PROSITE documentation PDOC51139GTF2I-like repeat profile
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.
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PROSITE method (with tools and information) covered by this documentation:
| 1 | Authors | Roy A.L. Du H. Gregor P.D. Novina C.D. Martinez E. Roeder R.G. |
| Title | Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1. | |
| Source | EMBO J. 16:7091-7104(1997). | |
| PubMed ID | 9384587 | |
| DOI | 10.1093/emboj/16.23.7091 |
| 2 | Authors | Bayarsaihan D. Ruddle F.H. |
| Title | Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains. | |
| Source | Proc. Natl. Acad. Sci. U.S.A. 97:7342-7347(2000). | |
| PubMed ID | 10861001 | |
| DOI | 97/13/7342 |
| 3 | Authors | Hinsley T.A. Cunliffe P. Tipney H.J. Brass A. Tassabehji M. |
| Title | Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. | |
| Source | Protein Sci. 13:2588-2599(2004). | |
| PubMed ID | 15388857 | |
| DOI | 10.1110/ps.04747604 |
| 4 | Authors | Vullhorst D. Buonanno A. |
| Title | Multiple GTF2I-like repeats of general transcription factor 3 exhibit DNA binding properties: Evidence for a common origin as a sequence-specific DNA interaction module. | |
| Source | J. Biol. Chem. 280:0-0(2005). | |
| PubMed ID | 15987678 | |
| DOI | 10.1074/jbc.M500593200 |
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