Reviewed June 2012
What is the official name of the PQBP1 gene?
The official name of this gene is “polyglutamine binding protein 1.”
PQBP1 is the gene's official symbol. The PQBP1 gene is also known by other names, listed below.
What is the normal function of the PQBP1 gene?
The PQBP1 gene provides instructions for making a protein called polyglutamine-binding protein 1. This protein attaches (binds) to stretches of multiple copies of a protein building block (amino acid) called glutamine in certain other proteins.
While the specific function of polyglutamine-binding protein 1 is not well understood, it is believed to play a role in processing and transporting RNA, a chemical cousin of DNA that serves as the genetic blueprint for the production of proteins.
In nerve cells (neurons) such as those in the brain, polyglutamine-binding protein 1 is found in structures called RNA granules. These granules allow the transport and storage of RNA within the cell. The RNA is held within the granules until the genetic information it carries is translated to produce proteins or until cellular signals or environmental factors trigger the RNA to be degraded. Through these mechanisms, polyglutamine-binding protein 1 is thought to help control the way genetic information is used (gene expression) in neurons. This control is important for normal brain development.
How are changes in the PQBP1 gene related to health conditions?
- Renpenning syndrome - caused by mutations in the PQBP1 gene
At least 14 PQBP1 gene mutations have been identified in people with Renpenning syndrome, a disorder that occurs almost exclusively in males and causes intellectual disability and characteristic physical features. Most of the PQBP1 gene mutations that cause Renpenning syndrome result in an abnormally short polyglutamine-binding protein 1. The function of a shortened or otherwise abnormal protein is likely impaired and interferes with normal gene expression in neurons, resulting in abnormal development of the brain and the signs and symptoms of Renpenning syndrome.
Where is the PQBP1 gene located?
Cytogenetic Location: Xp11.23
Molecular Location on the X chromosome: base pairs 48,897,911 to 48,903,144
The PQBP1 gene is located on the short (p) arm of the X chromosome at position 11.23.
More precisely, the PQBP1 gene is located from base pair 48,897,911 to base pair 48,903,144 on the X chromosome.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about PQBP1?
You and your healthcare professional may find the following resources about PQBP1 helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for PQBP1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10084%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28PQBP1%5BTIAB%5D%29%20OR%20%28polyglutamine%20binding%20protein%201%5BTIAB%5D%29%29%20OR%20%28%28MRX55%5BTIAB%5D%29%20OR%20%28MRXS3%5BTIAB%5D%29%20OR%20%28MRXS8%5BTIAB%5D%29%20OR%20%28NPW38%5BTIAB%5D%29%20OR%20%28polyglutamine%20tract-binding%20protein%201%5BTIAB%5D%29%20OR%20%28polyglutamine-binding%20protein%201%5BTIAB%5D%29%20OR%20%28PQBP-1%5BTIAB%5D%29%20OR%20%28RENS1%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/300463)
Research Resources - Tools for researchers
- HGNC Gene Family: X-linked mental retardation (http://www.genenames.org/cgi-bin/genefamilies/set/103)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=9330)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10084)
What other names do people use for the PQBP1 gene or gene products?
- 38 kDa nuclear protein containing a WW domain
- nuclear protein containing WW domain 38 kD
- polyglutamine-binding protein 1
- polyglutamine tract-binding protein 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding PQBP1?
amino acid ;
gene expression ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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 BK, Woods G, Kalscheuer V, Mandel JL. Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. Eur J Hum Genet. 2006 Apr;14(4):418-25. (http://www.ncbi.nlm.nih.gov/pubmed/16493439?dopt=Abstract)
- Flynn M, Zou YS, Milunsky A. Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A. 2011 Jan;155A(1):141-4. doi: 10.1002/ajmg.a.33756. Epub 2010 Dec 9. (http://www.ncbi.nlm.nih.gov/pubmed/21204222?dopt=Abstract)
- Germanaud D, Rossi M, Bussy G, Gérard D, Hertz-Pannier L, Blanchet P, Dollfus H, Giuliano F, Bennouna-Greene V, Sarda P, Sigaudy S, Curie A, Vincent MC, Touraine R, des Portes V. The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. Clin Genet. 2011 Mar;79(3):225-35. doi: 10.1111/j.1399-0004.2010.01551.x. Epub 2010 Oct 18. (http://www.ncbi.nlm.nih.gov/pubmed/20950397?dopt=Abstract)
- Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clin Genet. 2004 Oct;66(4):318-26. (http://www.ncbi.nlm.nih.gov/pubmed/15355434?dopt=Abstract)
- Kunde SA, Musante L, Grimme A, Fischer U, Müller E, Wanker EE, Kalscheuer VM. The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet. 2011 Dec 15;20(24):4916-31. doi: 10.1093/hmg/ddr430. Epub 2011 Sep 20. (http://www.ncbi.nlm.nih.gov/pubmed/21933836?dopt=Abstract)
- Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. 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. 2004 Apr;74(4):777-80. (http://www.ncbi.nlm.nih.gov/pubmed/15024694?dopt=Abstract)
- Lubs H, Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE. Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. J Med Genet. 2006 Jun;43(6):e30. (http://www.ncbi.nlm.nih.gov/pubmed/16740914?dopt=Abstract)
- Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. Eur J Hum Genet. 2007 Jan;15(1):29-34. Epub 2006 Oct 11. (http://www.ncbi.nlm.nih.gov/pubmed/17033686?dopt=Abstract)
- Musante L, Kunde SA, Sulistio TO, Fischer U, Grimme A, Frints SG, Schwartz CE, Martínez F, Romano C, Ropers HH, Kalscheuer VM. Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Hum Mutat. 2010 Jan;31(1):90-8. doi: 10.1002/humu.21146. (http://www.ncbi.nlm.nih.gov/pubmed/19847789?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10084)
- Okazawa H, Sudol M, Rich T. PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming protein. Brain Res Bull. 2001 Oct-Nov 1;56(3-4):273-80. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11719261?dopt=Abstract)
- OMIM: POLYGLUTAMINE-BINDING PROTEIN 1 (http://omim.org/entry/300463)
- Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Renpenning syndrome comes into focus. Am J Med Genet A. 2005 May 1;134(4):415-21. (http://www.ncbi.nlm.nih.gov/pubmed/15782410?dopt=Abstract)
- Takahashi M, Mizuguchi M, Shinoda H, Aizawa T, Demura M, Okazawa H, Kawano K. Polyglutamine tract binding protein-1 is an intrinsically unstructured protein. Biochim Biophys Acta. 2009 Jun;1794(6):936-43. doi: 10.1016/j.bbapap.2009.03.001. Epub 2009 Mar 17. (http://www.ncbi.nlm.nih.gov/pubmed/19303059?dopt=Abstract)
- Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson AC, Mazack V, Humbert J, Gaffney CJ, Beullens M, Schwartz CE, Landgraf C, Volkmer R, Pastore A, Farooq A, Bollen M, Sudol M. Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. J Biol Chem. 2010 Jun 18;285(25):19391-401. doi: 10.1074/jbc.M109.084525. Epub 2010 Apr 21. (http://www.ncbi.nlm.nih.gov/pubmed/20410308?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.