembl
Biological Process sex determinationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process tissue developmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process transcription by RNA polymerase IIIEA:Ensembl

Cellular Location

Nucleus

Involvement in disease

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.

PTM

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