PQBP1
| Polyglutamine binding protein 1 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | PQBP1 ; MRXS3; SHS; MRX55; MRXS8; NPW38; RENS1 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 4172 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PQBP1 207769 s at tn.png | |||||||||||
| File:PBB GE PQBP1 214527 s at tn.png | |||||||||||
| File:PBB GE PQBP1 210499 s at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Polyglutamine binding protein 1, also known as PQBP1, is a human gene.[1]
PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain (Waragai et al., 1999).[supplied by OMIM][1]
References
Further reading
- Fox P, Fox D, Gerrard JW (1981). "X-linked mental retardation: Renpenning revisited". Am. J. Med. Genet. 7 (4): 491–5. doi:10.1002/ajmg.1320070409. PMID 7211958.
- Stevenson RE, Arena JF, Ouzts E; et al. (1998). "Renpenning syndrome maps to Xp11". Am. J. Hum. Genet. 62 (5): 1092–101. PMID 9545405.
- 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. PMID 9599645.
- Imafuku I, Waragai M, Takeuchi S; et al. (1999). "Polar amino acid-rich sequences bind to polyglutamine tracts". Biochem. Biophys. Res. Commun. 253 (1): 16–20. doi:10.1006/bbrc.1998.9725. PMID 9875212.
- 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. PMID 10198427.
- 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. PMID 10332029.
- 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. PMID 10593949.
- 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. doi:10.1006/bbrc.2000.2992. PMID 10873650.
- 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. PMID 11054566.
- Iwamoto K, Huang Y, Ueda S (2001). "Genomic organization and alternative transcripts of the human PQBP-1 gene". Gene. 259 (1–2): 69–73. PMID 11163963.
- 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. PMID 12062018.
- 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. doi:10.1073/pnas.242603899. PMID 12477932.
- 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. doi:10.1038/ng1264. PMID 14634649.
- Lenski C, Abidi F, Meindl A; et al. (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. PMID 15024694.
- 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. doi:10.1038/nbt971. PMID 15146197.
- 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. doi:10.1111/j.1399-0004.2004.00308.x. PMID 15355434.
- 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. doi:10.1101/gr.2596504. PMID 15489334.
- Andersen JS, Lam YW, Leung AK; et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.
- Stevenson RE, Bennett CW, Abidi F; et al. (2005). "Renpenning syndrome comes into focus". Am. J. Med. Genet. A. 134 (4): 415–21. doi:10.1002/ajmg.a.30664. PMID 15782410.
- 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. doi:10.1111/j.1471-4159.2005.03405.x. PMID 16104847.
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