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{{Infobox_gene}}
{{PBB_Controls
'''Polyglutamine-binding protein 1''' is a [[protein]] that in humans is encoded by the ''PQBP1'' [[gene]].<ref name="pmid9875212">{{cite journal | vauthors = Imafuku I, Waragai M, Takeuchi S, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H | title = Polar amino acid-rich sequences bind to polyglutamine tracts | journal = Biochemical and Biophysical Research Communications | volume = 253 | issue = 1 | pages = 16–20 | date = December 1998 | pmid = 9875212 | pmc =  | doi = 10.1006/bbrc.1998.9725 }}</ref><ref name="pmid15024694">{{cite journal | vauthors = Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE | title = 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 | journal = American Journal of Human Genetics | volume = 74 | issue = 4 | pages = 777–80 | date = April 2004 | pmid = 15024694 | pmc = 1181956 | doi = 10.1086/383205 }}</ref><ref name=pmid10332029>{{cite journal | vauthors = Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H | title = PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival | journal = Human Molecular Genetics | volume = 8 | issue = 6 | pages = 977–87 | date = June 1999 | pmid = 10332029 | doi = 10.1093/hmg/8.6.977 }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
Polyglutamine binding protein-1 is a highly conserved nuclear protein expressed in mesodermal and nuclear tissues.<ref name=":0">{{cite journal | vauthors = Iwasaki Y, Thomsen GH | title = The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling | language = en | journal = Development | volume = 141 | issue = 19 | pages = 3740–51 | date = October 2014 | pmid = 25209246 | pmc = 4197583 | doi = 10.1242/dev.106658 | url = http://dev.biologists.org/content/141/19/3740}}</ref> The molecular roles of PQBP1 in embryonic development are still being understood, but it has been found to function in mRNA splicing, and transcription regulation.<ref>{{cite journal | vauthors = Mizuguchi M, Obita T, Serita T, Kojima R, Nabeshima Y, Okazawa H | title = Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD | language = en | journal = Nature Communications | volume = 5 | pages = 3822 | date = 2014-04-30 | pmid = 24781215 | doi = 10.1038/ncomms4822 | url = http://www.nature.com/ncomms/2014/140430/ncomms4822/full/ncomms4822.html  }}</ref> Mutations in the PQBP1 gene, which encodes for this protein, have been known to cause X-linked intellectual disabilities (XLID), commonly referred to as [[Renpenning's syndrome]]. People who suffer from these disabilities share a common set of symptoms including: microcephaly, shortened stature and impaired intellectual development.<ref>{{cite journal | vauthors = Wang Q, Moore MJ, Adelmant G, Marto JA, Silver PA | title = PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth | language = en | journal = Genes & Development | volume = 27 | issue = 6 | pages = 615–26 | date = March 2013 | pmid = 23512658 | pmc = 3613609 | doi = 10.1101/gad.212308.112 | url = http://genesdev.cshlp.org/content/27/6/615 }}</ref>  There are 11 types of mutations that have been identified, but the most common being frameshift mutations. A knockdown model of the gene in mouse embryo primary neurons revealed a decrease in splicing efficiency and resulted in abnormal gastrulation and neuralation patterning.<ref name=":0" /> Attempts at creating both PQBP1 mouse knockout or over expression models have been unsuccessful, often with lethal results. Research indicates that in order to appropriately function, the protein must be expressed within a critical range.<ref name=":0" />
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Polyglutamine binding protein 1
| HGNCid = 9330
| Symbol = PQBP1
| AltSymbols =; MRXS3; SHS; MRX55; MRXS8; NPW38; RENS1
| OMIM = 300463
| ECnumber =
| Homologene = 4172
| MGIid = 1859638
| GeneAtlas_image1 = PBB_GE_PQBP1_207769_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_PQBP1_214527_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_PQBP1_210499_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003713 |text = transcription coactivator activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10084
    | Hs_Ensembl = ENSG00000102103
    | Hs_RefseqProtein = NP_001027553
    | Hs_RefseqmRNA = NM_001032381
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 48639531
    | Hs_GenLoc_end = 48645363
    | Hs_Uniprot = O60828
    | Mm_EntrezGene = 54633
    | Mm_Ensembl =
    | Mm_RefseqmRNA = NM_019478
    | Mm_RefseqProtein = NP_062351
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Polyglutamine binding protein 1''', also known as '''PQBP1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PQBP1 polyglutamine binding protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10084| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary
| section_title =  
| summary_text = PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain (Waragai et al., 1999).[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: PQBP1 polyglutamine binding protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10084| accessdate = }}</ref>
}}


==References==
PQBP1 is a nuclear [[polyglutamine tract|polyglutamine]]-binding protein that contains a WW domain (Waragai et al., 1999).[supplied by OMIM]<ref name="entrez">{{cite web | title = OMIM: PQBP1 polyglutamine binding protein 1| url =https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463| accessdate = }}</ref>
{{reflist|2}}
 
==Further reading==
== Interactions ==
 
PQBP1 has been shown to [[Protein-protein interaction|interact]] with:
* [[POLR2A]],<ref name = pmid12062018>{{cite journal | vauthors = 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 | title = Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death | journal = Neuron | volume = 34 | issue = 5 | pages = 701–13 | date = May 2002 | pmid = 12062018 | doi = 10.1016/s0896-6273(02)00697-9 }}</ref>
* [[POU3F2]],<ref name = "pmid10332029"/>
* [[TXNL4A]],<ref name = pmid11054566/> and
* [[WBP11]].<ref name = pmid11054566>{{cite journal | vauthors = Zhang Y, Lindblom T, Chang A, Sudol M, Sluder AE, Golemis EA | title = 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 | journal = Gene | volume = 257 | issue = 1 | pages = 33–43 | date = October 2000 | pmid = 11054566 | doi = 10.1016/s0378-1119(00)00372-3 }}</ref><ref name = pmid10593949>{{cite journal | vauthors = Komuro A, Saeki M, Kato S | title = 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 | journal = The Journal of Biological Chemistry | volume = 274 | issue = 51 | pages = 36513–9 | date = December 1999 | pmid = 10593949 | doi = 10.1074/jbc.274.51.36513 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Fox P, Fox D, Gerrard JW | title = X-linked mental retardation: Renpenning revisited | journal = American Journal of Medical Genetics | volume = 7 | issue = 4 | pages = 491–5 | year = 1981 | pmid = 7211958 | doi = 10.1002/ajmg.1320070409 }}
| citations =
* {{cite journal | vauthors = Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE | title = Renpenning syndrome maps to Xp11 | journal = American Journal of Human Genetics | volume = 62 | issue = 5 | pages = 1092–101 | date = May 1998 | pmid = 9545405 | pmc = 1377092 | doi = 10.1086/301835 }}
*{{cite journal | author=Fox P, Fox D, Gerrard JW |title=X-linked mental retardation: Renpenning revisited. |journal=Am. J. Med. Genet. |volume=7 |issue= 4 |pages= 491-5 |year= 1981 |pmid= 7211958 |doi= 10.1002/ajmg.1320070409 }}
* {{cite journal | vauthors = Deqaqi SC, N'Guessan M, Forner J, Sbiti A, Beldjord C, Chelly J, Sefiani A, Des Portes V | title = A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11 | journal = Annales De Génétique | volume = 41 | issue = 1 | pages = 11–6 | year = 1998 | pmid = 9599645 | doi =  }}
*{{cite journal | author=Stevenson RE, Arena JF, Ouzts E, ''et al.'' |title=Renpenning syndrome maps to Xp11. |journal=Am. J. Hum. Genet. |volume=62 |issue= 5 |pages= 1092-101 |year= 1998 |pmid= 9545405 |doi= }}
* {{cite journal | vauthors = Komuro A, Saeki M, Kato S | title = Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription | journal = Nucleic Acids Research | volume = 27 | issue = 9 | pages = 1957–65 | date = May 1999 | pmid = 10198427 | pmc = 148407 | doi = 10.1093/nar/27.9.1957 }}
*{{cite journal | author=Deqaqi SC, N'Guessan M, Forner J, ''et al.'' |title=A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11. |journal=Ann. Genet. |volume=41 |issue= 1 |pages= 11-6 |year= 1998 |pmid= 9599645 |doi=  }}
* {{cite journal | vauthors = Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H | title = PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival | journal = Human Molecular Genetics | volume = 8 | issue = 6 | pages = 977–87 | date = June 1999 | pmid = 10332029 | doi = 10.1093/hmg/8.6.977 }}
*{{cite journal | author=Imafuku I, Waragai M, Takeuchi S, ''et al.'' |title=Polar amino acid-rich sequences bind to polyglutamine tracts. |journal=Biochem. Biophys. Res. Commun. |volume=253 |issue= 1 |pages= 16-20 |year= 1999 |pmid= 9875212 |doi= 10.1006/bbrc.1998.9725 }}
* {{cite journal | vauthors = Komuro A, Saeki M, Kato S | title = 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 | journal = The Journal of Biological Chemistry | volume = 274 | issue = 51 | pages = 36513–9 | date = December 1999 | pmid = 10593949 | doi = 10.1074/jbc.274.51.36513 }}
*{{cite journal  | author=Komuro A, Saeki M, Kato S |title=Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription. |journal=Nucleic Acids Res. |volume=27 |issue= 9 |pages= 1957-65 |year= 1999 |pmid= 10198427 |doi= }}
* {{cite journal | vauthors = Waragai M, Junn E, Kajikawa M, Takeuchi S, Kanazawa I, Shibata M, Mouradian MM, Okazawa H | title = PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain | journal = Biochemical and Biophysical Research Communications | volume = 273 | issue = 2 | pages = 592–5 | date = July 2000 | pmid = 10873650 | doi = 10.1006/bbrc.2000.2992 }}
*{{cite journal | author=Waragai M, Lammers CH, Takeuchi S, ''et al.'' |title=PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. |journal=Hum. Mol. Genet. |volume=8 |issue= 6 |pages= 977-87 |year= 1999 |pmid= 10332029 |doi= }}
* {{cite journal | vauthors = Zhang Y, Lindblom T, Chang A, Sudol M, Sluder AE, Golemis EA | title = 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 | journal = Gene | volume = 257 | issue = 1 | pages = 33–43 | date = October 2000 | pmid = 11054566 | doi = 10.1016/S0378-1119(00)00372-3 }}
*{{cite journal | author=Komuro A, Saeki M, Kato S |title=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. |journal=J. Biol. Chem. |volume=274 |issue= 51 |pages= 36513-9 |year= 2000 |pmid= 10593949 |doi= }}
* {{cite journal | vauthors = Iwamoto K, Huang Y, Ueda S | title = Genomic organization and alternative transcripts of the human PQBP-1 gene | journal = Gene | volume = 259 | issue = 1-2 | pages = 69–73 | date = December 2000 | pmid = 11163963 | doi = 10.1016/S0378-1119(00)00437-6 }}
*{{cite journal | author=Waragai M, Junn E, Kajikawa M, ''et al.'' |title=PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain. |journal=Biochem. Biophys. Res. Commun. |volume=273 |issue= 2 |pages= 592-5 |year= 2000 |pmid= 10873650 |doi= 10.1006/bbrc.2000.2992 }}
* {{cite journal | vauthors = 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 | title = Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death | journal = Neuron | volume = 34 | issue = 5 | pages = 701–13 | date = May 2002 | pmid = 12062018 | doi = 10.1016/S0896-6273(02)00697-9 }}
*{{cite journal | author=Zhang Y, Lindblom T, Chang A, ''et al.'' |title=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. |journal=Gene |volume=257 |issue= 1 |pages= 33-43 |year= 2001 |pmid= 11054566 |doi= }}
* {{cite journal | vauthors = 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 | title = Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation | journal = Nature Genetics | volume = 35 | issue = 4 | pages = 313–5 | date = December 2003 | pmid = 14634649 | doi = 10.1038/ng1264 }}
*{{cite journal | author=Iwamoto K, Huang Y, Ueda S |title=Genomic organization and alternative transcripts of the human PQBP-1 gene. |journal=Gene |volume=259 |issue= 1-2 |pages= 69-73 |year= 2001 |pmid= 11163963 |doi= }}
* {{cite journal | vauthors = 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 | title = Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation | journal = Nature Biotechnology | volume = 22 | issue = 6 | pages = 707–16 | date = June 2004 | pmid = 15146197 | doi = 10.1038/nbt971 }}
*{{cite journal | author=Okazawa H, Rich T, Chang A, ''et al.'' |title=Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. |journal=Neuron |volume=34 |issue= 5 |pages= 701-13 |year= 2002 |pmid= 12062018 |doi= }}
* {{cite journal | vauthors = Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC | title = Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1) | journal = Clinical Genetics | volume = 66 | issue = 4 | pages = 318–26 | date = October 2004 | pmid = 15355434 | doi = 10.1111/j.1399-0004.2004.00308.x }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M | title = Nucleolar proteome dynamics | journal = Nature | volume = 433 | issue = 7021 | pages = 77–83 | date = January 2005 | pmid = 15635413 | doi = 10.1038/nature03207 }}
*{{cite journal | author=Kalscheuer VM, Freude K, Musante L, ''et al.'' |title=Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. |journal=Nat. Genet. |volume=35 |issue= 4 |pages= 313-5 |year= 2004 |pmid= 14634649 |doi= 10.1038/ng1264 }}
* {{cite journal | vauthors = Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE | title = Renpenning syndrome comes into focus | journal = American Journal of Medical Genetics Part A | volume = 134 | issue = 4 | pages = 415–21 | date = May 2005 | pmid = 15782410 | doi = 10.1002/ajmg.a.30664 }}
*{{cite journal | author=Lenski C, Abidi F, Meindl A, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=74 |issue= 4 |pages= 777-80 |year= 2004 |pmid= 15024694 |doi=  }}
* {{cite journal | vauthors = Marubuchi S, Wada Y, Okuda T, Hara Y, Qi ML, Hoshino M, Nakagawa M, Kanazawa I, Okazawa H | title = Polyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stress | journal = Journal of Neurochemistry | volume = 95 | issue = 3 | pages = 858–70 | date = November 2005 | pmid = 16104847 | doi = 10.1111/j.1471-4159.2005.03405.x }}
*{{cite journal  | author=Brandenberger R, Wei H, Zhang S, ''et al.'' |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707-16 |year= 2005 |pmid= 15146197 |doi= 10.1038/nbt971 }}
*{{cite journal | author=Kleefstra T, Franken CE, Arens YH, ''et al.'' |title=Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). |journal=Clin. Genet. |volume=66 |issue= 4 |pages= 318-26 |year= 2005 |pmid= 15355434 |doi= 10.1111/j.1399-0004.2004.00308.x }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Andersen JS, Lam YW, Leung AK, ''et al.'' |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77-83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207 }}
*{{cite journal | author=Stevenson RE, Bennett CW, Abidi F, ''et al.'' |title=Renpenning syndrome comes into focus. |journal=Am. J. Med. Genet. A |volume=134 |issue= 4 |pages= 415-21 |year= 2005 |pmid= 15782410 |doi= 10.1002/ajmg.a.30664 }}
*{{cite journal | author=Marubuchi S, Wada Y, Okuda T, ''et al.'' |title=Polyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stress. |journal=J. Neurochem. |volume=95 |issue= 3 |pages= 858-70 |year= 2005 |pmid= 16104847 |doi= 10.1111/j.1471-4159.2005.03405.x }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
* {{UCSC genome browser|PQBP1}}
* {{UCSC gene details|PQBP1}}

Revision as of 18:37, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Polyglutamine-binding protein 1 is a protein that in humans is encoded by the PQBP1 gene.[1][2][3]

Polyglutamine binding protein-1 is a highly conserved nuclear protein expressed in mesodermal and nuclear tissues.[4] The molecular roles of PQBP1 in embryonic development are still being understood, but it has been found to function in mRNA splicing, and transcription regulation.[5] Mutations in the PQBP1 gene, which encodes for this protein, have been known to cause X-linked intellectual disabilities (XLID), commonly referred to as Renpenning's syndrome. People who suffer from these disabilities share a common set of symptoms including: microcephaly, shortened stature and impaired intellectual development.[6] There are 11 types of mutations that have been identified, but the most common being frameshift mutations. A knockdown model of the gene in mouse embryo primary neurons revealed a decrease in splicing efficiency and resulted in abnormal gastrulation and neuralation patterning.[4] Attempts at creating both PQBP1 mouse knockout or over expression models have been unsuccessful, often with lethal results. Research indicates that in order to appropriately function, the protein must be expressed within a critical range.[4]

Function

PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain (Waragai et al., 1999).[supplied by OMIM][7]

Interactions

PQBP1 has been shown to interact with:

References

  1. ↑ Imafuku I, Waragai M, Takeuchi S, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (December 1998). "Polar amino acid-rich sequences bind to polyglutamine tracts". Biochemical and Biophysical Research Communications. 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 (April 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". American Journal of Human Genetics. 74 (4): 777–80. doi:10.1086/383205. PMC 1181956. PMID 15024694.
  3. ↑ 3.0 3.1 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". Human Molecular Genetics. 8 (6): 977–87. doi:10.1093/hmg/8.6.977. PMID 10332029.
  4. ↑ 4.0 4.1 4.2 Iwasaki Y, Thomsen GH (October 2014). "The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling". Development. 141 (19): 3740–51. doi:10.1242/dev.106658. PMC 4197583. PMID 25209246.
  5. ↑ Mizuguchi M, Obita T, Serita T, Kojima R, Nabeshima Y, Okazawa H (2014-04-30). "Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD". Nature Communications. 5: 3822. doi:10.1038/ncomms4822. PMID 24781215.
  6. ↑ Wang Q, Moore MJ, Adelmant G, Marto JA, Silver PA (March 2013). "PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth". Genes & Development. 27 (6): 615–26. doi:10.1101/gad.212308.112. PMC 3613609. PMID 23512658.
  7. ↑ "OMIM: PQBP1 polyglutamine binding protein 1".
  8. ↑ 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.
  9. ↑ 9.0 9.1 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.
  10. ↑ 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". The Journal of Biological Chemistry. 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". American Journal of Medical Genetics. 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 (May 1998). "Renpenning syndrome maps to Xp11". American Journal of Human Genetics. 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". Annales De Génétique. 41 (1): 11–6. PMID 9599645.
  • Komuro A, Saeki M, Kato S (May 1999). "Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription". Nucleic Acids Research. 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 (June 1999). "PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival". Human Molecular Genetics. 8 (6): 977–87. doi:10.1093/hmg/8.6.977. PMID 10332029.
  • 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". The Journal of Biological Chemistry. 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 (July 2000). "PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain". Biochemical and Biophysical Research Communications. 273 (2): 592–5. doi:10.1006/bbrc.2000.2992. PMID 10873650.
  • 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.
  • Iwamoto K, Huang Y, Ueda S (December 2000). "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 (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.
  • 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 (December 2003). "Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation". Nature Genetics. 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 (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 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 (October 2004). "Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)". Clinical Genetics. 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 (January 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 (May 2005). "Renpenning syndrome comes into focus". American Journal of Medical Genetics Part 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 (November 2005). "Polyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stress". Journal of Neurochemistry. 95 (3): 858–70. doi:10.1111/j.1471-4159.2005.03405.x. PMID 16104847.

External links

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