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PQBP1

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PQBP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPQBP1, MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS, polyglutamine binding protein 1
External IDsOMIM: 300463; MGI: 1859638; HomoloGene: 4172; GeneCards: PQBP1; OMA:PQBP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

10084

54633

Ensembl

ENSG00000102103

ENSMUSG00000031157

UniProt

O60828

Q91VJ5

RefSeq (mRNA)

NM_001252528
NM_001252529
NM_019478

RefSeq (protein)

NP_001239457
NP_001239458
NP_062351

Location (UCSC)Chr X: 48.89 – 48.9 MbChr X: 7.76 – 7.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Polyglutamine-binding protein 1 is a protein that in humans is encoded by the PQBP1 gene.[5][6][7]

Polyglutamine binding protein-1 is a highly conserved nuclear protein expressed in mesodermal and nuclear tissues.[8] 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.[9] 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.[10] 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.[8] 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.[8]

Function

PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain (Waragai et al., 1999).[supplied by OMIM][11]

Interactions

PQBP1 has been shown to interact with:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102103 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031157 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b 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.
  8. ^ a b c 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.
  9. ^ 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.
  10. ^ 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.
  11. ^ "OMIM: PQBP1 polyglutamine binding protein 1".
  12. ^ 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.
  13. ^ a b 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.
  14. ^ 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

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