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

    Gene ID: 10084, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PQBP1 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48897930..48903143)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48308411..48313619)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001032381.2NP_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:4778
      WW; Domain with 2 conserved Trp (W) residues
    2. NM_001032382.2NP_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:4778
      WW; Domain with 2 conserved Trp (W) residues
    3. NM_001032383.2NP_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: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
      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:4778
      WW; Domain with 2 conserved Trp (W) residues
    5. NM_001167989.2NP_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:4778
      WW; Domain with 2 conserved Trp (W) residues
    6. NM_001167990.2NP_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_001167992.1NP_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
      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:4778
      WW; Domain with 2 conserved Trp (W) residues
    9. NM_144495.3NP_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: GCF_000001405.40-RS_2023_10

    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_017029207.2XP_016884696.1  polyglutamine-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z556
      Conserved Domains (1) summary
      smart00456
      Location:4778
      WW; Domain with 2 conserved Trp (W) residues
    2. XM_047441754.1XP_047297710.1  polyglutamine-binding protein 1 isoform X3

    3. XM_005272571.4XP_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:4778
      WW; Domain with 2 conserved Trp (W) residues
    4. XM_005272572.5XP_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:4778
      WW; Domain with 2 conserved Trp (W) residues
    5. XM_047441753.1XP_047297709.1  polyglutamine-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z556
    6. XM_011543884.3XP_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:4778
      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_054333395.1XP_054189370.1  polyglutamine-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z556
    2. XM_054333397.1XP_054189372.1  polyglutamine-binding protein 1 isoform X3

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

      UniProtKB/TrEMBL
      A0A0S2Z556
    4. XM_054333398.1XP_054189373.1  polyglutamine-binding protein 1 isoform X3

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

      UniProtKB/TrEMBL
      A0A0S2Z556
    6. XM_054333393.1XP_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, A0A0S2Z556

    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_054326332.1XP_054182307.1  polyglutamine-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z556
    2. XM_054326334.1XP_054182309.1  polyglutamine-binding protein 1 isoform X3

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

      UniProtKB/TrEMBL
      A0A0S2Z556
    4. XM_054326335.1XP_054182310.1  polyglutamine-binding protein 1 isoform X3

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

      UniProtKB/TrEMBL
      A0A0S2Z556
    6. XM_054326330.1XP_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, A0A0S2Z556

    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.