PQBP1

From Wikipedia, the free encyclopedia

Polyglutamine binding protein 1

Identifiers

PQBP1; MRXS3; SHS; MRX55; MRXS8; NPW38; RENS1

External IDs

OMIM: 300463 MGI: 1859638 HomoloGene: 4172

Gene ontology
Molecular Function:	• DNA binding • transcription coactivator activity
Cellular Component:	• nucleus
Biological Process:	• transcription • regulation of transcription, DNA-dependent

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_001032381 (mRNA)
NP_001027553 (protein)

NM_019478 (mRNA)
NP_062351 (protein)

Location

Chr X: 48.64 - 48.65 Mb

n/a

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: PQBP1 polyglutamine binding protein 1.

[edit] 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.