Structural highlights
Disease
[PQBP1_HUMAN] X-linked intellectual deficit, Sutherland-Haan type;X-linked intellectual deficit, Golabi-Ito-Hall type;X-linked intellectual deficit, Porteous type;Hamel cerebro-palato-cardiac syndrome. The disease is caused by mutations affecting the gene represented in this entry.
Function
[PQBP1_HUMAN] May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit.[1] [2] [3] [TXN4A_HUMAN] Essential role in pre-mRNA splicing.
See Also
References
- ↑ Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H. PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. Hum Mol Genet. 1999 Jun;8(6):977-87. PMID:10332029
- ↑ Komuro A, Saeki M, Kato S. Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription. Nucleic Acids Res. 1999 May 1;27(9):1957-65. PMID:10198427
- ↑ Okazawa H, Rich T, Chang A, Lin X, Waragai M, Kajikawa M, Enokido Y, Komuro A, Kato S, Shibata M, Hatanaka H, Mouradian MM, Sudol M, Kanazawa I. Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron. 2002 May 30;34(5):701-13. PMID:12062018
