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The meaning of «pqbp1»


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

Polyglutamine binding protein-1, which was identified as a binding protein to the polyglutamine tract sequence,[5][7] is an evolutionally conserved protein[8] expressed in various tissues including developmental[9] and adult brains[7] or mesodermal tissues.[10] In cells, PQBP1 is dominantly located in the nucleus[7][11] but also in the cytoplasm dependently on the cell type[12] and stress conditions.[13]

PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain.[14][15]

The molecular roles of PQBP1 are mainly in mRNA splicing[16][17] and transcription.[11][18] PQBP1 interacts with splicing proteins[19][20][21][22] and RNA-binding proteins.[23][24] PQBP1 deficiency critically affects mRNA splicing of cell cycle and synapse related genes.[16] In addition, recent results indicated implication of PQBP1 in cytoplasmic RNA metabolism[25] and elongation of protein translation from mRNA.[26]

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.[27] People who suffer from these disabilities share a common set of symptoms including: microcephaly, shortened stature and impaired intellectual development.[28] There are 11 types of mutations that have been identified, but the most common being frameshift mutations.[27][29] Other syndromic XLIDs such as Golabi-Ito-Hall syndrome and non-syndromic ID patients were also associated with PQBP1 gene mutations.[30][31][32]

Mutant Ataxin-1 and Huntingtin, disease proteins of spinocerebellar ataxia type-1 and Huntington's disease respectively, interact with PQBP1 and disturbed the functions of PQBP1.[11][33] Moreover, recent investigations revealed pathological roles of PQBP1 in neurons[34] and microglia[35] under neurodegeneration of Alzheimer's disease and tauopathy. SRRM2 phosphorylation detected in neurons at the early stage of Alzheimer's disease pathology[36] leads to reduction of SRRM2, a scaffold protein for RNA metabolism related molecules in the nucleus, which causes reduction of PQBP1 in the nucleus and acquired intellectual disability.[34] PQBP1 was shown as an intracellular receptor for HIV1 in dendritic cells[37] for innate immune system. Similarly, PQBP1 functions as an intracellular receptor for tau proteins and trigger brain inflammation.[35]

Mouse models of knockdown and conditional knockout were generated, and they showed cognitive impairment and microcephaly.[38][16] The KD mice possess a transgene expressing 498 bp double-strand RNA that is endogenously cleaved to siRNA suppressing PQBP1 efficiently, and did not show obvious developmental abnormality.[38] Another knockdown model of the gene in mouse embryo primary neurons revealed a decrease in splicing efficiency and resulted in abnormal gastrulation and neuralation patterning.[10]

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