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PQBP1 (polyglutamine binding protein 1)

Identity

Alias (NCBI)MRX2
MRX55
MRXS3
MRXS8
NPW38
RENS1
SHS
HGNC (Hugo) PQBP1
HGNC Previous nameRENS1
 MRXS8
 SHS
 MRX55
 MRX2
HGNC Previous nameSutherland-Haan X-linked mental retardation syndrome
 mental retardation, X-linked 55
 mental retardation, X-linked 2 (non-dysmorphic)
LocusID (NCBI) 10084
Atlas_Id 72165
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 48897912 and ends at 48903143 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DHDDS (1p36.11) / PQBP1 (Xp11.23)GUSBP11 (22q11.23) / PQBP1 (Xp11.23)PQBP1 (Xp11.23) / PQBP1 (Xp11.23)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PQBP1   9330
Cards
Entrez_Gene (NCBI)PQBP1  10084  polyglutamine binding protein 1
AliasesMRX2; MRX55; MRXS3; MRXS8; 
NPW38; RENS1; SHS
GeneCards (Weizmann)PQBP1
Ensembl hg19 (Hinxton)ENSG00000102103 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102103 [Gene_View]  ENSG00000102103 [Sequence]  chrX:48897912-48903143 [Contig_View]  PQBP1 [Vega]
ICGC DataPortalENSG00000102103
TCGA cBioPortalPQBP1
AceView (NCBI)PQBP1
Genatlas (Paris)PQBP1
WikiGenes10084
SOURCE (Princeton)PQBP1
Genetics Home Reference (NIH)PQBP1
Genomic and cartography
GoldenPath hg38 (UCSC)PQBP1  -     chrX:48897912-48903143 +  Xp11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PQBP1  -     Xp11.23   [Description]    (hg19-Feb_2009)
GoldenPathPQBP1 - Xp11.23 [CytoView hg19]  PQBP1 - Xp11.23 [CytoView hg38]
ImmunoBaseENSG00000102103
genome Data Viewer NCBIPQBP1 [Mapview hg19]  
OMIM300463   309500   
Gene and transcription
Genbank (Entrez)AB016533 AB041833 AB041834 AB041835 AB041836
RefSeq transcript (Entrez)NM_001032381 NM_001032382 NM_001032383 NM_001032384 NM_001032385 NM_001167989 NM_001167990 NM_001167992 NM_005710 NM_144494 NM_144495
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PQBP1
Alternative Splicing GalleryENSG00000102103
Gene ExpressionPQBP1 [ NCBI-GEO ]   PQBP1 [ EBI - ARRAY_EXPRESS ]   PQBP1 [ SEEK ]   PQBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PQBP1 [ Firebrowse - Broad ]
GenevisibleExpression of PQBP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10084
GTEX Portal (Tissue expression)PQBP1
Human Protein AtlasENSG00000102103-PQBP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60828   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60828  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60828
Splice isoforms : SwissVarO60828
PhosPhoSitePlusO60828
Domaine pattern : Prosite (Expaxy)WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)Thioredoxin-like_sf    WW_dom    WW_dom_sf   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)WW (SM00456)  
Conserved Domain (NCBI)PQBP1
DMDM Disease mutations10084
Blocks (Seattle)PQBP1
PDB (RSDB)4BWQ    4BWS    4CDO   
PDB Europe4BWQ    4BWS    4CDO   
PDB (PDBSum)4BWQ    4BWS    4CDO   
PDB (IMB)4BWQ    4BWS    4CDO   
Structural Biology KnowledgeBase4BWQ    4BWS    4CDO   
SCOP (Structural Classification of Proteins)4BWQ    4BWS    4CDO   
CATH (Classification of proteins structures)4BWQ    4BWS    4CDO   
SuperfamilyO60828
Human Protein Atlas [tissue]ENSG00000102103-PQBP1 [tissue]
Peptide AtlasO60828
HPRD02354
IPIIPI00024698   IPI00654698   IPI00030216   IPI00386483   IPI00607824   IPI00386509   IPI00607789   IPI00654565   IPI00607805   IPI00954553   IPI00641377   IPI00644888   
Protein Interaction databases
DIP (DOE-UCLA)O60828
IntAct (EBI)O60828
FunCoupENSG00000102103
BioGRIDPQBP1
STRING (EMBL)PQBP1
ZODIACPQBP1
Ontologies - Pathways
QuickGOO60828
Ontology : AmiGOalternative mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  activation of innate immune response  positive regulation of defense response to virus by host  DNA binding  double-stranded DNA binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  cytosol  regulation of transcription, DNA-templated  cytoplasmic stress granule  nuclear speck  nuclear speck  neuron projection development  positive regulation of type I interferon production  ribonucleoprotein complex binding  regulation of RNA splicing  innate immune response  regulation of dendrite morphogenesis  defense response to virus  cellular response to exogenous dsRNA  neuronal ribonucleoprotein granule  positive regulation of nucleic acid-templated transcription  
Ontology : EGO-EBIalternative mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  activation of innate immune response  positive regulation of defense response to virus by host  DNA binding  double-stranded DNA binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  cytosol  regulation of transcription, DNA-templated  cytoplasmic stress granule  nuclear speck  nuclear speck  neuron projection development  positive regulation of type I interferon production  ribonucleoprotein complex binding  regulation of RNA splicing  innate immune response  regulation of dendrite morphogenesis  defense response to virus  cellular response to exogenous dsRNA  neuronal ribonucleoprotein granule  positive regulation of nucleic acid-templated transcription  
NDEx NetworkPQBP1
Atlas of Cancer Signalling NetworkPQBP1
Wikipedia pathwaysPQBP1
Orthology - Evolution
OrthoDB10084
GeneTree (enSembl)ENSG00000102103
Phylogenetic Trees/Animal Genes : TreeFamPQBP1
HOGENOMO60828
Homologs : HomoloGenePQBP1
Homology/Alignments : Family Browser (UCSC)PQBP1
Gene fusions - Rearrangements
Fusion : QuiverPQBP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPQBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PQBP1
dbVarPQBP1
ClinVarPQBP1
1000_GenomesPQBP1 
Exome Variant ServerPQBP1
GNOMAD BrowserENSG00000102103
Varsome BrowserPQBP1
Genetic variants : HAPMAP10084
Genomic Variants (DGV)PQBP1 [DGVbeta]
DECIPHERPQBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPQBP1 
Mutations
ICGC Data PortalPQBP1 
TCGA Data PortalPQBP1 
Broad Tumor PortalPQBP1
OASIS PortalPQBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPQBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPQBP1
Mutations and Diseases : HGMDPQBP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch PQBP1
DgiDB (Drug Gene Interaction Database)PQBP1
DoCM (Curated mutations)PQBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PQBP1 (select a term)
intoGenPQBP1
Cancer3DPQBP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300463    309500   
Orphanet12508    12507    12506    12505   
DisGeNETPQBP1
MedgenPQBP1
Genetic Testing Registry PQBP1
NextProtO60828 [Medical]
TSGene10084
GENETestsPQBP1
Target ValidationPQBP1
Huge Navigator PQBP1 [HugePedia]
snp3D : Map Gene to Disease10084
BioCentury BCIQPQBP1
ClinGenPQBP1
Clinical trials, drugs, therapy
Protein Interactions : CTD10084
Pharm GKB GenePA33693
Clinical trialPQBP1
Miscellaneous
canSAR (ICR)PQBP1 (select the gene name)
HarmonizomePQBP1
DataMed IndexPQBP1
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePQBP1
EVEXPQBP1
GoPubMedPQBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Aug 22 19:31:53 CEST 2020

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