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    PQBP1 polyglutamine binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 10084, updated on 5-Nov-2017
    Official Symbol
    PQBP1provided by HGNC
    Official Full Name
    polyglutamine binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9330
    See related
    Ensembl:ENSG00000102103 MIM:300463; Vega:OTTHUMG00000024128
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SHS; MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1
    Summary
    This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
    Orthologs
    Location:
    Xp11.23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (48897862..48903145)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48755160..48760422)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ES cell expressed Ras Neighboring gene proprotein convertase subtilisin/kexin type 1 inhibitor Neighboring gene translocase of inner mitochondrial membrane 17B Neighboring gene solute carrier family 35 member A2 Neighboring gene Pim-2 proto-oncogene, serine/threonine kinase

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Renpenning syndrome 1
    MedGen: C0796135 OMIM: 309500 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-09-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-09-06)

    ClinGen Genome Curation PagePubMed
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
      Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
    • Spliceosome, organism-specific biosystem (from KEGG)
      Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, conserved biosystem (from KEGG)
      Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, Prp19/CDC5L complex, organism-specific biosystem (from KEGG)
      Spliceosome, Prp19/CDC5L complex, organism-specific biosystemStructural complex; Genetic information processing; Spliceosome
    • Spliceosome, Prp19/CDC5L complex, conserved biosystem (from KEGG)
      Spliceosome, Prp19/CDC5L complex, conserved biosystemStructural complex; Genetic information processing; Spliceosome
    • mRNA Splicing, organism-specific biosystem (from REACTOME)
      mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
    • mRNA Splicing - Major Pathway, organism-specific biosystem (from REACTOME)
      mRNA Splicing - Major Pathway, organism-specific biosystemThe splicing of pre-mRNA occurs within a large, very dynamic complex, designated the 'spliceosome'. The 50-60S spliceosomes are estimated to be 40-60 nm in diameter, and have molecular weights in the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ribonucleoprotein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    alternative mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to exogenous dsRNA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
     
    neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of defense response to virus by host IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of RNA splicing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasmic stress granule IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    neuronal ribonucleoprotein granule IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    nuclear speck ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    polyglutamine-binding protein 1
    Names
    38 kDa nuclear protein containing a WW domain
    polyglutamine tract-binding protein 1

    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.

    Genomic

    1. NG_015967.1 RefSeqGene

      Range
      5345..10226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032381.1NP_001027553.1  polyglutamine-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001027553.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).
      Source sequence(s)
      BC012358, CN292761
      Consensus CDS
      CCDS14309.1
      UniProtKB/Swiss-Prot
      O60828
      UniProtKB/TrEMBL
      A0A0S2Z4V5
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues
    2. NM_001032382.1NP_001027554.1  polyglutamine-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001027554.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).
      Source sequence(s)
      AB016533, BC012358, CN292761
      Consensus CDS
      CCDS14309.1
      UniProtKB/Swiss-Prot
      O60828
      UniProtKB/TrEMBL
      A0A0S2Z4V5
      Related
      ENSP00000391759.2, OTTHUMP00000025808, ENST00000447146.6, OTTHUMT00000060777
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues
    3. NM_001032383.1NP_001027555.1  polyglutamine-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001027555.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).
      Source sequence(s)
      BC012358, BX362311, CN292761
      Consensus CDS
      CCDS14309.1
      UniProtKB/Swiss-Prot
      O60828
      UniProtKB/TrEMBL
      A0A0S2Z4V5
      Related
      ENSP00000365747.1, ENST00000376563.5
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues
    4. NM_001032384.1NP_001027556.1  polyglutamine-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001027556.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).
      Source sequence(s)
      AJ005893, BC012358, BE396796
      Consensus CDS
      CCDS14309.1
      UniProtKB/Swiss-Prot
      O60828
      UniProtKB/TrEMBL
      A0A0S2Z4V5
      Related
      ENSP00000379985.1, ENST00000396763.5
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues
    5. NM_001167989.1NP_001161461.1  polyglutamine-binding protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001161461.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter by 1 aa when it is compared to isoform 1.
      Source sequence(s)
      AJ973597, AJ973606, BE385548, BI818141, CD365745, CN292761
      UniProtKB/Swiss-Prot
      O60828
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues
    6. NM_001167990.1NP_001161462.1  polyglutamine-binding protein 1 isoform 5

      See identical proteins and their annotated locations for NP_001161462.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and uses a different splice site in the coding region, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1.
      Source sequence(s)
      BC012358, CD051018
      UniProtKB/Swiss-Prot
      O60828
    7. NM_001167992.1NP_001161464.1  polyglutamine-binding protein 1 isoform 6

      See identical proteins and their annotated locations for NP_001161464.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks a 5' UTR and uses different splice sites in the coding region, compared to variant 1. The resulting protein (isoform 6) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AJ973605, BC012358, CN292761
      UniProtKB/Swiss-Prot
      O60828
    8. NM_005710.2NP_005701.1  polyglutamine-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_005701.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).
      Source sequence(s)
      AJ005893, BC012358
      Consensus CDS
      CCDS14309.1
      UniProtKB/Swiss-Prot
      O60828
      UniProtKB/TrEMBL
      A0A0S2Z4V5
      Related
      ENSP00000218224.4, ENST00000218224.8
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues
    9. NM_144495.2NP_652766.1  polyglutamine-binding protein 1 isoform 3

      See identical proteins and their annotated locations for NP_652766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains a different 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1. Variant 7 is also known as variant PQBP-1d.
      Source sequence(s)
      AJ973593, BC012358, CN292761
      Consensus CDS
      CCDS55412.1
      UniProtKB/Swiss-Prot
      O60828
      Related
      ENSP00000365750.4, ENST00000376566.8
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      48897862..48903145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029207.1XP_016884696.1  polyglutamine-binding protein 1 isoform X2

      UniProtKB/Swiss-Prot
      O60828
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues
    2. XM_005272571.3XP_005272628.1  polyglutamine-binding protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005272628.1

      UniProtKB/Swiss-Prot
      O60828
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues
    3. XM_005272572.4XP_005272629.1  polyglutamine-binding protein 1 isoform X3

      See identical proteins and their annotated locations for XP_005272629.1

      UniProtKB/Swiss-Prot
      O60828
      Related
      ENSP00000247140.4, OTTHUMP00000025809, ENST00000247140.8, OTTHUMT00000060778
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues
    4. XM_011543884.2XP_011542186.1  polyglutamine-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011542186.1

      UniProtKB/Swiss-Prot
      O60828
      UniProtKB/TrEMBL
      A0A0S2Z4V5
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      48786337..48791564
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001032385.1: Suppressed sequence

      Description
      NM_001032385.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_144494.1: Suppressed sequence

      Description
      NM_144494.1: This RefSeq was permanently suppressed because it contains intronic sequence and insufficient support exists for the transcript and the protein.
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