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Gene Review

PQBP1  -  polyglutamine binding protein 1

Homo sapiens

Synonyms: 38 kDa nuclear protein containing a WW domain, JM26, MRX2, MRX55, MRXS3, ...
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Disease relevance of PQBP1


Psychiatry related information on PQBP1


High impact information on PQBP1


Chemical compound and disease context of PQBP1


Biological context of PQBP1


Anatomical context of PQBP1

  • Interestingly, the WW domain of Npw38 was found to function as a transcriptional activator in CHO cells using the GAL4 DNA-binding fusion system [15].
  • Interestingly, PQBP-1 also forms nuclear inclusion bodies, which are similar to those nucleated by the protein products of polyglutamine disease genes [16].

Associations of PQBP1 with chemical compounds

  • The binding analysis using an oligopeptide-immobilized membrane revealed that the WW domain of Npw38 preferentially recognizes a short proline-rich sequence, PPGPPP, surrounded by an arginine residue, so we named it a PGR motif [17].
  • RESULTS: A missense mutation in PQBP1 was identified which changed the conserved tyrosine residue in the WW domain at position 65 to a cysteine (p.Y65C) [13].
  • Therapy consisted of a diet low in protein from natural foods (daily methionine intake 130-150 mg) and a synthetic amino acid mixture (50 g per day) without cystine and methionine (Xmet, Cys Maxamaid, SHS International Ltd) [18].

Physical interactions of PQBP1

  • Conversely, mutant htt does not promote the fibrillogenesis of the polyQ-containing protein NOCT3 or the polyQ-binding protein PQBP1, although these proteins are recruited into inclusions containing mutant htt aggregates in mammalian cells [19].

Other interactions of PQBP1

  • Among the genes included within the duplicated region, and particularly those which are outside copy number polymorphisms, we discuss the relationship of FTSJ1, PQBP1 and HDAC6 with the clinical symptoms of our patient [20].
  • The clinical similarity of our family to these patients with mutations in PQBP1, particularly the presence of microcephaly, short stature, and atrial septal defect, prompted examination of this gene [13].

Analytical, diagnostic and therapeutic context of PQBP1

  • Both health surveys were conducted in 2002 using probability sampling-i.e., time-space sampling (GGMHS) and household probability telephone sampling (SHS) [5].


  1. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Kalscheuer, V.M., Freude, K., Musante, L., Jensen, L.R., Yntema, H.G., Gécz, J., Sefiani, A., Hoffmann, K., Moser, B., Haas, S., Gurok, U., Haesler, S., Aranda, B., Nshedjan, A., Tzschach, A., Hartmann, N., Roloff, T.C., Shoichet, S., Hagens, O., Tao, J., Van Bokhoven, H., Turner, G., Chelly, J., Moraine, C., Fryns, J.P., Nuber, U., Hoeltzenbein, M., Scharff, C., Scherthan, H., Lenzner, S., Hamel, B.C., Schweiger, S., Ropers, H.H. Nat. Genet. (2003) [Pubmed]
  2. Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. Cossée, M., Demeer, B., Blanchet, P., Echenne, B., Singh, D., Hagens, O., Antin, M., Finck, S., Vallee, L., Dollfus, H., Hegde, S., Springell, K., Thelma, B.K., Woods, G., Kalscheuer, V., Mandel, J.L. Eur. J. Hum. Genet. (2006) [Pubmed]
  3. Polyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stress. Marubuchi, S., Wada, Y., Okuda, T., Hara, Y., Qi, M.L., Hoshino, M., Nakagawa, M., Kanazawa, I., Okazawa, H. J. Neurochem. (2005) [Pubmed]
  4. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. Mart??nez-Garay, I., Tom??s, M., Oltra, S., Ramser, J., Molt??, M.D., Prieto, F., Meindl, A., Kutsche, K., Mart??nez, F. Eur. J. Hum. Genet. (2007) [Pubmed]
  5. Health status, behavior, and care utilization in the Geneva Gay Men's Health Survey. Wang, J., Häusermann, M., Vounatsou, P., Aggleton, P., Weiss, M.G. Preventive medicine (2007) [Pubmed]
  6. Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Okazawa, H., Rich, T., Chang, A., Lin, X., Waragai, M., Kajikawa, M., Enokido, Y., Komuro, A., Kato, S., Shibata, M., Hatanaka, H., Mouradian, M.M., Sudol, M., Kanazawa, I. Neuron (2002) [Pubmed]
  7. Toward cell specificity in SCA1. Humbert, S., Saudou, F. Neuron (2002) [Pubmed]
  8. 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. Lenski, C., Abidi, F., Meindl, A., Gibson, A., Platzer, M., Frank Kooy, R., Lubs, H.A., Stevenson, R.E., Ramser, J., Schwartz, C.E. Am. J. Hum. Genet. (2004) [Pubmed]
  9. Nucleocytoplasmic shuttling of the splicing factor SIPP1. Llorian, M., Beullens, M., Lesage, B., Nicolaescu, E., Beke, L., Landuyt, W., Ortiz, J.M., Bollen, M. J. Biol. Chem. (2005) [Pubmed]
  10. Genomic organization and alternative transcripts of the human PQBP-1 gene. Iwamoto, K., Huang, Y., Ueda, S. Gene (2000) [Pubmed]
  11. Expression of human PQBP-1 in Drosophila impairs long-term memory and induces abnormal courtship. Yoshimura, N., Horiuchi, D., Shibata, M., Saitoe, M., Qi, M.L., Okazawa, H. FEBS Lett. (2006) [Pubmed]
  12. Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation. Fichera, M., Falco, M., Lo Giudice, M., Castiglia, L., Guarnaccia, V., Calì, F., Spalletta, A., Scuderi, C., Avola, E. Clin. Genet. (2005) [Pubmed]
  13. Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. Lubs, H., Abidi, F.E., Echeverri, R., Holloway, L., Meindl, A., Stevenson, R.E., Schwartz, C.E. J. Med. Genet. (2006) [Pubmed]
  14. PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotype. Okuda, T., Hattori, H., Takeuchi, S., Shimizu, J., Ueda, H., Palvimo, J.J., Kanazawa, I., Kawano, H., Nakagawa, M., Okazawa, H. Hum. Mol. Genet. (2003) [Pubmed]
  15. Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription. Komuro, A., Saeki, M., Kato, S. Nucleic Acids Res. (1999) [Pubmed]
  16. PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming protein. Okazawa, H., Sudol, M., Rich, T. Brain Res. Bull. (2001) [Pubmed]
  17. 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. Komuro, A., Saeki, M., Kato, S. J. Biol. Chem. (1999) [Pubmed]
  18. Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement. Touati, G., Rusthoven, E., Depondt, E., Dorche, C., Duran, M., Heron, B., Rabier, D., Russo, M., Saudubray, J.M. J. Inherit. Metab. Dis. (2000) [Pubmed]
  19. Mutant huntingtin promotes the fibrillogenesis of wild-type huntingtin: a potential mechanism for loss of huntingtin function in Huntington's disease. Busch, A., Engemann, S., Lurz, R., Okazawa, H., Lehrach, H., Wanker, E.E. J. Biol. Chem. (2003) [Pubmed]
  20. Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization. Bonnet, C., Grégoire, M.J., Brochet, K., Raffo, E., Leheup, B., Jonveaux, P. J. Hum. Genet. (2006) [Pubmed]
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