Recombinant Human Steroidogenic factor 1 (NR5A1) Protein

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

Subcellular Location

Nucleus

Disease Association

46,XY sex reversal 3 (SRXY3) : A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. [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). [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. [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. [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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed:9177385)

Subunit

Binds DNA as a monomer. Interacts with NR0B2 and PPARGC1A (By similarity). Part of a complex consisting of SFPQ, NONO and NR5A1. Interacts with NCOA2. Interacts with DGKQ and CDK7. Binds to and activated by HIPK3

• Oba K. et al. Structural characterization of human Ad4bp (SF-1) gene. — Biochem. Biophys. Res. Commun. (1996)
• Wong M. et al. Cloning and sequence analysis of the human gene encoding steroidogenic factor 1. — J. Mol. Endocrinol. (1996)
• Santa Barbara P. et al. Cloning and characterization of the human steroidogenic factor 1 (SF-1) cDNA. (APR-)
• Humphray S.J. et al. DNA sequence and analysis of human chromosome 9. — Nature (2004)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Yeh J.R. et al. Human SF1 genomic segment. (JUL-)
• Ramayya M.S. et al. Steroidogenic factor 1 messenger ribonucleic acid expression in steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ hybridization studies. — J. Clin. Endocrinol. Metab. (1997)