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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
a) 5'-YCAAGGYC-3'
b) 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
a) XY sex reversal with or without adrenal failure
b) adrenocortical insufficiency without ovarian defect
General
nuclear hormone receptor NR5 subfamily
phosphoprotein
zinc finger protein
Properties
SIZE: entity length = 461 aa
MW = 52 kD
COMPARTMENT: cell nucleus
MOTIF: DNA-binding motif
SITE: 10-85
MOTIF: Zn finger C4-type
SITE: 13-33
EFFECTOR-BOUND: Zn+2
Zn finger C4-type
SITE: 49-73
EFFECTOR-BOUND: Zn+2
Ser phosphorylation site {S203}
Important for dimerization {230-461}
MOTIF: binding site
SITE: 260-347
FOR-BINDING-OF: ligand
binding site
SITE: 341-341
FOR-BINDING-OF: Lipid headgroup; via amide nitrogen
binding site
SITE: 436-436
FOR-BINDING-OF: Lipid headgroup
binding site
SITE: 440-440
FOR-BINDING-OF: Lipid headgroup
Database Correlations
OMIM 184757
MORBIDMAP 184757
UniProt Q13285
PFAM correlations
Entrez Gene 2516
Kegg hsa:2516
References
UniProt :accession Q13285