PQBP1

Polyglutamine binding protein 1

Identifiers

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

External IDs

OMIM: 300463 MGI: 1859638 HomoloGene: 4172 GeneCards: PQBP1 Gene

Gene Ontology
Molecular function	• DNA binding • transcription coactivator activity
Cellular component	• nucleus • nucleolus • cytoplasm
Biological process	• regulation of transcription, DNA-dependent
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

n/a

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr X:
48.76 – 48.76 Mb

Chr X:
7.47 – 7.48 Mb

PubMed search

[1]

[2]

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]

Interactions

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

References

^ 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. doi:10.1006/bbrc.1998.9725. PMID 9875212.
^ 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. doi:10.1086/383205. PMC 1181956. PMID 15024694. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1181956.
^ ^a ^b 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. (ENGLAND) 8 (6): 977–87. doi:10.1093/hmg/8.6.977. ISSN 0964-6906. PMID 10332029.
^ "OMIM: PQBP1 polyglutamine binding protein 1". http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463.
^ 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. (UNITED STATES) 274 (51): 36513–9. doi:10.1074/jbc.274.51.36513. ISSN 0021-9258. PMID 10593949.
^ ^a ^b 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 (NETHERLANDS) 257 (1): 33–43. doi:10.1016/S0378-1119(00)00372-3. ISSN 0378-1119. PMID 11054566.
^ 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 (United States) 34 (5): 701–13. doi:10.1016/S0896-6273(02)00697-9. ISSN 0896-6273. PMID 12062018.

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. doi:10.1086/301835. PMC 1377092. PMID 9545405. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377092.
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.
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. doi:10.1093/nar/27.9.1957. PMC 148407. PMID 10198427. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=148407.
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. doi:10.1093/hmg/8.6.977. 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. doi:10.1074/jbc.274.51.36513. 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. doi:10.1016/S0378-1119(00)00372-3. 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. doi:10.1016/S0378-1119(00)00437-6. 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. doi:10.1016/S0896-6273(02)00697-9. 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
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.
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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
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.

PQBP1

Interactions

References

Further reading