PQBP1

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Polyglutamine-binding protein 1 is a protein that in humans is encoded by the PQBP1 gene.

It can be associated with Renpenning's syndrome.

PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain (Waragai et al., 1999).[supplied by OMIM]

Interactions

PQBP1 has been shown to interact with WBP11, POU3F2, POLR2A and TXNL4A.

Further reading

• Fox P, Fox D, Gerrard JW (1981). X-linked mental retardation: Renpenning revisited.. Am. J. Med. Genet. 7 (4): 491–5.
• Stevenson RE, Arena JF, Ouzts E, et al. (1998). Renpenning syndrome maps to Xp11.. Am. J. Hum. Genet. 62 (5): 1092–101.
• Deqaqi SC, N'Guessan M, Forner J, et al. (1998). A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11.. Ann. Genet. 41 (1): 11–6.
• Komuro A, Saeki M, Kato S (1999). Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription.. Nucleic Acids Res. 27 (9): 1957–65.
• Waragai M, Lammers CH, Takeuchi S, et al. (1999). PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival.. Hum. Mol. Genet. 8 (6): 977–87.
• Komuro A, Saeki M, Kato S (2000). Association of two nuclear proteins, Npw38 and NpwBP, via the interaction between the WW domain and a novel proline-rich motif containing glycine and arginine.. J. Biol. Chem. 274 (51): 36513–9.
• Waragai M, Junn E, Kajikawa M, et al. (2000). PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain.. Biochem. Biophys. Res. Commun. 273 (2): 592–5.
• Zhang Y, Lindblom T, Chang A, et al. (2001). Evidence that dim1 associates with proteins involved in pre-mRNA splicing, and delineation of residues essential for dim1 interactions with hnRNP F and Npw38/PQBP-1.. Gene 257 (1): 33–43.
• Iwamoto K, Huang Y, Ueda S (2001). Genomic organization and alternative transcripts of the human PQBP-1 gene.. Gene 259 (1-2): 69–73.
• Okazawa H, Rich T, Chang A, et al. (2002). Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death.. Neuron 34 (5): 701–13.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.
• Kalscheuer VM, Freude K, Musante L, et al. (2004). Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.. Nat. Genet. 35 (4): 313–5.
• Brandenberger R, Wei H, Zhang S, et al. (2005). Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.. Nat. Biotechnol. 22 (6): 707–16.
• Kleefstra T, Franken CE, Arens YH, et al. (2005). Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).. Clin. Genet. 66 (4): 318–26.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).. Genome Res. 14 (10B): 2121–7.
• Andersen JS, Lam YW, Leung AK, et al. (2005). Nucleolar proteome dynamics.. Nature 433 (7021): 77–83.
• Stevenson RE, Bennett CW, Abidi F, et al. (2005). Renpenning syndrome comes into focus.. Am. J. Med. Genet. A 134 (4): 415–21.
• Marubuchi S, Wada Y, Okuda T, et al. (2005). Polyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stress.. J. Neurochem. 95 (3): 858–70.