{PDOC51139}
{PS51139; GTF2I}
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* GTF2I-like repeat profile *
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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 [1-5].

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.

-Sequences known to belong to this class detected by the profile: ALL.
-Other sequence(s) detected in Swiss-Prot: NONE.

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

-Last update: July 2005 / First entry.

[ 1] Roy A.L., Du H., Gregor P.D., Novina C.D., Martinez E., Roeder R.G.
     "Cloning of an inr- and E-box-binding protein, TFII-I, that interacts
     physically and functionally with USF1."
     EMBO J. 16:7091-7104(1997).
     PubMed=9384587; DOI=10.1093/emboj/16.23.7091
[ 2] Bayarsaihan D., Ruddle F.H.
     "Isolation and characterization of BEN, a member of the TFII-I family
     of DNA-binding proteins containing distinct helix-loop-helix
     domains."
     Proc. Natl. Acad. Sci. U.S.A. 97:7342-7347(2000).
     PubMed=10861001; DOI=97/13/7342
[ 3] Hinsley T.A., Cunliffe P., Tipney H.J., Brass A., Tassabehji M.
     "Comparison of TFII-I gene family members deleted in Williams-Beuren
     syndrome."
     Protein Sci. 13:2588-2599(2004).
     PubMed=15388857; DOI=10.1110/ps.04747604
[ 4] Vullhorst D., Buonanno A.
     "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."
     J. Biol. Chem. 280:0-0(2005).
     PubMed=15987678; DOI=10.1074/jbc.M500593200

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