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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PQBP1 Gene

protein-coding   GIFtS: 56
GCID: GC0XP048755

polyglutamine binding protein 1

(Previous names: Sutherland-Haan X-linked mental retardation syndrome, mental...)
(Previous symbols: RENS1, MRXS8, SHS, MRX55)
 Explore 16 diseases affiliated with
PQBP1 via our new
 Human Malady Compendium 
Biological research products
for PQBP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Polyglutamine Binding Protein 11 2     MRXS32 5
MRX551 2 5     Mental Retardation, X-Linked 551
MRXS81 2 5     Sutherland-Haan X-Linked Mental Retardation Syndrome1
RENS11 2 5     Nuclear Protein Containing WW Domain 38 KD2
SHS1 2 5     Polyglutamine-Binding Protein 12
NPW382 3 5     Npw383
Polyglutamine Tract-Binding Protein 12 3     PQBP-13
38 KDa Nuclear Protein Containing A WW Domain2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PQBP1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PQBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Nucleus. Note=Co-localized with POU3F2. Co-localized with ATXN1 in nuclear inclusion bodies
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60828

  • PQBP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    Uscn Proteins for PQBP1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PQBP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001202 WW_Rsp5_WWP

    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9875212
    GO:0003713transcription coactivator activity TAS10198427


    PQBP1 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA Splicing - Major Pathway
    Spliceosome0.31

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for PQBP1):
        Spliceosome


    PQBP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PQBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/23 Interacting proteins for PQBP1 (O608282, 3 ENSP000003657474) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0034063stress granule assembly ----


    PQBP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PQBP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PQBP1
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about PQBP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Additional cDNA 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 

    24/29 DOTS entries (see all 29):

    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 

    24/388 AceView cDNA sequences (see all 388):

    AV708154 CB269907 BM824491 BQ183534 AA337724 BM458719 BM829807 AA360803 
    BM706406 AB041833 BQ637376 BM894099 AA397799 BU736361 BU196666 CD674767 
    BC012358 BP347487 NM_005710 BM785568 BP871473 BQ670990 BU856642 AA315895 

    GeneLoc Exon Structure

    5/21 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PQBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACCCTAGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PQBP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PQBP1

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PQBP1 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pqbp11 , 5 polyglutamine binding protein 11, 5 84.73(n)1
    88.17(a)1
      X (3.56 cM)5
    546331  NM_001252529.11  NP_001239458.11 
     78945195 
    lizard
    (Anolis carolinensis)
    Reptilia PQBP16
    --
    70(a)
    1 ↔ 1
    GL343326.1(1350037-1354340)
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta PQBP16
    Poly-glutamine tract binding protein 1
    20(a)
    1 ↔ 1
    3R(20891527-20892440)
    worm
    (Caenorhabditis elegans)
    Secernentea pqbp-1.11 Protein PQBP-1.1 45.54(n)
    41.96(a)
      176847  NM_067489.3  NP_499890.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G410206
    polyglutamine-binding protein 1
    17(a)
    1 ↔ 1
    2(17117263-17121119)
    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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/58 NCBI SNPs in PQBP1 are shown (see all 58    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219178991,2
    Cpathogenic48759221(+) TTACTA/GCTGGA 18 Y C mis10--------
    rs1813006071,2
    --48753294(+) GCCGGA/GCATGG 8 -- us2k1 int10--------
    rs1857221891,2
    --48753508(+) GAGGCC/TGAGGT 8 -- us2k1 int10--------
    rs1483481321,2
    --48753597(+) AATTCA/GTCAGG 10 -- us2k1 int10--------
    rs1919545801,2
    --48753712(+) CACTCC/TAGCCT 10 -- us2k1 int10--------
    rs70627371,2
    C,H--48754619(+) CCGGCC/ACTCAA 11 -- us2k1 int1 ese35Minor allele frequency- A:0.00NS EA NA 420
    rs1406817191,2
    --48754710(+) CAACAC/GCGTAC 11 -- us2k1 int10--------
    rs1836409871,2
    --48754832(+) GTTGTA/GGCCCC 11 -- us2k1 int10--------
    rs557215101,2
    C,--48754937(+) GCCTCC/TCCCGC 11 -- us2k1 int10--------
    rs1921065371,2
    C,--48755058(+) CAGTCA/GGGCCA 11 -- us2k1 ut510--------

    HapMap Linkage Disequilibrium report for PQBP1 (48755195 - 48760422 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PQBP1
         1 CNV: 7789
    Human Gene Mutation Database (HGMD): PQBP1

    Locus Specific Mutation Databases (LSDB): PQBP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PQBP1 for disorders           About GeneDecksing

    OMIM gene information: 300463   
    OMIM disorders: 309500  
    UniProtKB/Swiss-Prot: PQBP1_HUMAN, O60828
  • Defects in PQBP1 are the cause of Renpenning syndrome 1 (RENS1) [MIM:309500]; also known as Sutherland-Haan
  • X-linked mental retardation syndrome (SHS) or X-linked mental retardation syndromes MRXS3/MRXS8/MRX55. The clinical
    features are 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. RENS1 is more frequently in males than in females where
    little or no expression is found

    16 diseases for PQBP1:    About MalaCards
    mental retardation, x-linked    renpenning syndrome 1    renpenning syndrome    mental retardation syndrome
    periventricular heterotopia    short stature    spastic diplegia    heterotopia
    intellectual disability    neurodegenerative disease    microcephaly    coloboma
    spasticity    ataxia    prostatitis    neuronitis

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

    4 Novoseek 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)
    About This Section

    PubMed articles for PQBP1 gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with PQBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polar amino acid-rich sequences bind to polyglutamine tracts. (PubMed id 9875212)1, 2, 3 Imafuku I.... Okazawa H. (1998)
    2. Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental r etardation in another family with microcephaly. (PubMed id 15024694)1, 3, 9 Lenski C....Schwartz C.E. (2004)
    3. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. (PubMed id 14634649)1, 2, 9 Kalscheuer V.M.... Ropers H.-H. (2003)
    4. Renpenning syndrome comes into focus. (PubMed id 15782410)1, 2 Stevenson R.E.... Schwartz C.E. (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. (2004)
    6. Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. (PubMed id 12062018)1, 2 Okazawa H.... Kanazawa I. (2002)
    7. Genomic organization and alternative transcripts of the human PQBP-1 gene. (PubMed id 11163963)1, 2 Iwamoto K.... Ueda S. (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. (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. (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. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 10084 HGNC: 9330 AceView: PQBP1 Ensembl:ENSG00000102103 euGenes: HUgn10084
    ECgene: PQBP1 Kegg: 10084 H-InvDB: PQBP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PQBP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PQBP1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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