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

Gene ID: 10084, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:9330
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]
Expression
Ubiquitous expression in ovary (RPKM 25.3), adrenal (RPKM 17.1) and 25 other tissues See more
Orthologs
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Genomic context

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See PQBP1 in Genome Data Viewer
Location:
Xp11.23
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48897930..48903143)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48308411..48313619)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48755213..48760420)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48689342-48689842 Neighboring gene ES cell expressed Ras Neighboring gene proprotein convertase subtilisin/kexin type 1 inhibitor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:48726714-48727913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29617 Neighboring gene translocase of inner mitochondrial membrane 17B Neighboring gene solute carrier family 35 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20826 Neighboring gene Pim-2 proto-oncogene, serine/threonine kinase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Frameshift PQBP-1 mutants K192S(fs*7) and R153S(fs*41) implicated in X-linked intellectual disability form stable dimers. Rahman SK, et al. J Struct Biol, 2019 Jun 1. PMID 30951824
  2. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Kleefstra T, et al. Clin Genet, 2004 Oct. PMID 15355434
  3. Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability. Chen YW, et al. Int J Mol Sci, 2021 Feb 24. PMID 33668121, Free PMC Article
  4. Renpenning syndrome comes into focus. Stevenson RE, et al. Am J Med Genet A, 2005 May 1. PMID 15782410
  5. Polyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stress. Marubuchi S, et al. J Neurochem, 2005 Nov. PMID 16104847

See all (117) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression.
    Title: Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression.
  2. The role of PQBP1 in neural development and function.
    Title: The role of PQBP1 in neural development and function.
  3. PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.
    Title: PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.
  4. Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation'.
    Title: Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation'.
  5. 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.
  6. Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.
    Title: Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.
  7. 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.
  8. Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
    Title: Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
  9. Renpenning syndrome in an Indian patient.
    Title: Renpenning syndrome in an Indian patient.
  10. Renpenning syndrome in a female.
    Title: Renpenning syndrome in a female.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-04-09)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-09)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ribonucleoprotein complex binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ribonucleoprotein complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription coactivator activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
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 cellular response to exogenous dsRNA IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in defense response to virus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of defense response to virus by host IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of type I interferon production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within regulation of RNA splicing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic stress granule IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal ribonucleoprotein granule IEA
Inferred from Electronic Annotation
more info
  
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
  
located_in nuclear speck ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus TAS
Traceable Author Statement
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

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.

Genomic

  1. NG_015967.2 RefSeqGene

    Range
    5002..10215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032381.2 → NP_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
    C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
    UniProtKB/TrEMBL
    A0A0S2Z4V5, A0A0S2Z556
    Related
    ENSP00000365747.1, ENST00000376563.6
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

  2. NM_001032382.2 → NP_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
    C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
    UniProtKB/TrEMBL
    A0A0S2Z4V5, A0A0S2Z556
    Related
    ENSP00000391759.2, ENST00000447146.7
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

  3. NM_001032383.2 → NP_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
    C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
    UniProtKB/TrEMBL
    A0A0S2Z4V5, A0A0S2Z556
    Related
    ENSP00000498362.1, ENST00000651767.1
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

  4. NM_001032384.1 → NP_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
    C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
    UniProtKB/TrEMBL
    A0A0S2Z4V5, A0A0S2Z556
    Related
    ENSP00000379985.1, ENST00000396763.6
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

  5. NM_001167989.2 → NP_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/TrEMBL
    A0A0S2Z556
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

  6. NM_001167990.2 → NP_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/TrEMBL
    A0A0S2Z556

  7. NM_001167992.1 → NP_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_005710.2 → NP_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
    C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
    UniProtKB/TrEMBL
    A0A0S2Z4V5, A0A0S2Z556
    Related
    ENSP00000218224.4, ENST00000218224.9
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

  9. NM_144495.3 → NP_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:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    48897930..48903143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029207.2 → XP_016884696.1  polyglutamine-binding protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z556
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

  2. XM_047441754.1 → XP_047297710.1  polyglutamine-binding protein 1 isoform X3

  3. XM_005272571.4 → XP_005272628.1  polyglutamine-binding protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005272628.1

    UniProtKB/TrEMBL
    A0A0S2Z556
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

  4. XM_005272572.5 → XP_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, ENST00000247140.8
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

  5. XM_047441753.1 → XP_047297709.1  polyglutamine-binding protein 1 isoform X2

  6. XM_011543884.3 → XP_011542186.1  polyglutamine-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011542186.1

    UniProtKB/Swiss-Prot
    C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
    UniProtKB/TrEMBL
    A0A0S2Z4V5, A0A0S2Z556
    Conserved Domains (1) summary
    smart00456
    Location:47 → 78
    WW; Domain with 2 conserved Trp (W) residues

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791820.1 Reference GRCh38.p14 PATCHES

    Range
    56765..61978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333395.1 → XP_054189370.1  polyglutamine-binding protein 1 isoform X2

  2. XM_054333397.1 → XP_054189372.1  polyglutamine-binding protein 1 isoform X3

  3. XM_054333394.1 → XP_054189369.1  polyglutamine-binding protein 1 isoform X2

  4. XM_054333398.1 → XP_054189373.1  polyglutamine-binding protein 1 isoform X3

  5. XM_054333396.1 → XP_054189371.1  polyglutamine-binding protein 1 isoform X2

  6. XM_054333393.1 → XP_054189368.1  polyglutamine-binding protein 1 isoform X1

    UniProtKB/Swiss-Prot
    C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
    UniProtKB/TrEMBL
    A0A0S2Z4V5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    48308411..48313619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326332.1 → XP_054182307.1  polyglutamine-binding protein 1 isoform X2

  2. XM_054326334.1 → XP_054182309.1  polyglutamine-binding protein 1 isoform X3

  3. XM_054326331.1 → XP_054182306.1  polyglutamine-binding protein 1 isoform X2

  4. XM_054326335.1 → XP_054182310.1  polyglutamine-binding protein 1 isoform X3

  5. XM_054326333.1 → XP_054182308.1  polyglutamine-binding protein 1 isoform X2

  6. XM_054326330.1 → XP_054182305.1  polyglutamine-binding protein 1 isoform X1

    UniProtKB/Swiss-Prot
    C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
    UniProtKB/TrEMBL
    A0A0S2Z4V5

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60828.1 GenPept UniProtKB/Swiss-Prot:O60828

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