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PABPN1 (poly(A) binding protein nuclear 1)

Identity

Alias_namesOPMD
PABP2
poly(A)-binding protein, nuclear 1
poly(A) binding protein, nuclear 1
Alias_symbol (synonym)PAB2
HGNC (Hugo) PABPN1
LocusID (NCBI) 8106
Atlas_Id 41629
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 23789397 and ends at 23795394 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PABPN1 (14q11.2) / BCL2L2 (14q11.2)PABPN1 14q11.2 / BCL2L2 14q11.2

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)PABPN1   8565
Cards
Entrez_Gene (NCBI)PABPN1  8106  poly(A) binding protein nuclear 1
AliasesOPMD; PAB2; PABII; PABP-2; 
PABP2
GeneCards (Weizmann)PABPN1
Ensembl hg19 (Hinxton)ENSG00000100836 [Gene_View]  chr14:23789397-23795394 [Contig_View]  PABPN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100836 [Gene_View]  chr14:23789397-23795394 [Contig_View]  PABPN1 [Vega]
ICGC DataPortalENSG00000100836
TCGA cBioPortalPABPN1
AceView (NCBI)PABPN1
Genatlas (Paris)PABPN1
WikiGenes8106
SOURCE (Princeton)PABPN1
Genetics Home Reference (NIH)PABPN1
Genomic and cartography
GoldenPath hg19 (UCSC)PABPN1  -     chr14:23789397-23795394 +  14q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PABPN1  -     14q11.2   [Description]    (hg38-Dec_2013)
EnsemblPABPN1 - 14q11.2 [CytoView hg19]  PABPN1 - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIPABPN1 [Mapview hg19]  PABPN1 [Mapview hg38]
OMIM164300   602279   
Gene and transcription
Genbank (Entrez)AK293633 BC010939 BI830835 BM979311 BX247976
RefSeq transcript (Entrez)NM_004643
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_008239 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)PABPN1
Cluster EST : UnigeneHs.707712 [ NCBI ]
CGAP (NCI)Hs.707712
Alternative Splicing GalleryENSG00000100836
Gene ExpressionPABPN1 [ NCBI-GEO ]   PABPN1 [ EBI - ARRAY_EXPRESS ]   PABPN1 [ SEEK ]   PABPN1 [ MEM ]
Gene Expression Viewer (FireBrowse)PABPN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8106
GTEX Portal (Tissue expression)PABPN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86U42   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86U42  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86U42
Splice isoforms : SwissVarQ86U42
PhosPhoSitePlusQ86U42
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait    RRM_dom   
Domain families : Pfam (Sanger)RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)PABPN1
DMDM Disease mutations8106
Blocks (Seattle)PABPN1
PDB (SRS)3B4D    3B4M    3UCG   
PDB (PDBSum)3B4D    3B4M    3UCG   
PDB (IMB)3B4D    3B4M    3UCG   
PDB (RSDB)3B4D    3B4M    3UCG   
Structural Biology KnowledgeBase3B4D    3B4M    3UCG   
SCOP (Structural Classification of Proteins)3B4D    3B4M    3UCG   
CATH (Classification of proteins structures)3B4D    3B4M    3UCG   
SuperfamilyQ86U42
Human Protein AtlasENSG00000100836
Peptide AtlasQ86U42
HPRD03787
IPIIPI00005792   IPI00414963   IPI00030249   IPI01025694   IPI01025700   
Protein Interaction databases
DIP (DOE-UCLA)Q86U42
IntAct (EBI)Q86U42
FunCoupENSG00000100836
BioGRIDPABPN1
STRING (EMBL)PABPN1
ZODIACPABPN1
Ontologies - Pathways
QuickGOQ86U42
Ontology : AmiGOnucleotide binding  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  termination of RNA polymerase II transcription  RNA processing  muscle contraction  poly(A)+ mRNA export from nucleus  intracellular ribonucleoprotein complex  mRNA 3'-end processing  nuclear inclusion body  poly(A) RNA binding  modification by virus of host mRNA processing  
Ontology : EGO-EBInucleotide binding  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  termination of RNA polymerase II transcription  RNA processing  muscle contraction  poly(A)+ mRNA export from nucleus  intracellular ribonucleoprotein complex  mRNA 3'-end processing  nuclear inclusion body  poly(A) RNA binding  modification by virus of host mRNA processing  
Pathways : BIOCARTAPolyadenylation of mRNA [Genes]   
Pathways : KEGGmRNA surveillance pathway    Influenza A   
NDEx NetworkPABPN1
Atlas of Cancer Signalling NetworkPABPN1
Wikipedia pathwaysPABPN1
Orthology - Evolution
OrthoDB8106
GeneTree (enSembl)ENSG00000100836
Phylogenetic Trees/Animal Genes : TreeFamPABPN1
HOVERGENQ86U42
HOGENOMQ86U42
Homologs : HomoloGenePABPN1
Homology/Alignments : Family Browser (UCSC)PABPN1
Gene fusions - Rearrangements
Fusion : MitelmanPABPN1/BCL2L2 [14q11.2/14q11.2]  
Fusion: TCGAPABPN1 14q11.2 BCL2L2 14q11.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPABPN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PABPN1
dbVarPABPN1
ClinVarPABPN1
1000_GenomesPABPN1 
Exome Variant ServerPABPN1
ExAC (Exome Aggregation Consortium)PABPN1 (select the gene name)
Genetic variants : HAPMAP8106
Genomic Variants (DGV)PABPN1 [DGVbeta]
DECIPHER (Syndromes)14:23789397-23795394  ENSG00000100836
CONAN: Copy Number AnalysisPABPN1 
Mutations
ICGC Data PortalPABPN1 
TCGA Data PortalPABPN1 
Broad Tumor PortalPABPN1
OASIS PortalPABPN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPABPN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPABPN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PABPN1
DgiDB (Drug Gene Interaction Database)PABPN1
DoCM (Curated mutations)PABPN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PABPN1 (select a term)
intoGenPABPN1
Cancer3DPABPN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164300    602279   
Orphanet664   
MedgenPABPN1
Genetic Testing Registry PABPN1
NextProtQ86U42 [Medical]
TSGene8106
GENETestsPABPN1
Huge Navigator PABPN1 [HugePedia]
snp3D : Map Gene to Disease8106
BioCentury BCIQPABPN1
ClinGenPABPN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8106
Chemical/Pharm GKB GenePA32891
Clinical trialPABPN1
Miscellaneous
canSAR (ICR)PABPN1 (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePABPN1
EVEXPABPN1
GoPubMedPABPN1
iHOPPABPN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:46:44 CET 2016

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