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Pqbp1 polyglutamine binding protein 1 [ Mus musculus (house mouse) ]

Gene ID: 54633, updated on 27-Nov-2024

Summary

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Official Symbol
Pqbp1provided by MGI
Official Full Name
polyglutamine binding protein 1provided by MGI
Primary source
MGI:MGI:1859638
See related
Ensembl:ENSMUSG00000031157 AllianceGenome:MGI:1859638
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Sfc2; npw38; PQBP-1
Summary
Predicted to enable GTPase binding activity; double-stranded DNA binding activity; and ribonucleoprotein complex binding activity. Involved in alternative mRNA splicing, via spliceosome and neuron projection development. Acts upstream of or within regulation of dendrite morphogenesis. Located in cytoplasmic stress granule; neuronal ribonucleoprotein granule; and nuclear speck. Is expressed in several structures, including adrenal cortex; alimentary system; brain; eye; and skin. Used to study Renpenning syndrome. Human ortholog(s) of this gene implicated in Renpenning syndrome. Orthologous to human PQBP1 (polyglutamine binding protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in CNS E14 (RPKM 52.5), CNS E11.5 (RPKM 48.3) and 27 other tissues See more
Orthologs
human all
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Genomic context

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See Pqbp1 in Genome Data Viewer
Location:
X A1.1; X 3.56 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (7760759..7765469, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (7894519..7899269, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene proviral integration site 2 Neighboring gene solute carrier family 35 (UDP-galactose transporter), member A2 Neighboring gene STARR-positive B cell enhancer ABC_E7684 Neighboring gene translocase of inner mitochondrial membrane 17b Neighboring gene proprotein convertase subtilisin/kexin type 1 inhibitor Neighboring gene ES cell-expressed Ras

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. PQBP-1 is expressed predominantly in the central nervous system during development. Qi Y, et al. Eur J Neurosci, 2005 Sep. PMID 16190883
  2. Knock-down of PQBP1 impairs anxiety-related cognition in mouse. Ito H, et al. Hum Mol Genet, 2009 Nov 15. PMID 19661183
  3. PQBP1, an intellectual disability causative gene, affects bone development and growth. Yang SS, et al. Biochem Biophys Res Commun, 2020 Mar 19. PMID 31959475
  4. The intellectual disability gene PQBP1 rescues Alzheimer's disease pathology. Tanaka H, et al. Mol Psychiatry, 2018 Oct. PMID 30283027, Free PMC Article
  5. PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain. Waragai M, et al. Biochem Biophys Res Commun, 2000 Jul 5. PMID 10873650

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation.
    Title: Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation.
  2. PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation.
    Title: PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation.
  3. PQBP1, an intellectual disability causative gene, affects bone development and growth.
    Title: PQBP1, an intellectual disability causative gene, affects bone development and growth.
  4. This study demonstrated that in utero gene therapy for Pqbp1-cKO mice by intraperitoneal injection of the PQBP1-AAV vector at E10 successfully rescued microcephaly with preserved cortical structures and improved behavioral abnormalities in Pqbp1-cKO mice.
    Title: In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells.
  5. These findings define PQBP1 and Dynamin 2 as components of a signaling pathway that orchestrates neuronal ciliary morphogenesis in the brain.
    Title: The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons.
  6. The results indicated that Sox2 regulated the transcription of PQBP1 in neural stem progenitor cells.
    Title: Sox2 transcriptionally regulates PQBP1, an intellectual disability-microcephaly causative gene, in neural stem progenitor cells.
  7. PQBP1 can affect the alternative splicing of multiple mRNAs and indicate specific affected targets whose splice site determination may contribute to the disease phenotype in PQBP1-linked neurological disorders
    Title: PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
  8. PQBP1 dysfunction in regulating gene expression underlies the abnormal behavior and cognition of PQBP1-Knock-down mice.
    Title: Knock-down of PQBP1 impairs anxiety-related cognition in mouse.
  9. PQBP-1 might be involved in neuronal proliferation and/or maturation
    Title: PQBP-1 is expressed predominantly in the central nervous system during development.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (2)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase binding ISO
Inferred from Sequence Orthology
more info
  
enables double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables double-stranded DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables ribonucleoprotein complex binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ribonucleoprotein complex binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in activation of innate immune response ISO
Inferred from Sequence Orthology
more info
  
involved_in activation of innate immune response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in alternative mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in alternative mRNA splicing, via spliceosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in alternative mRNA splicing, via spliceosome ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to exogenous dsRNA ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to exogenous dsRNA ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in defense response to virus ISO
Inferred from Sequence Orthology
more info
  
involved_in defense response to virus ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron projection development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of defense response to virus by host ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of defense response to virus by host ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of non-motile cilium assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of type I interferon production ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of type I interferon production ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within regulation of RNA splicing ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of dendrite morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within stress granule assembly ISO
Inferred from Sequence Orthology
more info
 PubMed 
Component Evidence Code Pubs
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary base ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuronal ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nuclear body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear speck ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
polyglutamine-binding protein 1
Names
38 kDa nuclear protein containing a WW domain
polyglutamine tract-binding protein 1
scurfy candidate 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001252528.2 → NP_001239457.1  polyglutamine-binding protein 1

    See identical proteins and their annotated locations for NP_001239457.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1.
    Source sequence(s)
    AL671978
    Consensus CDS
    CCDS29977.1
    UniProtKB/Swiss-Prot
    Q80WW2, Q91VJ5, Q9ER43, Q9QYY2
    UniProtKB/TrEMBL
    A2AER7, A2AER8
    Related
    ENSMUSP00000123657.2, ENSMUST00000156741.8
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

  2. NM_001252529.2 → NP_001239458.2  polyglutamine-binding protein 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1.
    Source sequence(s)
    AL671978
    UniProtKB/Swiss-Prot
    Q80WW2, Q91VJ5, Q9ER43, Q9QYY2
    UniProtKB/TrEMBL
    A2AER7
    Related
    ENSMUSP00000033497.3, ENSMUST00000033497.9

  3. NM_001426251.1 → NP_001413180.1  polyglutamine-binding protein 1

    Status: VALIDATED

    Source sequence(s)
    AL671978
    UniProtKB/Swiss-Prot
    Q80WW2, Q91VJ5, Q9ER43, Q9QYY2
    UniProtKB/TrEMBL
    A2AER7

  4. NM_019478.5 → NP_062351.2  polyglutamine-binding protein 1

    See identical proteins and their annotated locations for NP_062351.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AL671978
    Consensus CDS
    CCDS29977.1
    UniProtKB/Swiss-Prot
    Q80WW2, Q91VJ5, Q9ER43, Q9QYY2
    UniProtKB/TrEMBL
    A2AER7, A2AER8
    Related
    ENSMUSP00000111319.2, ENSMUST00000115655.8
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    7760759..7765469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006527654.3 → XP_006527717.1  polyglutamine-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006527717.1

    UniProtKB/Swiss-Prot
    Q80WW2, Q91VJ5, Q9ER43, Q9QYY2
    UniProtKB/TrEMBL
    A2AER7, A2AER8
    Related
    ENSMUSP00000111318.2, ENSMUST00000115654.8
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91VJ5.1 GenPept UniProtKB/Swiss-Prot:Q91VJ5

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