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  Domain Name: NR_LBD_SHP
The ligand binding domain of DAX1 protein, a nuclear receptor lacking DNA binding domain. The ligand binding domain of the Small Heterodimer Partner (SHP): SHP is a member of the nuclear receptor superfamily. SHP has a ligand binding domain, but lacks the DNA binding domain, typical to almost all of the nuclear receptors. It functions as a transcriptional coregulator by directly interacting with other nuclear receptors through its AF-2 motif. The closest relative of SHP is DAX1 and they can form heterodimer. SHP is an orphan receptor, lacking an identified ligand.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 45
Total Disease Mutations Found: 26
This domain occurred 19 times on human genes (68 proteins).



  46,XY SEX REVERSAL 3
  ADRENAL HYPOPLASIA, CONGENITAL
  ADRENOCORTICAL INSUFFICIENCY
  ENHANCED S-CONE SYNDROME
  GOLDMANN-FAVRE SYNDROME, INCLUDED
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
  OBESITY, MILD, EARLY-ONSET
  PREMATURE OVARIAN FAILURE 7, INCLUDED


Tips:
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 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
putative ligand binding s
putative coactivator reco
heterotrimer interface













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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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