Rabbit anti-Human Steroidogenic factor-1 (SF-1/NR5A1) Monoclonal Antibody

Uniprot Id

Q13285

Target Species

Human

Target Name

NR5A1

Target Full Name

Steroidogenic factor 1

Target Function

Transcriptional activator. 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 activity. Binds phosphatidylcholine. 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.

Target Involvement

46,XY sex reversal 3 (SRXY3); 46,XX sex reversal 4 (SRXX4); Adrenal insufficiency, NR5A1-related (AINR); Premature ovarian failure 7 (POF7); Spermatogenic failure 8 (SPGF8)

Target Subcellular Location

Nucleus.

Target Protein Families

Nuclear hormone receptor family, NR5 subfamily

Target Tissue Specificity

High expressed in the adrenal cortex, the ovary, the testis, and the spleen.

Target Research Area

Developmental Biology

Target Synonyms

NR5A1; AD4BP; FTZF1; SF1; 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

Target Background

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.