Property Summary

NCBI Gene PubMed Count 43
PubMed Score 52.15
PubTator Score 64.10

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
Multiple myeloma 1.238 4.5e-03
psoriasis -1.500 2.7e-04
osteosarcoma -2.397 6.8e-08
adult high grade glioma -1.300 7.8e-03
non primary Sjogren syndrome sicca 1.400 2.3e-02
ovarian cancer 1.300 6.1e-04

 OMIM Phenotype (1)

Gene RIF (18)

PMID Text
26046437 Study found that PQBP1 directly binds to reverse-transcribed HIV-1 DNA and interacts with cGAS to initiate an IRF3-dependent innate response.
24781215 Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.
22901698 The results of this study addressed that the relationship between gene dose and phenotype relationship of dPQBP1 and investigated the mechanism responsible for the lifespan shortening'
21933836 These data demonstrate a role for PQBP1 in the modulation of stress granules.
21315190 Data show that the PQBP1 mutation was found in 3 brothers with a phenotype comprising MR, short stature, lean body and microcephaly.
21267006 Evidence for a functional involvement of the four mutations affecting ATRX (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (p.390P4L and p.477S4L), in the etiology of intellectual disability.
21204222 Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.
20886605 mutations in PQBP1 caused variable loss of cell adhesion from impaired vesicle trafficking disrupts the neuroepithelial lining or neuronal migration and underlies periventricular heterotopia formation
20410308 Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing
20307692 frameshift mutations in the PQBP-1 gene lead to expression of mutants lacking the ability to interact with U5-15kD
19847789 An evaluation of X-linked mental retardation (XLMR) pathology of PQBP1 mutations demonstrated nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
19119319 Results suggest that pqbp-1.1 is involved in lipid metabolism of intestinal cells, and that dysfunction of lipid metabolism might underlie lean body, one of the most frequent symptoms associating with PQBP1-linked mental retrdation patients.
18599155 Data suggest that the SIPP1-PQBP1-induced nuclear inclusions are distinct from the protein aggregates that are associated with polyglutamine diseases and represent dynamic nucleoplasmic heteropolymers of SIPP1 and PQBP1.
16493439 Pathogenic frameshift mutations in PQBP1 are rare in mentally retarded patients lacking specific associated signs; the 21 bp in-frame deletions may be non-pathogenic, or alternatively could act subtly on PQBP1 function.
16104847 dysfunction of PQBP-1 induces mitochondrial stress, a key molecular pathomechanism that is shared among human neurodegenerative disorders
15355434 Mutations in the polyglutamine-binding protein 1 gene is associated with X-linked mental retardation
15024694 mutations cause Renpenning syndrome and X-linked mental retardation with microcephaly
14634649 Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

AA Sequence

MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADT      1 - 70
DLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDR     71 - 140
DRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYS    141 - 210
DAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD                   211 - 265
//

Text Mined References (52)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26046437 2015 PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.
25416956 2014 A proteome-scale map of the human interactome network.
24781215 2014 Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23512658 2013 PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22901698 2013 A restricted level of PQBP1 is needed for the best longevity of Drosophila.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21933836 2011 The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.
21315190 A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
21269460 2011 Initial characterization of the human central proteome.
21267006 2011 Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
21204222 2011 Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.
20886605 2010 Mutation in PQBP1 is associated with periventricular heterotopia.
20410308 2010 Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
20307692 2010 Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19847789 2010 Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
19303059 2009 Polyglutamine tract binding protein-1 is an intrinsically unstructured protein.
19119319 2009 Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18599155 2008 Nature of the nuclear inclusions formed by PQBP1, a protein linked to neurodegenerative polyglutamine diseases.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16740914 2006 Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16493439 2006 Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
16104847 2005 Polyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stress.
15782410 2005 Renpenning syndrome comes into focus.
15635413 2005 Nucleolar proteome dynamics.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15355434 2004 Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15024694 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.
14634649 2003 Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12062018 2002 Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death.
11163963 2000 Genomic organization and alternative transcripts of the human PQBP-1 gene.
11054566 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.
10873650 2000 PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain.
10593949 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.
10332029 1999 PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival.
10198427 1999 Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription.
9875212 1998 Polar amino acid-rich sequences bind to polyglutamine tracts.
9599645 1998 A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11.
9545405 1998 Renpenning syndrome maps to Xp11.
7211958 1980 X-linked mental retardation: Renpenning revisited.
3177465 Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.
1605216 1992 Nomenclature guidelines for X-linked mental retardation.