Host: E. coli • AA: 218-461 • Tag: N-terminal His • MW: 31.01 kDa
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NR5A1 (C247S, C412S mutant; human, recombinant)

Item No. 41072

Product Insert (PDF)
Technical Information
Synonyms
  • Ad4BP
  • Adrenal 4-binding Protein
  • Fushi Tarazu Factor Homolog 1
  • Nuclear Receptor Subfamily 5 Group A Member 1
  • SF-1
  • Steroidogenic Factor 1
Source
Recombinant human N-terminal His-tagged NR5A1 (C247S, C412S mutant) expressed in E. coli
Amino Acids
218-461
MW
31.01 kDa
Formulation (Request formulation change)
20 mM Tris-HCl, pH 8.5, with 1 mM TCEP and 150 mM sodium chloride
UniProt Accession №
Q13285
Shipping & Storage Information
Storage
-80°C
Shipping
Dry ice in continental US; may vary elsewhere
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    100 µg

    $906

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    500 µg

    $3,090

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    Product Description

    Nuclear receptor subfamily 5 group A member 1 (NR5A1) is a nuclear receptor and member of fushi tarazu factor 1 subfamily of nuclear proteins.1,2 NR5A1 monomers are composed of a hinge region, corepressor or coactivator binding site, a DNA-binding domain, and a hydrophobic ligand-binding domain, which can associate with different types of lipids, such as phosphatidylcholine, phosphatidylethanolamine, or phosphatidylglycerol, to activate steroidogenic gene expression.1,2,3 Additional post-translational modifications, including phosphorylation, acetylation, and SUMOylation, are necessary for coactivator or corepressor binding and transcriptional activity or repression, respectively.1 NR5A1 is critical in embryonic and pubescent sexual organ development and is expressed in the testes, ovaries, hypothalamus, and spleen, as well as pituitary and adrenal glands.2,4 Mutations in NR5A1 are associated with low testosterone levels, androgyny, male infertility, malformed testes, ovarian dysfunction, and adrenal insufficiency.4,5,6 Cayman’s NR5A1 (C247S, C412S mutant; human, recombinant) protein consists of 243 amino acids and has a calculated molecular weight of 31.01 kDa.

    WARNING This product is not for human or veterinary use.

    References & Product Citations
    Product Description References

    1. Urs, A.N., Dammer, E., Kelly, S., et al. Steroidogenic factor-1 is a sphingolipid binding protein. Mol. Cell. Endocrinol. 265-266, 174-178 (2007).

    2. Wang, W., Zhang, C., Marimuthu, A., et al. The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. Proc. Natl. Acad. Sci. USA 102(21), 7505-7510 (2005).

    3. Sablin, E.P., Blind, R.D., Krylova, I.N., et al. Structure of SF-1 bound by different phospholipids: Evidence for regulatory ligands. Mol. Endocrinol. 23(1), 25-34 (2009).

    4. Fabbri-Scallet, H., de Sousa, L.M., Maciel-Guerra, A.T., et al. Mutation update for the NR5A1 gene involved in DSD and infertility. Hum. Mutat. 41(1), 58-68 (2020).

    5. Köhler, B., Lin, L., Ferraz-de-Souza, B., et al. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum. Mutat. 29(1), 59-64 (2008).

    6. Lourenço, D., Brauner, R., Lin, L., et al. Mutations in NR5A1 associated with ovarian insufficiency. N. Engl. J. Med. 360(12), 1200-1210 (2009).