Home News About DMDM Database Statistics Research Publications Contact  

 
  Domain Name: NR_DBD_HNF4A
DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers. DNA-binding domain of hepatocyte nuclear factor 4 (HNF4) 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. HNF4 interacts with a DNA site, composed of two direct repeats of AGTTCA with 1 bp spacer, which is upstream of target genes and modulates the rate of transcriptional initiation. HNF4 is a member of the nuclear receptor superfamily. HNF4 plays a key role in establishing and maintenance of hepatocyte differentiation in the liver. It is also expressed in gut, kidney, and pancreatic beta cells. HNF4 was originally classified as an orphan receptor, but later it is found that HNF4 binds with very high affinity to a variety of fatty acids. However, unlike other nuclear receptors, the ligands do not act as a molecular switch for HNF4. They seem to constantly bind to the receptor, which is constitutively active as a transcription activator. Like other members of the nuclear receptor (NR) superfamily of ligand-activated transcription factors, HNF4 has 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: 67
Total Disease Mutations Found: 48
This domain occurred 46 times on human genes (191 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
  PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
  RETINITIS PIGMENTOSA 37
  VITAMIN D-DEPENDENT RICKETS, TYPE 2A


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 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:
zinc binding site
DNA binding site
homodimer interface










Weblogos are Copyright (c) 2002 Regents of the University of California




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.

   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258