Recombinant Human Steroidogenic Factor 1 protein (ab114599)

Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionQ13285
    • SpeciesHuman
    • SequenceMDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCT ESQSCKIDKTQRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYK RDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPK GLAAGPPAGPLGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEP YASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQVRARILGCLQE PTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQN CWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLR AQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAA LLDYTLCHYPHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNN LLIEMLQAKQT
    • Molecular weight77 kDa including tags
    • Amino acids1 to 461

Specifications

Our Abpromise guarantee covers the use of ab114599 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.79% Tris HCl, 0.3% Glutathione

General Info

  • Alternative names
    • AD4BP
    • Adrenal 4 binding protein
    • Adrenal 4-binding protein
    • ELP
    • FTZ 1
    • FTZ1
    • FTZF 1
    • FTZF1
    • Fushi tarazu factor (Drosophila) homolog 1
    • Fushi tarazu factor homolog 1
    • NR5A1
    • Nuclear receptor AdBP4
    • Nuclear receptor subfamily 5 group A member 1
    • POF7
    • SF 1
    • SF-1
    • SF1
    • SPGF8
    • SRXY3
    • Steroid hormone receptor Ad4BP
    • Steroidogenic factor 1
    • Steroidogenic factor 1 nuclear receptor
    • STF 1
    • STF-1
    • STF1
    • STF1_HUMAN
    see all
  • FunctionTranscriptional activator. Seems to be essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3.
  • Involvement in diseaseDefects in NR5A1 are a cause of 46,XY disorder of sex development (46,XY DSD) [MIM:612965]; also known as XY sex reversal with or without adrenal failure. A congenital condition in which development of chromosomal, gonadal, or antomic sex is atypical. 46,XY DSD is a disorder of gonadal (testicular) development, which may be complete or partial. The complete form includes streak gonads, normal mullerian structures, and normal female external genitalia. The partial form includes ambiguous external genitalia and partial development of mullerian and wolffian structures.
    Defects in NR5A1 are a cause of adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]. ACIWOD is characterized by severe 'slackness' muscular hypotonia. There is decreased sodium, increased potassium and elevated ACTH.
    Defects in NR5A1 are the cause of premature ovarian failure type 7 (POF7) [MIM:612964]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
  • Sequence similaritiesBelongs to the nuclear hormone receptor family. NR5 subfamily.
    Contains 1 nuclear receptor DNA-binding domain.
  • Post-translational
    modifications
    Acetylation stimulates the transcriptional activity.
  • Cellular localizationNucleus.
  • Information by UniProt

Recombinant Human Steroidogenic Factor 1 protein images

  • ab114599 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

References for Recombinant Human Steroidogenic Factor 1 protein (ab114599)

ab114599 has not yet been referenced specifically in any publications.

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