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

    Gene ID: 54633, updated on 21-Apr-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 double-stranded DNA binding activity; protein C-terminus 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 1st branchial arch maxillary component; adrenal cortex; central nervous system; eye; and limb. 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, Apr 2022]
    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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    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. PQBP1, an intellectual disability causative gene, affects bone development and growth. Yang SS, et al. Biochem Biophys Res Commun, 2020 Mar 19. PMID 31959475
    2. Knock-down of PQBP1 impairs anxiety-related cognition in mouse. Ito H, et al. Hum Mol Genet, 2009 Nov 15. PMID 19661183
    3. PQBP-1 is expressed predominantly in the central nervous system during development. Qi Y, et al. Eur J Neurosci, 2005 Sep. PMID 16190883
    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 (37) 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)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (2) 

    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 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
    acts_upstream_of_or_within RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in activation of innate immune response ISO
    Inferred from Sequence Orthology
    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 defense response to virus ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within mRNA processing 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 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
    		  
    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

    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
      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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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