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FLASH GENE
Symbol PQBP1 contributors: mct/npt/pgu - updated : 07-01-2015
HGNC name polyglutamine binding protein 1
HGNC id 9330
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two conserved TRP (w) residues WW domain, interacting with the large subunit of RNA polymerase 2, with a critical role of the WW domain in the function of the PQBP1 protein (Tapia 2010), WW domain, which mediates specific interactions with proline-rich protein regions
  • homopolymeric glutamine repeat
  • polar amino acid rich domain
  • nuclear localization signal (NLS)
  • includes high content of unstructured regions in the C-terminal domain, in spite of the binding of U5-15kD
  • HOMOLOGY
    interspecies homolog to murine Pqbp1
    Homologene
    FAMILY
    CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,nucleolus
    text
  • localizes in nuclear speckles and is engaged in transcription and splicing
  • in primary neurons, PQBP1 co-localizes with its interaction partners in specific cytoplasmic granules
  • upon stress, PQBP1 moves into Stress granules, together with FMR1 and with its novel-binding partners Caprin-1, DDX1 and KHSRP
  • nuclear-cytoplasmic shuttling protein
  • basic FUNCTION
  • may be involved in neuronal proliferation and/or maturation
  • plays an important role in X-linked mental retardation
  • nuclear protein that regulates pre-mRNA splicing and transcription
  • possible role for PQBP1 in cytoplasmic RNA metabolism
  • may be a multifunctional protein with a role in regulating cytoplasmic signalling events involved in mRNA metabolism and thereby provide new insights into the pathogenesis of intellectual disability
  • can affect the alternative messenger RNA (mRNA) splicing (AS) of multiple mRNAs and specific affected targets whose splice site determination may contribute to the disease phenotype in PQBP1-linked neurological disorders
  • nuclear-cytoplasmic shuttling protein that is engaged in RNA metabolism and transcription
  • PQBP1 and DNM2 are components of a signaling pathway that orchestrates neuronal ciliary morphogenesis in the brain
  • essential roles for PQBP1 and a binding partner, WBP11, in early development
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text transcription activator
    PATHWAY
    metabolism
    signaling
    a component WBP11-PQBP1-induced nuclear inclusions are distinct from the protein aggregates that are associated with polyglutamine diseases and represent dynamic nucleoplasmic heteropolymers of WBP11 and PQBP1
    INTERACTION
    DNA
    RNA binds RNA-binding proteins with an established role in cytoplasmic RNA localization and translation regulation
    small molecule
    protein
  • interacting with POU3F2
  • pre-mRNA splicing factor WBP11, is a protein ligand of PQBP1
  • interacts with disease proteins containing expanded polyglutamine repeats and also with RNA polymerase II and a spliceosomal protein U5-15kD
  • PQBP1 binds to TXNL4A via a continuous 23-AAs segment within its C-terminal domain
  • WBP11 splicing factor, is one of the functional partners of PQBP1 from a potentially large repertoire of other signaling ligands
  • binds two key proteins of the motor protein-related dynactin complex
  • interact with triplet repeat disease gene products such as ataxin and huntingtin through their poly-glutamine (poly-Q) tracts
  • SOX2 regulated the transcription of PQBP1 in neural stem progenitor cells (NSPCs)
  • PQBP1 interacts with DNM2 and thereby inhibits its GTPase activity
  • TXNL4A hydrophobic groove recognizes a YxxPxxVL motif in PQBP1
  • PQBP1 directly binds to reverse-transcribed HIV-1 DNA and interacts with CGAS to initiate an IRF3-dependent innate respons
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SHS , MRX55 , RENS1 , GIHS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    results in the formation of nuclear inclusions, reminiscent of the protein aggregates that are detected in polyglutamine diseases
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS