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PQBP1 Gene

protein-coding   GIFtS: 60
GCID: GC0XP048755

Polyglutamine Binding Protein 1

(Previous names: Sutherland-Haan X-linked mental retardation syndrome, mental...)
(Previous symbols: RENS1, MRXS8, SHS, MRX55, MRX2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polyglutamine Binding Protein 11 2     38 KDa Nuclear Protein Containing A WW Domain2 3
MRX551 2 5     MRXS32 5
MRXS81 2 5     Mental Retardation, X-Linked 551
RENS11 2 5     Sutherland-Haan X-Linked Mental Retardation Syndrome1
SHS1 2 5     Nuclear Protein Containing WW Domain 38 KD2
NPW382 3 5     Polyglutamine-Binding Protein 12
MRX21 2     Npw383
Mental Retardation, X-Linked 2 (Non-Dysmorphic)1 2     PQBP-13
Polyglutamine Tract-Binding Protein 12 3     

External Ids:    HGNC: 93301   Entrez Gene: 100842   Ensembl: ENSG000001021037   OMIM: 3004635   UniProtKB: O608283   

Export aliases for PQBP1 gene to outside databases

Previous GC identifers: GC0XP047558 GC0XP047015 GC0XP047801 GC0XP048512 GC0XP048639 GC0XP046411


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PQBP1 Gene:
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 mental retardation. Multiple alternatively spliced transcript variants that
encode different protein isoforms have been described for this gene.(provided by RefSeq, Nov 2009)

GeneCards Summary for PQBP1 Gene:
PQBP1 (polyglutamine binding protein 1) is a protein-coding gene. Diseases associated with PQBP1 include renpenning syndrome, and renpenning syndrome 1. GO annotations related to this gene include transcription coactivator activity.

UniProtKB/Swiss-Prot: PQBP1_HUMAN, O60828
Function: May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can
activate transcription directly or via association with the transcription machinery. May be involved in ATXN1
mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II
large subunit

Gene Wiki entry for PQBP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_079573.5  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PQBP1 gene promoter:
         Pax-5   Cart-1   Meis-1a   MRF-2   Meis-1   Meis-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPQBP1 promoter sequence
   Search Chromatin IP Primers for PQBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PQBP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

PQBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PQBP1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP048755:  view genomic region     (about GC identifiers)

Start:
48,755,195 bp from pter      End:
48,760,422 bp from pter
Size:
5,228 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PQBP1_HUMAN, O60828 (See protein sequence)
Recommended Name: Polyglutamine-binding protein 1  
Size: 265 amino acids; 30472 Da
Subunit: Interacts with POU3F2/Brn-2, ATXN1, TXNL4A, HTT and AR. Interaction with ATXN1 correlates positively with
the length of the polyglutamine tract. Interacts with RNA polymerase II large subunit in a
phosphorylation-dependent manner. Forms a ternary complex with ATXN1 mutant and phosphorylated RNA polymerase II
Secondary accessions: Q4VY25 Q4VY26 Q4VY27 Q4VY29 Q4VY30 Q4VY34 Q4VY35 Q4VY36 Q4VY37 Q4VY38
Q9GZP2 Q9GZU4 Q9GZZ4
Alternative splicing: 10 isoforms:  O60828-1   O60828-2   O60828-3   O60828-4   O60828-5   O60828-6   O60828-7   O60828-8   
O60828-9   O60828-10   

Explore the universe of human proteins at neXtProt for PQBP1: NX_O60828

Explore proteomics data for PQBP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PQBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (9 alternative transcripts): 
    NP_001027553.1  NP_001027554.1  NP_001027555.1  NP_001027556.1  NP_001161461.1  NP_001161462.1  NP_001161464.1  NP_005701.1  
    NP_652766.1  

    ENSEMBL proteins: 
     ENSP00000391759   ENSP00000247140   ENSP00000414861   ENSP00000393013   ENSP00000365747  
     ENSP00000365750   ENSP00000218224   ENSP00000379985   ENSP00000365731  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001202 WW_dom

    Graphical View of Domain Structure for InterPro Entry O60828

    ProtoNet protein and cluster: O60828

    UniProtKB/Swiss-Prot: PQBP1_HUMAN, O60828
    Domain: The WW domain may play a role as a transcriptional activator directly or via association with the
    transcription machinery. The WW domain mediates interaction with C-terminal domain of RNA polymerase II large
    subunit
    Similarity: Contains 1 WW domain


    PQBP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PQBP1_HUMAN, O60828
    Function: May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can
    activate transcription directly or via association with the transcription machinery. May be involved in ATXN1
    mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II
    large subunit

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9875212
    GO:0003713transcription coactivator activity TAS10198427
    GO:0005515protein binding ----
    GO:0043021ribonucleoprotein complex binding IDA--
         
    PQBP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PQBP1:
     Increased gamma-H2AX phosphory  Increased number of cells in m 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target PQBP1:
    hsa-mir-26b-5p (MIRT030062), hsa-mir-615-3p (MIRT039988), hsa-mir-149-5p (MIRT045513), hsa-mir-1 (MIRT023988)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PQBP1_HUMAN, O60828: Nucleus. Note=Colocalized with POU3F2. Colocalized with ATXN1 in nuclear inclusion bodies
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0010494cytoplasmic stress granule IEA--
    GO:0071598neuronal ribonucleoprotein granule IEA--

    PQBP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PQBP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for PQBP1):
        Spliceosome


    PQBP1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PQBP1
    Interactions:

        GeneGlobe Interaction Network for PQBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for PQBP1 (O608282, 3 ENSP000003657474) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WBP11Q9Y2W22, 3, ENSP000002611674MINT-2855501 MINT-2873564 MINT-2873583 I2D: score=5 STRING: ENSP00000261167
    CLTBP094972, 3, ENSP000003094154MINT-63179 I2D: score=4 STRING: ENSP00000309415
    SF3A2Q154282, 3, ENSP000002214944MINT-5205998 I2D: score=1 STRING: ENSP00000221494
    C14orf1Q9UKR52, 3MINT-63183 I2D: score=5 
    MED31Q9Y3C72, 3MINT-63184 I2D: score=5 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0034063stress granule assembly ----
    GO:0043484regulation of RNA splicing IMP--

    PQBP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PQBP1

    1 Novoseek inferred chemical compound relationship for PQBP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 70.6 18 16104847 (2), 16190883 (1), 15024694 (1), 16162498 (1) (see all 10)



    PQBP1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PQBP1 gene (11 alternative transcripts): 
    NM_001032381.1  NM_001032382.1  NM_001032383.1  NM_001032384.1  NM_001167989.1  NM_001167990.1  NM_001167992.1  NM_005710.2  
    NM_144495.2  NM_001032385.1  NM_144494.1  

    Unigene Cluster for PQBP1:

    Polyglutamine binding protein 1
    Hs.534384  [show with all ESTs]
    Unigene Representative Sequence: BM909365
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000447146 ENST00000473764 ENST00000247140 ENST00000472742 ENST00000486150
    ENST00000477997 ENST00000470062 ENST00000474671(uc004dlm.3 uc010nii.3 uc004dll.3 uc022bvw.1 uc022bvx.1 uc010nij.3)
    ENST00000443648 ENST00000456306 ENST00000463529(uc004dlj.1) ENST00000470059
    ENST00000465859 ENST00000376563(uc022bvv.1 uc004dle.3 uc004dlf.3 uc004dlg.3 uc004dln.3)
    ENST00000376566(uc004dlk.3) ENST00000218224(uc004dli.3) ENST00000396763(uc004dlh.3)
    ENST00000376548

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      QuantiTect SYBR Green Assays in human, mouse, rat PQBP1
      QuantiFast Probe-based Assays in human, mouse, rat PQBP1

    Additional mRNA sequence: 

    AB016533.1 AB041834.1 AB041836.1 AJ005893.1 AJ242829.1 AJ973593.1 AJ973594.1 AJ973596.1 
    AJ973597.1 AJ973600.1 AJ973604.1 AJ973605.1 AJ973606.1 BC012358.1 

    Selected DOTS entries (see all 31):

    DT.92431018  DT.100823757  DT.92012434  DT.446937  DT.121324834  DT.100823767  DT.121324826  DT.121324717 
    DT.100823761  DT.121324661  DT.100037787  DT.121324638  DT.86849717  DT.92441342  DT.100823762  DT.92441354 
    DT.101956108  DT.121324672  DT.121324681  DT.92441341  DT.100823760  DT.95264627  DT.100823766  DT.121324693 

    Selected AceView cDNA sequences (see all 388):

    AW575325 AA325970 BQ646767 BI962850 AJ005893 AA397799 BQ670990 BQ680828 
    CD621043 AB041835 AI368776 CA307736 AW160969 CA312023 AI143090 BQ005791 
    BU196666 BX281807 BU070986 AW516897 AA180504 BF725021 BM707793 CA446313 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PQBP1 (see all 21)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ·
    SP1:                    -     -     -     -                                         -     -                 -                 -     -                           
    SP2:                    -     -     -     -                                         -     -                 -                       -                           
    SP3:                                -     -                                         -     -                 -                       -                           
    SP4:                          -     -     -                                         -     -                 -                 -     -                           
    SP5:                                                                                      -                 -                       -                           

    ExUns: 10d
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for PQBP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PQBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCCTAGCT
    PQBP1 Expression
    About this image


    PQBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    PQBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PQBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534384

    UniProtKB/Swiss-Prot: PQBP1_HUMAN, O60828
    Tissue specificity: Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus,
    prostate, ovary, small intestine and peripheral blood leukocytes

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PQBP1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pqbp11 , 5 polyglutamine binding protein 11, 5 84.16(n)1
    87.45(a)1
      X (3.56 cM)5
    546331  NM_001252528.11  NP_001239457.11 
     78945195 
    lizard
    (Anolis carolinensis)
    Reptilia PQBP16
    polyglutamine binding protein 1
    85(a)
    1 ↔ 1
    GL343326.1(1350037-1358033)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.255632 Xenopus laevis transcribed sequence with weak similarity more 74.22(n)    BJ038743.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pqbp1l2 polyglutamine binding protein 1-like 75(n)   368734  AL921930.1 
    worm
    (Caenorhabditis elegans)
    Secernentea pqbp-1.11 pqbp-1.1 45.27(n)
    41.48(a)
      176847  NM_067489.4  NP_499890.2 
    rice
    (Oryza sativa)
    Liliopsida Os.250072 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 78.77(n)    AK063922.1 


    ENSEMBL Gene Tree for PQBP1 (if available)
    TreeFam Gene Tree for PQBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for PQBP1 (see all 114)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363574
    A colorectal cancer sample4--see VAR_0363572 R W mis40--------
    rs1219178991,2
    Cpathogenic148678811(+) TTACTA/GCTGGA 18 Y C mis10--------
    rs1813006071,2
    --48672884(+) GCCGGA/GCATGG 6 -- us2k10--------
    rs1857221891,2
    --48673098(+) GAGGCC/TGAGGT 6 -- us2k10--------
    rs1483481321,2
    C--48673187(+) AATTCA/GTCAGG 8 -- us2k10--------
    rs1919545801,2
    C--48673302(+) CACTCC/TAGCCT 8 -- us2k10--------
    rs2013025901,2
    --48673638(+) ACAGGA/GGCATT 9 -- us2k10--------
    rs70627371,2
    C,H--48674209(+) CCGGCC/ACTCAA 9 -- us2k1 ese35Minor allele frequency- A:0.00NS EA NA 420
    rs1406817191,2
    --48674300(+) CAACAC/GCGTAC 9 -- us2k10--------
    rs1836409871,2
    --48674422(+) GTTGTA/GGCCCC 9 -- us2k10--------

    HapMap Linkage Disequilibrium report for PQBP1 (48755195 - 48760422 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PQBP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528292CNV Gain19592680
    esv32909CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): PQBP1
    Locus Specific Mutation Databases (LSDB): PQBP1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PQBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for PQBP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300463   
    OMIM disorders: 309500  
    UniProtKB/Swiss-Prot: PQBP1_HUMAN, O60828
  • Renpenning syndrome 1 (RENS1) [MIM:309500]: A X-linked mental retardation syndrome characterized by
    mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall
    with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may
    appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas,
    cardiac malformations, cleft palate, and anal anomalies. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for PQBP1 (see all 28):    
    About MalaCards
    renpenning syndrome    renpenning syndrome 1    x-linked intellectual deficit, porteous type    x-linked intellectual deficit, golabi-ito-hall type
    x-linked intellectual deficit, sutherland-haan type    non-specific x-linked mental retardation    periventricular heterotopia    spastic diplegia
    mental retardation    intellectual disability    short stature    coloboma
    microcephaly    mental retardation, x-linked    cleft palate    breast and colorectal cancer
    spasticity    microphthalmia    tonsillitis    ataxia

    2 diseases from the University of Copenhagen DISEASES database for PQBP1:
    Intellectual disability     Microcephaly

    PQBP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for PQBP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microcephaly 78.6 3 16190883 (1), 15024694 (1), 16740914 (1)
    mental retardation 73.3 11 15355434 (1), 16190883 (1), 15024694 (1), 16162498 (1) (see all 8)
    short stature 57.8 1 16740914 (1)
    neurodegenerative diseases 38.8 3 16162498 (1), 16104847 (1), 18599155 (1)


    Export disorders for PQBP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PQBP1 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with PQBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. (PubMed id 14634649)1, 2, 3, 9 Kalscheuer V.M.... Ropers H.-H. (Nat. Genet. 2003)
    2. Polar amino acid-rich sequences bind to polyglutamine tracts. (PubMed id 9875212)1, 2, 3 Imafuku I.... Okazawa H. (Biochem. Biophys. Res. Commun. 1998)
    3. Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. (PubMed id 15024694)1, 3, 9 Lenski C....Schwartz C.E. (Am. J. Hum. Genet. 2004)
    4. Renpenning syndrome comes into focus. (PubMed id 15782410)1, 2 Stevenson R.E.... Schwartz C.E. (Am. J. Med. Genet. A 2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. (PubMed id 12062018)1, 2 Okazawa H.... Kanazawa I. (Neuron 2002)
    7. Genomic organization and alternative transcripts of the human PQBP-1 gene. (PubMed id 11163963)1, 2 Iwamoto K.... Ueda S. (Gene 2000)
    8. PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain. (PubMed id 10873650)1, 2 Waragai M.... Okazawa H. (Biochem. Biophys. Res. Commun. 2000)
    9. PQBP-1, a novel polyglutamine tract binding protein, inhibits transcription activation by Brn-2 and affects cell survival. (PubMed id 10332029)1, 2 Waragai M.... Okazawa H. (Hum. Mol. Genet. 1999)
    10. Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription. (PubMed id 10198427)1, 2 Komuro A.... Kato S. (Nucleic Acids Res. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 10084 HGNC: 9330 AceView: PQBP1 Ensembl:ENSG00000102103 euGenes: HUgn10084
    ECgene: PQBP1 Kegg: 10084 H-InvDB: PQBP1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PQBP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PQBP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PQBP1 gene:
    Search GeneIP for patents involving PQBP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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