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)
| |
Aliases for PQBP1 gene
(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 | | |
Export aliases for PQBP1 gene to outside databasesPrevious GC identifers: GC0XP047558 GC0XP047015 GC0XP047801 GC0XP048512 GC0XP048639 GC0XP046411 |
Summaries for PQBP1 gene(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 encodedprotein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and othersyndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode differentprotein isoforms have been described for this gene.(provided by RefSeq, Nov 2009) UniProtKB/Swiss-Prot: PQBP1_HUMAN, O60828Function: May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activatetranscription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-inducedcell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit Gene Wiki entry for PQBP1
|
Genomic Views 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 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
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: Xp11.23PQBP1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

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 |
|
Proteins for PQBP1 gene
(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 thelength of the polyglutamine tract. Interacts with RNA polymerase II large subunit in a phosphorylation-dependentmanner. 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 Q9GZP2Q9GZU4 Q9GZZ4Alternative 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 PhosphoSitePlus2View neXtProt modification sites for NX_O60828 PQBP1 Protein expression data from MOPED and PaxDb: About this image 
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 Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
PQBP1 for ontologies About GeneDecksing
PQBP1 Antibody Products: Assay Products for PQBP1: |
Protein
Domains / Families for PQBP1 gene(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:Graphical View of Domain Structure for InterPro Entry O60828ProtoNet protein and cluster: O60828 UniProtKB/Swiss-Prot: PQBP1_HUMAN, O60828Domain: The WW domain may play a role as a transcriptional activator directly or via association with the transcriptionmachinery. The WW domain mediates interaction with C-terminal domain of RNA polymerase II large subunitSimilarity: Contains 1 WW domain |
Function for PQBP1 gene
(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, O60828Function: May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activatetranscription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-inducedcell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PQBP1 (see all 11) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PQBP1 (see all 10) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 9): PQBP1 (NM_005710) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PQBP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PQBP1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PQBP1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
PQBP1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for PQBP1:
|
Pathways & Interactions for PQBP1 gene
(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-pathway | contained gene-specific pathways |
|---|
| 1 | mRNA Splicing - Major Pathway | |
Pathway sources See GeneCards unified pathways Show all pathways
1
Kegg Pathway (Kegg details for PQBP1):
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)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | | GO:0034063 | stress granule assembly |
-- | -- |
PQBP1 for ontologies About GeneDecksing
|
Drugs & Compounds for PQBP1 gene(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 Tocris compounds for PQBP1 1 Novoseek chemical compound relationship for PQBP1 gene About this table
Search CenterWatch for drugs/clinical trials and news about PQBP1 
|
Transcripts for PQBP1 gene(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,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
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: BM90936518 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
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PQBP1 (see all 11) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PQBP1 (see all 10) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 9): PQBP1 (NM_005710) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PQBP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PQBP1  |
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
|
Expression for PQBP1 gene
(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
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, O60828Tissue specificity: Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate,ovary, small intestine and peripheral blood leukocytes SABiosciences Custom PCR Arrays for PQBP1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PQBP1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat PQBP1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PQBP1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PQBP1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PQBP1 |
Orthologs for PQBP1 gene
(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 for PQBP1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for PQBP1 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr X pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
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 |
|
Disorders
/ Diseases for PQBP1 gene
(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-HaanX-linked mental retardation syndrome (SHS) or X-linked mental retardation syndromes MRXS3/MRXS8/MRX55. The clinicalfeatures are mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrowand tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nosemay 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 wherelittle or no expression is found 16 diseases for PQBP1: About MalaCardsmental 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
Export disorders for PQBP1 gene to outside databases
|
Publications for PQBP1 gene (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 |
- Polar amino acid-rich sequences bind to polyglutamine tracts. (PubMed id 9875212)1, 2, 3 Imafuku I.... Okazawa H. (1998)
- 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)
- 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)
- Renpenning syndrome comes into focus. (PubMed id 15782410)1, 2 Stevenson R.E.... Schwartz C.E. (2005)
- 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)
- Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. (PubMed id 12062018)1, 2 Okazawa H.... Kanazawa I. (2002)
- Genomic organization and alternative transcripts of the human PQBP-1 gene. (PubMed id 11163963)1, 2 Iwamoto K.... Ueda S. (2000)
- 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)
- 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)
- Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription. (PubMed id 10198427)1, 2 Komuro A.... Kato S. (1999)
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External Searches for PQBP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing PQBP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing PQBP1 gene
(According to HUGE)
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Specialized Databases showing PQBP1 gene(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
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| Name | Description |
| PharmGKB entry for PQBP1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PQBP1 |
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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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Products for PQBP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for PQBP1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PQBP1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PQBP1 | | OriGene Protein Over-expression Lysate for PQBP1 | | Browse OriGene Fluorogenic Cell Assay Kits | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for PQBP1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PQBP1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PQBP1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for PQBP1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PQBP1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PQBP1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PQBP1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PQBP1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PQBP1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PQBP1 |
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| |  |  |  |  | | | | | Recombinant Protein for PQBP1 |
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| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PQBP1 |
|  |  |  | | | Search ThermoFisher Antibodies for PQBP1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PQBP1 |
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