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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
  • Polyglutamine-Binding Protein 1 3
  • PQBP-1 4
  • MRX55 3
  • MRXS3 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
  • MRXS3

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 cognitive disability. 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 1 and Microcephaly. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and ribonucleoprotein complex binding.

UniProtKB/Swiss-Prot for PQBP1 Gene

  • Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:23512658, PubMed:20410308). 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 (PubMed:10198427). May be involved in ATXN1 mutant-induced cell death (PubMed:12062018). The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018). Involved in the assembly of cytoplasmic stress granule, possibly by participating to the transport of neuronal RNA granules (PubMed:21933836). Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437). Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with MB21D1/cGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437).

Gene Wiki entry for PQBP1 Gene

Additional gene information for PQBP1 Gene

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

Genomics for PQBP1 Gene

GeneHancer (GH) Regulatory Elements for PQBP1 Gene

Promoters and enhancers for PQBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI048896 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 567.6 +0.1 116 3.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B PQBP1 TIMM17B FTSJ1 ENSG00000204620 ENSG00000270012 ZNF182 HDAC6 RBM3 CCDC22 PLP2
GH0XI048916 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.3 +21.9 21853 5.6 HNRNPUL1 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A ZNF2 ZBTB7B POLR2B ZNF213 PIM2 ENSG00000204620 FTSJ1 ENSG00000270012 RBM3 PQBP1 CCDC22 ZNF182 PLP2 OTUD5
GH0XI048933 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.9 +40.6 40588 9.7 HDGF FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 IRF4 ENSG00000279155 PQBP1 WAS OTUD5 SLC35A2 TIMM17B PIM2 TBC1D25 ENSG00000204620 ENSG00000228343
GH0XI048573 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.7 -322.9 -322926 3.4 HDGF PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 ENSG00000204620 RBM3 ZNF182 ENSG00000228343 FTSJ1 ZNF81 PRICKLE3 PQBP1 ENSG00000270012 HDAC6
GH0XI048785 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE dbSUPER 18.2 -110.7 -110699 3.5 HDGF PKNOX1 ATF1 YBX1 TCF12 POLR2B ZNF766 CBX5 GATA2 NCOA1 GATA1 ENSG00000204620 ENSG00000270012 ZNF81 FTSJ1 PQBP1 CCDC22 ZNF182 RBM3 HDAC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PQBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PQBP1 gene promoter:

Genomic Locations for PQBP1 Gene

Genomic Locations for PQBP1 Gene
chrX:48,897,912-48,903,145
(GRCh38/hg38)
Size:
5,234 bases
Orientation:
Plus strand
chrX:48,755,195-48,760,422
(GRCh37/hg19)

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:
    • C9JQA1
    • 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 (PubMed:10332029, PubMed:10873650, PubMed:19303059, PubMed:24781215). Interaction with ATXN1 correlates positively with the length of the polyglutamine tract (PubMed:12062018). Interacts with RNA polymerase II large subunit in a phosphorylation-dependent manner (PubMed:12062018). Forms a ternary complex with ATXN1 mutant and phosphorylated RNA polymerase II (PubMed:12062018). Interacts (via C-terminus) with TXNL4A and CD2BP2 (PubMed:10873650, PubMed:19303059, PubMed:24781215). Interacts (via WW domain) with ATN1 and SF3B1, and may interact with additional splice factors (PubMed:23512658, PubMed:20410308). Interacts (via WW domain) with WBP11; Leading to reduce interaction between PQBP1 and TXNL4A (PubMed:23512658, PubMed:20410308, PubMed:27314904). Interacts with CAPRIN1 (PubMed:21933836). Interacts with DDX1 (PubMed:21933836). Interacts with SFPQ (PubMed:21933836). Interacts with KHSRP (PubMed:21933836).

    Three dimensional structures from OCA and Proteopedia for PQBP1 Gene

    Alternative splice isoforms for PQBP1 Gene

neXtProt entry for PQBP1 Gene

Post-translational modifications for PQBP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PQBP1 Gene

Domains & Families for PQBP1 Gene

Gene Families for PQBP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.
genes like me logo Genes that share domains with PQBP1: view

Function for PQBP1 Gene

Molecular function for PQBP1 Gene

UniProtKB/Swiss-Prot Function:
Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:23512658, PubMed:20410308). 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 (PubMed:10198427). May be involved in ATXN1 mutant-induced cell death (PubMed:12062018). The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018). Involved in the assembly of cytoplasmic stress granule, possibly by participating to the transport of neuronal RNA granules (PubMed:21933836). Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437). Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with MB21D1/cGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437).

Gene Ontology (GO) - Molecular Function for PQBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9875212
GO:0003690 double-stranded DNA binding IDA 26046437
GO:0003713 transcription coactivator activity TAS 10198427
GO:0005515 protein binding IPI 16713569
GO:0043021 ribonucleoprotein complex binding IDA 23512658
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

miRNA for PQBP1 Gene

Clone Products

  • Addgene plasmids for PQBP1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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. Cytoplasmic granule. Note=Colocalizes with SRSF2 in nuclear speckles (By similarity). Colocalized with POU3F2 (PubMed:10332029). Colocalized with ATXN1 in nuclear inclusion bodies (PubMed:12062018). Localizes to cytoplasmic stress granules (PubMed:21933836). {ECO:0000250 UniProtKB:Q91VJ5, ECO:0000269 PubMed:10332029, ECO:0000269 PubMed:12062018, ECO:0000269 PubMed:21933836}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PQBP1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PQBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10198427
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0010494 cytoplasmic stress granule IEA --
genes like me logo Genes that share ontologies with PQBP1: view

Pathways & Interactions for PQBP1 Gene

genes like me logo Genes that share pathways with PQBP1: view

Pathways by source for PQBP1 Gene

Gene Ontology (GO) - Biological Process for PQBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IMP 23512658
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0002218 activation of innate immune response IDA 26046437
GO:0002230 positive regulation of defense response to virus by host IDA 26046437
GO:0002376 immune system process IEA --
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:

Clone Products

  • Addgene plasmids for PQBP1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PQBP1 Gene



Protein tissue co-expression partners for PQBP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PQBP1 Gene:

PQBP1

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.

Evidence on tissue expression from TISSUES for PQBP1 Gene

  • Nervous system(4.7)
  • Lung(4.6)
  • Adrenal gland(4.3)
  • Intestine(4.3)
  • Kidney(4.3)
  • Liver(4.3)
  • Skin(2.5)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PQBP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PQBP1: view

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
chimpanzee
(Pan troglodytes)
Mammalia PQBP1 33 34
  • 99.87 (n)
cow
(Bos Taurus)
Mammalia PQBP1 33 34
  • 89.86 (n)
dog
(Canis familiaris)
Mammalia PQBP1 33 34
  • 87.8 (n)
mouse
(Mus musculus)
Mammalia Pqbp1 33 16 34
  • 84.16 (n)
rat
(Rattus norvegicus)
Mammalia Pqbp1 33
  • 84.03 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PQBP1 34
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PQBP1 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11126 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25563 33
zebrafish
(Danio rerio)
Actinopterygii pqbp1 33 34
  • 61.43 (n)
pqbp1l 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6852 33
worm
(Caenorhabditis elegans)
Secernentea pqbp-1.1 33 34
  • 45.27 (n)
pqbp-1.2 34
  • 33 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.25007 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4133 34
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3909 33
Species where no ortholog for PQBP1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1006576758 uncertain-significance, Renpenning syndrome 1 48,898,296(+) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs121917899 pathogenic, Renpenning syndrome 1, Renpenning syndrome 1 (RENS1) [MIM:309500] 48,901,944(+) A/G coding_sequence_variant, missense_variant
rs149688357 likely-benign, Renpenning syndrome 1 48,902,739(+) C/T coding_sequence_variant, synonymous_variant
rs150603792 likely-benign, Renpenning syndrome 1 48,898,423(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs398124212 benign, likely-benign, not specified, Renpenning syndrome 1 48,902,014(+) G/A coding_sequence_variant, intron_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv528292 CNV gain 19592680
esv32909 CNV gain+loss 17666407

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)

Additional Variant Information for PQBP1 Gene

Human Gene Mutation Database (HGMD)
PQBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PQBP1

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

Disorders for PQBP1 Gene

MalaCards: The human disease database

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

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, ECO:0000269 PubMed:20410308, ECO:0000269 PubMed:21315190, ECO:0000269 PubMed:23512658, ECO:0000269 PubMed:26046437}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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 VM … Ropers HH (Nature genetics 2003) 2 3 4 22 58
  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 CE (American journal of human genetics 2004) 2 3 22 58
  3. Polar amino acid-rich sequences bind to polyglutamine tracts. (PMID: 9875212) Imafuku I … Okazawa H (Biochemical and biophysical research communications 1998) 2 3 4 58
  4. Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD. (PMID: 27314904) Mizuguchi M … Okazawa H (FEBS letters 2016) 3 4 58
  5. PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1. (PMID: 26046437) Yoh SM … Chanda SK (Cell 2015) 3 4 58

Products for PQBP1 Gene

Sources for PQBP1 Gene

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