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| Instance ID | 12207 | | Regular Expression | (Rx{1,3}PPGPPP)|(PPGPPPx{1,3}R)|(Rx{1,3}PPGPPPx{1,3}R) | | Motif Instance | RLLPPGPPPGR | | Bait Uniprot Accession | Q9Y2W2 | | Bait Uniprot Identifier | WBP11_HUMAN | | Bait Gene Name | WBP11 | | Bait Organism | Homo sapiens (Human) | | Sequence Position | 456-466 | | Critical Residues | P1; P11 | | Motif PTM(s) | Unknown | | Secondary Structure | Unknown | | Experimental Method(s) | SPOT Analysis; Pull down(GST tag); Y2H; Co-IP | | Interaction ID | 22207 | | Interacting Domain | WW domain | | Disease Association(s) | Golabi-Ito-Hall syndrome | | Inhibitor(s) | Unknown | | Reference(s) | 10593949, 20410308 | | Comments | Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 (polyglutamine tract-binding protein 1 or Npw38) affects its binding to WBP-11 (WW domain-binding protein 11 or NpwBP) via a novel proline-rich motif (456-466) and deregulates pre-mRNA splicing |
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