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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
Corresponding disease
GIHS Golabi-Ito-Hall syndrome
RENS1 mental retardation X-linked, Renpenning syndrome 1
Location Xp11.23      Physical location : 48.755.194 - 48.760.421
Synonym name
  • nuclear protein containing WW domain 38kDa
  • polyglutamine tract-binding protein 1
  • Synonym symbol(s) NPW38
    DNA
    TYPE functioning gene
    STRUCTURE 5.23 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   ALU
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 splicing 1147 - 265 - 2000 11163963
    7 - 1014 30.5 265 fetal brain and adult 2000 11163963
    7 splicing 1093 - 265 fetal brain and adult 2000 11163963
    7 splicing 1082 30.5 265 - 2000 11163963
    7 splicing 1002 30 265 - 2000 11163963
    - - 994 - 264 - 2000 11163963
    - - 972 - 257 - 2000 11163963
    - - 611 - 165 - 2000 11163963
    - - 797 - 170 - 2000 11163963
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain   predominantly Homo sapiens
    Reproductivemale systemprostate   
    Respiratorylung   highly
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, neonatal
    Text highly in fetal central nervous system and decrease after birth
    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