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Polyglutamine-binding protein 1 is a protein that in humans is encoded by the PQBP1 gene.[1][2][3]

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][4]

InteractionsEdit

PQBP1 has been shown to interact with WBP11,[5][6] POU3F2,[3] POLR2A[7] and TXNL4A.[6]

ReferencesEdit

  1. Imafuku I, Waragai M, Takeuchi S, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (Oct 1998). Polar amino acid-rich sequences bind to polyglutamine tracts. Biochem Biophys Res Commun 253 (1): 16–20.
  2. Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE (Mar 2004). Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet 74 (4): 777–80.
  3. 3.0 3.1 Waragai, M, Lammers C H, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian M M, Okazawa H (Jun. 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.
  4. OMIM: PQBP1 polyglutamine binding protein 1.
  5. Komuro, A, Saeki M, Kato S (Dec. 1999). 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.
  6. 6.0 6.1 Zhang, Y, Lindblom T, Chang A, Sudol M, Sluder A E, Golemis E A (Oct. 2000). 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.
  7. Okazawa, Hitoshi, Rich Tina, Chang Alex, Lin Xi, Waragai Masaaki, Kajikawa Masunori, Enokido Yasushi, Komuro Akihiko, Kato Seishi, Shibata Masao, Hatanaka Hiroshi, Mouradian M Maral, Sudol Marius, Kanazawa Ichiro (May. 2002). Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron 34 (5): 701–13.

Further readingEdit


  • 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.



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