Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PQBP1 (polyglutamine binding protein 1)

Identity

Alias_namesRENS1
MRXS8
SHS
MRX55
MRX2
Sutherland-Haan X-linked mental retardation syndrome
mental retardation, X-linked 55
mental retardation, X-linked 2 (non-dysmorphic)
Other aliasMRXS3
NPW38
HGNC (Hugo) PQBP1
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 2016)
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]  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)
EnsemblPQBP1 - Xp11.23 [CytoView hg19]  PQBP1 - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBIPQBP1 [Mapview hg19]  PQBP1 [Mapview hg38]
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
Cluster EST : UnigeneHs.534384 [ NCBI ]
CGAP (NCI)Hs.534384
Alternative Splicing GalleryENSG00000102103
Gene ExpressionPQBP1 [ NCBI-GEO ]   PQBP1 [ EBI - ARRAY_EXPRESS ]   PQBP1 [ SEEK ]   PQBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PQBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10084
GTEX Portal (Tissue expression)PQBP1
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)WW_dom   
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 (SRS)4BWQ    4BWS    4CDO   
PDB (PDBSum)4BWQ    4BWS    4CDO   
PDB (IMB)4BWQ    4BWS    4CDO   
PDB (RSDB)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 AtlasENSG00000102103
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  DNA binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  cytoplasmic stress granule  nuclear speck  nuclear speck  neuron projection development  ribonucleoprotein complex binding  regulation of RNA splicing  regulation of dendrite morphogenesis  neuronal ribonucleoprotein granule  
Ontology : EGO-EBIalternative mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  DNA binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  cytoplasmic stress granule  nuclear speck  nuclear speck  neuron projection development  ribonucleoprotein complex binding  regulation of RNA splicing  regulation of dendrite morphogenesis  neuronal ribonucleoprotein granule  
Pathways : KEGGSpliceosome   
NDEx NetworkPQBP1
Atlas of Cancer Signalling NetworkPQBP1
Wikipedia pathwaysPQBP1
Orthology - Evolution
OrthoDB10084
GeneTree (enSembl)ENSG00000102103
Phylogenetic Trees/Animal Genes : TreeFamPQBP1
HOVERGENO60828
HOGENOMO60828
Homologs : HomoloGenePQBP1
Homology/Alignments : Family Browser (UCSC)PQBP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPQBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PQBP1
dbVarPQBP1
ClinVarPQBP1
1000_GenomesPQBP1 
Exome Variant ServerPQBP1
ExAC (Exome Aggregation Consortium)PQBP1 (select the gene name)
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300463    309500   
Orphanet12508    12507    12506    12505   
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
Chemical/Protein Interactions : CTD10084
Chemical/Pharm GKB GenePA33693
Clinical trialPQBP1
Miscellaneous
canSAR (ICR)PQBP1 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePQBP1
EVEXPQBP1
GoPubMedPQBP1
iHOPPQBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 18 13:35:10 CEST 2017

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