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Steroidogenic Factor 1 (SF1)

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NR5A1; AD4BP; NR5-A1; AD4-BP; ELP; FTZ1; FTZF1; SF1; Nuclear Receptor Subfamily 5,Group A,Member 1; Adrenal 4-binding protein; Fushi tarazu factor homolog 1

Steroidogenic Factor 1 (SF1)
CCC C229
HGNC 7983
MGI 1346833
PubMed 20595937
RGD 68350
UniProt Q13285
Wiki SF1
SF-1 is critical regulator of reproduction because it regulates the transcription of key genes involved in sexual development and reproduction. Its targets include genes at every level of the hypothalamic-pituitary-gonadal axis, as well as many genes involved in gonadal and adrenal steroidogenesis. Mutations in NR5A1 can produce intersex genitals, absence of puberty, and infertility.
It is one cause of arrest of ovarian function in women <40 years of age, which occurs in 1% of all women.Missense, in-frame and frameshift mutations of NR5A1 have been found in families with 46,XY disorders of sex development, 46,XX gonadal dysgenesis and 46,XX primary ovarian insufficiency. 46,XY individuals may have ambiguous or female genitals.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Steroidogenic Factor 1 (SF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Steroidogenic Factor 1 (SF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Steroidogenic Factor 1 (SF1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Steroidogenic Factor 1 (SF1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Steroidogenic Factor 1 (SF1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Steroidogenic Factor 1 (SF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Steroidogenic Factor 1 (SF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Steroidogenic Factor 1 (SF1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Steroidogenic Factor 1 (SF1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Steroidogenic Factor 1 (SF1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Steroidogenic Factor 1 (SF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Steroidogenic Factor 1 (SF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Steroidogenic Factor 1 (SF1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Steroidogenic Factor 1 (SF1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Steroidogenic Factor 1 (SF1) ELISA Kit Customized Service Offer
  1. "Structural characterization of human Ad4bp (SF-1) gene."Biochem. Biophys. Res. Commun. 226:261-267(1996) [PubMed] [Europe PMC] [Abstract]
  2. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress."Mol. Cell 3:521-526(1999) [PubMed] [Europe PMC] [Abstract]
  5. "Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5."J. Biol. Chem. 276:37659-37664(2001) [PubMed] [Europe PMC] [Abstract]
  6. "Transcriptional activation of human CYP17 in H295R adrenocortical cells depends on complex formation among p54(nrb)/NonO, protein-associated splicing factor, and SF-1, a complex that also participates in repression of transcription."Endocrinology 143:1280-1290(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9."Mol. Endocrinol. 18:2451-2462(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Cyclic AMP stimulates SF-1-dependent CYP11A1 expression through homeodomain-interacting protein kinase 3-mediated Jun N-terminal kinase and c-Jun phosphorylation."Mol. Cell. Biol. 27:2027-2036(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17."Mol. Cell. Biol. 27:6669-6685(2007) [PubMed] [Europe PMC] [Abstract]
  10. "Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7."Mol. Endocrinol. 22:91-104(2008) [PubMed] [Europe PMC] [Abstract]
  11. "SUMOylation inhibits SF-1 activity by reducing CDK7-mediated serine 203 phosphorylation."Mol. Cell. Biol. 29:613-625(2009) [PubMed] [Europe PMC] [Abstract]
  12. "Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1."Cell 120:343-355(2005) [PubMed] [Europe PMC] [Abstract]
  13. "The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1."Proc. Natl. Acad. Sci. U.S.A. 102:7505-7510(2005) [PubMed] [Europe PMC] [Abstract]
  14. "A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans."Nat. Genet. 22:125-126(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency."Am. J. Hum. Genet. 67:1563-1568(2000) [PubMed] [Europe PMC] [Abstract]
  16. "Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner."J. Clin. Endocrinol. Metab. 87:1829-1833(2002) [PubMed] [Europe PMC] [Abstract]
  17. "Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function."J. Clin. Endocrinol. Metab. 92:991-999(2007) [PubMed] [Europe PMC] [Abstract]
  18. "Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency."Hum. Mutat. 29:59-64(2008) [PubMed] [Europe PMC] [Abstract]
  19. "Mutations in NR5A1 associated with ovarian insufficiency."N. Engl. J. Med. 360:1200-1210(2009) [PubMed] [Europe PMC] [Abstract]
  20. "Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1."Am. J. Hum. Genet. 87:505-512(2010) [PubMed] [Europe PMC] [Abstract]