NR5A1 Peptide - Middle Region Blocking Peptide

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. [provided by RefSeq, Jul 2008]

STF-1: a nuclear hormone receptor of the NR5 subfamily. Essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P-450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the Muellerian inhibiting substance (AMH) gene as well as the AHCH and STAR genes.

Protein type: Nuclear receptor

Chromosomal Location of Human Ortholog: 9q33

Cellular Component: nucleoplasm; nucleus

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; ligand-dependent nuclear receptor activity; enzyme binding; DNA binding; zinc ion binding; sequence-specific DNA binding; transcription coactivator activity; double-stranded DNA binding; steroid hormone receptor activity; phospholipid binding; chromatin binding

Biological Process: transcription initiation from RNA polymerase II promoter; tissue development; intracellular receptor-mediated signaling pathway; adrenal gland development; primary sex determination; male gonad development; multicellular organismal aging; regulation of steroid biosynthetic process; cell-cell signaling; luteinization; hormone metabolic process; gene expression; positive regulation of transcription from RNA polymerase II promoter; steroid hormone mediated signaling; maintenance of protein localization in nucleus; cell differentiation

Disease: Premature Ovarian Failure 7; 46,xy Sex Reversal 3; Spermatogenic Failure 8