Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol PQBP1 contributors: mct/npt/pgu - updated : 07-01-2015
HGNC name polyglutamine binding protein 1
HGNC id 9330
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
Physical map
SLC38A5 Xp11.23 solute carrier family 38, member 5 FTSJ1 Xp11.23 FtsJ homolog 1 (E. coli) PPN Xp11.23 likely ortholog of mouse porcupine homolog (Drosophila) EBP Xp11.23-p11.22 emopamil binding protein (sterol isomerase) OATL1 Xp11.23-p11.22 ornithine aminotransferase-like 1 RBM3 Xp11.23 RNA binding motif protein 3 MRPL32P1 Xq11.23 RNA binding motif protein 3 WDR13 Xp11.23 WD repeat domain 13 WAS Xp11.23-p11.22 Wiskott-Aldrich syndrome (eczema-thrombocytopenia) SUV39H1 Xp11.23 suppressor of variegation 3-9 homolog 1 (Drosophila) LOC392465 X similar to RIKEN cDNA 2010001H14 LOC389854 X similar to Acetyl-coenzyme A acyltransferase 2 GATA1 Xp11.23 GATA binding protein 1 (globin transcription factor 1) HDAC6 Xp11.23 histone deacetylase 6 ERAS Xpter-q26 ES cell expressed Ras PCSK1N Xp11.23 proprotein convertase subtilisin/kexin type 1 inhibitor TIMM17B Xp11.23 translocase of inner mitochondrial membrane 17 homolog B (yeast) PQBP1 Xp11.3 polyglutamine binding protein 1 SLC35A2 Xp11.23-p11.22 solute carrier family 35 (UDP-galactose transporter), member A2 PIM2 Xp11.3-p11.2 pim-2 oncogene DKFZp761A052 Xp11.23 hypothetical protein DKFZp761A052 KCND1 Xp11.23 potassium voltage-gated channel, Shal-related subfamily, member 1 GRIPAP1 Xp11 GRIP1 associated protein 1 TFE3 Xp11.23-p11.22 transcription factor binding to IGHM enhancer 3 JM11 Xp11.23 JM11 protein JM4 Xp11.23 JM11 protein JM5 Xp11.23 JM5 protein T54 Xp11.23 T54 protein FLJ21687 Xp11.23 PDZ domain containing, X chromosome PLP2 Xp11.23 proteolipid protein 2 (colonic epithelium-enriched) LMO6 Xp11.23-p11.22 LIM domain only 6 SYP Xp11.23-p11.22 synaptophysin CACNA1F Xp11.23 calcium channel, voltage-dependent, alpha 1F subunit LOC347348 Xp11.23 similar to Heat shock 27 kDa protein (HSP 27) (Stress-responsive protein 27) (SRP27) (Estrogen-regulated 24 kDa protein) (28 kDa heat shock protein) JM1 Xp11.23 JM1 protein FOXP3 Xp11.23 forkhead box P3 PPP1R3F Xp11.23 protein phosphatase 1, regulatory (inhibitor) subunit 3F LOC286408 Xp11.23 hypothetical LOC286408 LOC389855 X similar to G antigen 7
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
Type ubiquitous
   expressed in (based on citations)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   predominantly Homo sapiens
Reproductivemale systemprostate   
Respiratorylung   highly
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
physiological period fetal, neonatal
Text highly in fetal central nervous system and decrease after birth
  • 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
    interspecies homolog to murine Pqbp1
    CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
  • 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
    text transcription activator
    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
    RNA binds RNA-binding proteins with an established role in cytoplasmic RNA localization and translation regulation
    small molecule
  • 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
    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
    Variant & Polymorphism
    Candidate gene
    Therapy target