Home  |  Contact
PROSITE documentation PDOC51139

GTF2I-like repeat profile





Description

The GTF2I-like repeats are specific to the TFII-I family of transcription factors and have a putative helix-loop-helix (HLH) structure with an unusually large loop of around 40 residues. The transcription factors of the TFII-I family contain both a putative leucine zipper (LZ) and GTF2I-like repeats. They are the main candidates for the pathology of Wiliams-Beuren syndrome (WBS), a neurological disorder associated with physical, behavioral, and cognitive abnormalities. GTF2I-like repeats are likely to be involved in DNA binding [1,2,3,4,5].

The highly conserved 75 amino acids that constitute the core of the putative HLH of the GTF2I-like repeats are flanked on each side by 10 poorly conserved residues [4].

Some proteins known to contain a GTF2I-like repeat are listed below:

  • Vertebrate GTF2I, containing an LZ and six GTF2I-like repeats.
  • Vertebrate GTF2IRD1, containing an LZ and five GTF2I-like repeats, with an additional sixth GTF2I repeat present in some isoforms of the mouse ortholog.
  • Vertebrate GTF2IRD2, containing an LZ and two GTF2I-like repeats.

The profile we developed covers the entire GTF2I-like repeat.

Note:

The GTF2I-like repeat has also been called I-repeat [3].

Last update:

July 2005 / First entry.

-------------------------------------------------------------------------------

Technical section

PROSITE method (with tools and information) covered by this documentation:

GTF2I, PS51139; GTF2I-like repeat profile  (MATRIX)


References

1AuthorsRoy A.L. Du H. Gregor P.D. Novina C.D. Martinez E. Roeder R.G.
TitleCloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1.
SourceEMBO J. 16:7091-7104(1997).
PubMed ID9384587
DOI10.1093/emboj/16.23.7091

2AuthorsBayarsaihan D. Ruddle F.H.
TitleIsolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains.
SourceProc. Natl. Acad. Sci. U.S.A. 97:7342-7347(2000).
PubMed ID10861001
DOI97/13/7342

3AuthorsHinsley T.A. Cunliffe P. Tipney H.J. Brass A. Tassabehji M.
TitleComparison of TFII-I gene family members deleted in Williams-Beuren syndrome.
SourceProtein Sci. 13:2588-2599(2004).
PubMed ID15388857
DOI10.1110/ps.04747604

4AuthorsVullhorst D. Buonanno A.
TitleMultiple GTF2I-like repeats of general transcription factor 3 exhibit DNA binding properties: Evidence for a common origin as a sequence-specific DNA interaction module.
SourceJ. Biol. Chem. 280:0-0(2005).
PubMed ID15987678
DOI10.1074/jbc.M500593200



PROSITE is copyrighted by the SIB Swiss Institute of Bioinformatics and distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives (CC BY-NC-ND 4.0) License, see prosite_license.html.

Miscellaneous

View entry in original PROSITE document format
View entry in raw text format (no links)