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

Gene ID: 54633, updated on 9-Mar-2023

Summary

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
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Genomic context

See Pqbp1 in Genome Data Viewer
Location:
X A1.1; X 3.56 cM
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (7760758..7765508, 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 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
 
located_in cilium ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

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_001252528.1NP_001239457.1  polyglutamine-binding protein 1 isoform 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. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AW488646, CD741483, CJ143105, CN718083
    Consensus CDS
    CCDS29977.1
    UniProtKB/Swiss-Prot
    Q91VJ5, Q9QYY2
    UniProtKB/TrEMBL
    A2AER7
    Related
    ENSMUSP00000123657.2, ENSMUST00000156741.8
    Conserved Domains (1) summary
    smart00456
    Location:4778
    WW; Domain with 2 conserved Trp (W) residues
  2. NM_001252529.1NP_001239458.1  polyglutamine-binding protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an upstream, in-frame start codon, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK077652, AW488646, BQ550428
    UniProtKB/Swiss-Prot
    Q91VJ5
    Conserved Domains (1) summary
    smart00456
    Location:78109
    WW; Domain with 2 conserved Trp (W) residues
  3. NM_019478.4NP_062351.2  polyglutamine-binding protein 1 isoform 1

    See identical proteins and their annotated locations for NP_062351.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL671978, AW456196, AW488646, BC157976
    Consensus CDS
    CCDS29977.1
    UniProtKB/Swiss-Prot
    Q91VJ5, Q9QYY2
    UniProtKB/TrEMBL
    A2AER7
    Related
    ENSMUSP00000111319.2, ENSMUST00000115655.8
    Conserved Domains (1) summary
    smart00456
    Location:4778
    WW; Domain with 2 conserved Trp (W) residues

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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
    7760758..7765508 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_006527717.1

    UniProtKB/Swiss-Prot
    Q91VJ5, Q9QYY2
    UniProtKB/TrEMBL
    A2AER7
    Conserved Domains (1) summary
    smart00456
    Location:4778
    WW; Domain with 2 conserved Trp (W) residues