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  Domain Name: NR_DBD_Lrh-1_like
The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers. The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers. Each zinc finger contains a group of four Cys residues which co-ordinates a single zinc atom. This domain interacts with specific DNA sites upstream of the target gene and modulates the rate of transcriptional initiation. This nuclear receptor family includes at least three subgroups of receptors that function in embryo development and differentiation, and other processes. FTZ-F1 interacts with the cis-acting DNA motif of ftz gene, which is required at several stages of development. Particularly, FTZ-F1 regulated genes are strongly linked to steroid biosynthesis and sex-determination; LRH-1 is a regulator of bile-acid homeostasis, steroidogenesis, reverse cholesterol transport and the initial stages of embryonic development; SF-1 is an essential regulator of endocrine development and function and is considered a master regulator of reproduction; SF-1 functions cooperatively with other transcription factors to modulate gene expression. Phospholipids have been identified as potential ligand for LRH-1 and steroidogenic factor-1 (SF-1). However, the ligand for FTZ-F1 has not yet been identified. Most nuclear receptors function as homodimer or heterodimers. However, LRH-1 and SF-1 bind to DNA as monomers. Like other members of the nuclear receptor (NR) superfamily of ligand-activated transcription factors, receptors in this family have a central well conserved DNA-binding domain (DBD), a variable N-terminal domain, a flexible hinge and a C-terminal ligand binding domain (LBD).
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 86
Total Disease Mutations Found: 57
This domain occurred 46 times on human genes (190 proteins).



  46,XY SEX REVERSAL 3
  ANDROGEN INSENSITIVITY SYNDROME
  ANDROGEN INSENSITIVITY, COMPLETE
  ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
  ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER
  ENHANCED S-CONE SYNDROME
  GLUCOCORTICOID RESISTANCE, GENERALIZED
  HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
  MICROPHTHALMIA, SYNDROMIC 12
  PROSTATE CANCER
  PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
  RETINITIS PIGMENTOSA 37
  VITAMIN D-DEPENDENT RICKETS, TYPE 2A


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
zinc binding site
DNA binding site










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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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