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Aliases for PQBP1 Gene

Aliases for PQBP1 Gene

  • Polyglutamine Binding Protein 1 2 3 5
  • 38 KDa Nuclear Protein Containing A WW Domain 3 4
  • Polyglutamine Tract-Binding Protein 1 3 4
  • NPW38 3 4
  • Sutherland-Haan X-Linked Mental Retardation Syndrome 2
  • Mental Retardation, X-Linked 2 (Non-Dysmorphic) 2
  • Mental Retardation, X-Linked 55 2
  • PQBP-1 4
  • MRXS3 3
  • MRX55 3
  • MRXS8 3
  • RENS1 3
  • MRX2 3
  • SHS 3

External Ids for PQBP1 Gene

Previous HGNC Symbols for PQBP1 Gene

  • RENS1
  • MRXS8
  • SHS
  • MRX55
  • MRX2

Previous GeneCards Identifiers for PQBP1 Gene

  • GC0XP047558
  • GC0XP047015
  • GC0XP047801
  • GC0XP048512
  • GC0XP048639
  • GC0XP048755
  • GC0XP046411

Summaries for PQBP1 Gene

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 alpha-thalassemia/mental retardation syndrome. Among its related pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include transcription coactivator activity and ribonucleoprotein complex binding.

UniProtKB/Swiss-Prot for PQBP1 Gene

  • Probably functions as scaffold protein that is part of numerous complexes and thereby plays a role in pre-mRNA splicing, transcription regulation and neuron development. Required for normal alternative splicing of target pre-mRNA species (PubMed:23512658). 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PQBP1 Gene

Genomics for PQBP1 Gene

Regulatory Elements for PQBP1 Gene

Promoters for PQBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PQBP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PQBP1 Gene

Chromosome:
X
Start:
48,897,912 bp from pter
End:
48,903,145 bp from pter
Size:
5,234 bases
Orientation:
Plus strand

Genomic View for PQBP1 Gene

Genes around PQBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PQBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PQBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PQBP1 Gene

Proteins for PQBP1 Gene

  • Protein details for PQBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60828-PQBP1_HUMAN
    Recommended name:
    Polyglutamine-binding protein 1
    Protein Accession:
    O60828
    Secondary Accessions:
    • Q4VY25
    • Q4VY26
    • Q4VY27
    • Q4VY29
    • Q4VY30
    • Q4VY34
    • Q4VY35
    • Q4VY36
    • Q4VY37
    • Q4VY38
    • Q9GZP2
    • Q9GZU4
    • Q9GZZ4

    Protein attributes for PQBP1 Gene

    Size:
    265 amino acids
    Molecular mass:
    30472 Da
    Quaternary structure:
    • 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. Interacts (via C-terminus) with TXNL4A and CD2BP2. Interacts (via WW domain) with ATN1, WBP11 and SF3B1, and may interact with additional splice factors.

    Three dimensional structures from OCA and Proteopedia for PQBP1 Gene

    Alternative splice isoforms for PQBP1 Gene

neXtProt entry for PQBP1 Gene

Proteomics data for PQBP1 Gene at MOPED

Post-translational modifications for PQBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PQBP1 Gene

Domains & Families for PQBP1 Gene

Gene Families for PQBP1 Gene

Protein Domains for PQBP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PQBP1 Gene

Graphical View of Domain Structure for InterPro Entry

O60828

UniProtKB/Swiss-Prot:

PQBP1_HUMAN :
  • 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 WBP11, ATN1, SF3B1 and the C-terminal domain of the RNA polymerase II large subunit.
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 WBP11, ATN1, SF3B1 and the C-terminal domain of the RNA polymerase II large subunit.
  • Except for the WW domain, the protein is intrinsically disordered.
  • Contains 1 WW domain.
genes like me logo Genes that share domains with PQBP1: view

Function for PQBP1 Gene

Molecular function for PQBP1 Gene

UniProtKB/Swiss-Prot Function:
Probably functions as scaffold protein that is part of numerous complexes and thereby plays a role in pre-mRNA splicing, transcription regulation and neuron development. Required for normal alternative splicing of target pre-mRNA species (PubMed:23512658). 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) - Molecular Function for PQBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9875212
GO:0005515 protein binding IEA,IPI 16713569
genes like me logo Genes that share ontologies with PQBP1: view
genes like me logo Genes that share phenotypes with PQBP1: view

Human Phenotype Ontology for PQBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PQBP1 Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PQBP1 Gene

Localization for PQBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PQBP1 Gene

Nucleus. Nucleus speckle. Note=Colocalizes with SRSF2 in nuclear speckles (By similarity). Colocalized with POU3F2. Colocalized with ATXN1 in nuclear inclusion bodies. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PQBP1 Gene COMPARTMENTS Subcellular localization image for PQBP1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PQBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10198427
GO:0005654 nucleoplasm IDA --
GO:0072372 primary cilium IEA --
genes like me logo Genes that share ontologies with PQBP1: view

Pathways & Interactions for PQBP1 Gene

SuperPathways for PQBP1 Gene

Superpath Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with PQBP1: view

Pathways by source for PQBP1 Gene

1 KEGG pathway for PQBP1 Gene

Gene Ontology (GO) - Biological Process for PQBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0034063 stress granule assembly IDA --
GO:0043484 regulation of RNA splicing IMP 23512658
genes like me logo Genes that share ontologies with PQBP1: view

No data available for SIGNOR curated interactions for PQBP1 Gene

Drugs & Compounds for PQBP1 Gene

(1) Drugs for PQBP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PQBP1: view

Transcripts for PQBP1 Gene

Unigene Clusters for PQBP1 Gene

Polyglutamine binding protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PQBP1 Gene

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: - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - -
SP8: - - - -
SP9: - - - - - - -
SP10: - - - -
SP11: - - -
SP12: - - -
SP13: - - - - - - - - -
SP14: - - - - - -
SP15: - - - - - -
SP16: - - - - - - -
SP17: - - - - -
SP18: - - -
SP19: - - - - - - - -
SP20: - -
SP21: - -

ExUns: 10d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for PQBP1 Gene

GeneLoc Exon Structure for
PQBP1
ECgene alternative splicing isoforms for
PQBP1

Expression for PQBP1 Gene

mRNA expression in normal human tissues for PQBP1 Gene

Protein differential expression in normal tissues from HIPED for PQBP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PQBP1 Gene



SOURCE GeneReport for Unigene cluster for PQBP1 Gene Hs.534384

mRNA Expression by UniProt/SwissProt for PQBP1 Gene

O60828-PQBP1_HUMAN
Tissue specificity: Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with PQBP1: view

Protein tissue co-expression partners for PQBP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PQBP1 Gene

Orthologs for PQBP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PQBP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PQBP1 35
  • 89.86 (n)
  • 93.92 (a)
PQBP1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PQBP1 35
  • 87.8 (n)
  • 93.21 (a)
PQBP1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pqbp1 35
  • 84.16 (n)
  • 87.45 (a)
Pqbp1 16
Pqbp1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PQBP1 35
  • 99.87 (n)
  • 100 (a)
PQBP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pqbp1 35
  • 84.03 (n)
  • 87.07 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PQBP1 36
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PQBP1 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11126 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25563 35
zebrafish
(Danio rerio)
Actinopterygii pqbp1 35
  • 61.43 (n)
  • 64.46 (a)
pqbp1l 35
pqbp1 36
  • 61 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6852 35
worm
(Caenorhabditis elegans)
Secernentea pqbp-1.1 35
  • 45.27 (n)
  • 41.48 (a)
pqbp-1.1 36
  • 32 (a)
OneToMany
pqbp-1.2 36
  • 33 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.25007 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3909 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4133 36
  • 44 (a)
OneToOne
Species with no ortholog for PQBP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PQBP1 Gene

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

Paralogs for PQBP1 Gene

No data available for Paralogs for PQBP1 Gene

Variants for PQBP1 Gene

Sequence variations from dbSNP and Humsavar for PQBP1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_036357 A colorectal cancer sample
VAR_071063 Renpenning syndrome 1 (RENS1)
rs741932 -- 48,901,927(+) CCCCA(C/T)AGCGG intron-variant
rs28489209 -- 48,902,333(+) AAGTC(A/T)GACCG intron-variant, reference, synonymous-codon
rs41312106 -- 48,902,573(+) CTGCG(G/T)GAGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PQBP1 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680

Variation tolerance for PQBP1 Gene

Residual Variation Intolerance Score: 22.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PQBP1 Gene

HapMap Linkage Disequilibrium report
PQBP1
Human Gene Mutation Database (HGMD)
PQBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PQBP1 Gene

Disorders for PQBP1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PQBP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PQBP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PQBP1_HUMAN
  • 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. {ECO:0000269 PubMed:14634649, ECO:0000269 PubMed:16740914}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PQBP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PQBP1
genes like me logo Genes that share disorders with PQBP1: view

No data available for Genatlas for PQBP1 Gene

Publications for PQBP1 Gene

  1. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. (PMID: 14634649) Kalscheuer V.M. … Ropers H.-H. (Nat. Genet. 2003) 2 3 4 23 67
  2. 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. (PMID: 15024694) Lenski C. … Schwartz C.E. (Am. J. Hum. Genet. 2004) 2 3 23
  3. Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. (PMID: 19847789) Musante L. … Kalscheuer V.M. (Hum. Mutat. 2010) 3 23
  4. Nature of the nuclear inclusions formed by PQBP1, a protein linked to neurodegenerative polyglutamine diseases. (PMID: 18599155) Nicolaescu E. … Bollen M. (Eur. J. Cell Biol. 2008) 3 23
  5. Polyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stress. (PMID: 16104847) Marubuchi S. … Okazawa H. (J. Neurochem. 2005) 3 23

Products for PQBP1 Gene

Sources for PQBP1 Gene

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