PQBP1

Polyglutamine binding protein 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PQBP1 ; MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
External IDs OMIM: 300463 MGI: 1859638 HomoloGene: 4172 GeneCards: PQBP1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 10084 54633
Ensembl ENSG00000102103 ENSMUSG00000031157
UniProt O60828 Q91VJ5
RefSeq (mRNA) NM_001032381 NM_001252528
RefSeq (protein) NP_001027553 NP_001239457
Location (UCSC) Chr X:
48.9 – 48.9 Mb		 Chr X:
7.89 – 7.9 Mb
PubMed search

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.

Function

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:

References

  1. ↑ Imafuku I, Waragai M, Takeuchi S, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (October 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.
  2. ↑ Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE (March 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.
  3. 1 2 Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (June 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.
  4. ↑ "OMIM: PQBP1 polyglutamine binding protein 1".
  5. ↑ Okazawa H, Rich T, Chang A, Lin X, Waragai M, Kajikawa M, Enokido Y, Komuro A, Kato S, Shibata M, Hatanaka H, Mouradian MM, Sudol M, Kanazawa I (May 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.
  6. 1 2 Zhang Y, Lindblom T, Chang A, Sudol M, Sluder AE, Golemis EA (October 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. doi:10.1016/s0378-1119(00)00372-3. PMID 11054566.
  7. ↑ Komuro A, Saeki M, Kato S (December 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. doi:10.1074/jbc.274.51.36513. PMID 10593949.

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, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE (1998). "Renpenning syndrome maps to Xp11.". Am. J. Hum. Genet. 62 (5): 1092–101. doi:10.1086/301835. PMC 1377092. PMID 9545405. 
  • Deqaqi SC, N'Guessan M, Forner J, Sbiti A, Beldjord C, Chelly J, Sefiani A, Des Portes V (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. 
  • Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (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, Takeuchi S, Kanazawa I, Shibata M, Mouradian MM, Okazawa H (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, Sudol M, Sluder AE, Golemis EA (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, Lin X, Waragai M, Kajikawa M, Enokido Y, Komuro A, Kato S, Shibata M, Hatanaka H, Mouradian MM, Sudol M, Kanazawa I (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. 
  • Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH (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, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (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, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC (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. 
  • Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (2005). "Nucleolar proteome dynamics.". Nature 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413. 
  • Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE (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, Hara Y, Qi ML, Hoshino M, Nakagawa M, Kanazawa I, Okazawa H (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. 

External links


This article is issued from Wikipedia - version of the Sunday, August 02, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.