steroidogenic factor 1; STF-1; SF-1; nuclear receptor subfamily 5 group A member 1; adrenal 4-binding protein; steroid hormone receptor Ad4BP; fushi tarazu factor homolog 1 (NR5A1, AD4BP, FTZF1, SF1)

Function

• transcriptional activator
• role in sexual differentiation & formation of primary steroidogenic tissues
• binds to the Ad4 site found in the promoter region of steroidogenic P-450 genes such as CYP11A, CYP11B & CYP21B
• regulates Muellerian inhibiting substance (AMH) gene as well as the AHCH & STAR genes
• recognizes consensus sequences
  • 5'-YCAAGGYC-3'
  • 5'-RRAGGTCA-3'
• SFPQ-NONO-NR5A1/SF-1 complex binds to the CYP17 promoter & regulates basal & cAMP-dependent transcriptional activity
• binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 & PI(3,4,5)P3
• binds DNA as a monomer
• interacts with NR0B2
• part of a complex consisting of SFPQ, NONO & NR5A1/SF-1
• interacts with NCOA2
• acetylation stimulates the transcriptional activity

Structure

• belongs to the nuclear hormone receptor family, NR5 subfamily
• contains 1 nuclear receptor DNA-binding domain

Compartment

nucleus

Pathology

• defects in NR5A1 are a cause of
  • XY sex reversal with or without adrenal failure
  • adrenocortical insufficiency without ovarian defect

More general terms

• nuclear hormone receptor NR5 subfamily
• zinc finger protein
• phosphoprotein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2516
• OMIM: https://mirror.omim.org/entry/184757
• UniProt: http://www.uniprot.org/uniprot/Q13285.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2516