Recombinant Human Polyglutamine-binding protein 1 (PQBP1)

1. Results from a study on gene expression variability markers in early-stage human embryos shows that PQBP1 is a putative expression variability marker for the 3-day, 8-cell embryo stage. PMID: 26288249
2. The WW domain belonging to polyglutamine tract-binding protein 1 (PQBP1) is of particular interest due to its direct involvement in several X chromosome-linked intellectual disabilities, including Golabi-Ito-Hall (GIH) syndrome, where a single point mutation (Y65C) correlates with the development of the disease. The mutant cannot bind to its natural ligand WBP11, which regulates mRNA processing PMID: 27456546
3. Our data strongly support a gain-of-function pathogenic mechanism of PQBP1 c.459_462delAGAG and c.463_464dupAG mutations, and suggest that therapeutic strategies to restore FMRP function may be beneficial for those patients PMID: 28073926
4. results suggest that the interaction between PQBP1 and WBP11 negatively modulates the U5-15kD binding of PQBP1 by an allosteric mechanism PMID: 27314904
5. Study found that PQBP1 directly binds to reverse-transcribed HIV-1 DNA and interacts with cGAS to initiate an IRF3-dependent innate response. PMID: 26046437
6. Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD. PMID: 24781215
7. 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' PMID: 22901698
8. These data demonstrate a role for PQBP1 in the modulation of stress granules. PMID: 21933836
9. Data show that the PQBP1 mutation was found in 3 brothers with a phenotype comprising MR, short stature, lean body and microcephaly. PMID: 21315190
10. 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. PMID: 21267006
11. Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. PMID: 21204222
12. 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 PMID: 20886605
13. frameshift mutations in the PQBP-1 gene lead to expression of mutants lacking the ability to interact with U5-15kD PMID: 20307692
14. Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing PMID: 20410308
15. An evaluation of X-linked mental retardation (XLMR) pathology of PQBP1 mutations demonstrated nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. PMID: 19847789
16. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation PMID: 14634649
17. mutations cause Renpenning syndrome and X-linked mental retardation with microcephaly PMID: 15024694
18. Mutations in the polyglutamine-binding protein 1 gene is associated with X-linked mental retardation PMID: 15355434
19. dysfunction of PQBP-1 induces mitochondrial stress, a key molecular pathomechanism that is shared among human neurodegenerative disorders PMID: 16104847
20. 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. PMID: 16493439
21. 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. PMID: 18599155
22. 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. PMID: 19119319

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HGNC: 9330

OMIM: 300463

KEGG: hsa:10084

STRING: 9606.ENSP00000218224

UniGene: Hs.534384