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POU2AF1 (POU domain, class 2, associating factor 1)

Written1998-03Sylvie Galiègue-Zouitina
U.124 INSERM, I.R.C.L., Place de Verdun, 59045 LILLE Cedex, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesPOU domain class 2
Alias_symbol (synonym)OBF1
Other aliasOBF1 (Oct binding factor 1)
BOB1
OCA-B
HGNC (Hugo) POU2AF1
LocusID (NCBI) 5450
Atlas_Id 94
Location 11q23.1  [Link to chromosome band 11q23]
Location_base_pair Starts at 111352256 and ends at 111379432 bp from pter ( according to hg19-Feb_2009)  [Mapping POU2AF1.png]
Local_order telomeric to ATM
 
  POU2AF1 (11q23) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BCL6 (3q27.3) / POU2AF1 (11q23.1)MADD (11p11.2) / POU2AF1 (11q23.1)POU2AF1 (11q23.1) / BCL6 (3q27.3)
POU2AF1 (11q23.1) / FKBP5 (6p21.31)

DNA/RNA

 
  DNA Diagram
Description spans on a 30 kb genomic fragment; five exons; large fifth exon, with many 3' -UTR repetitive elements, two pyrimidine rich regions (a duplicated CT- rich region and a [CCTT]n tetranucleotide tandem repeat) and a 282 nucleotides long Alu element
Transcription 3.4 kb mRNA; coding sequence: 770 bp, spanning from the end of exon 1 to the beginning of exon 5

Protein

Description 256 amino acids; 27.4 kDa; proline rich protein with no recognizable domain or motifs
Expression constitutively expressed in B-cells and inducible in T-cells
Localisation nuclear
Function B-cell specific transcriptional coactivator: involved in the transcription of immunoglobulin genes through recruitment to the highly conserved octamer site of immunoglobulin promoters, mediated by either Oct-1 or Oct-2 transcription factor; forms a ternary complex on DNA together with either Oct-1 or Oct-2 transcription factor; is essential for the response of B-cells to antigens and is required for the formation of germinal centres no homology to known proteins.

Implicated in

Note
  
Entity t(3;11)(q27;q23.1)/ NHL --> BCL6 - POU2AF1
Disease NHL
Cytogenetics found in complex caryotypes
Hybrid/Mutated Gene 5' BOB1- 3' BCL6 and 5' BCL6 - 3'BOB1, leading to two fusion transcripts
Abnormal Protein no fusion protein, but promoter exchange between both partner genes
  

Bibliography

A B-cell coactivator of octamer-binding transcription factors.
Gstaiger M, Knoepfel L, Georgiev O, Schaffner W, Hovens CM
Nature. 1995 ; 373 (6512) : 360-362.
PMID 7779176
 
Cloning, functional characterization, and mechanism of action of the B-cell-specific transcriptional coactivator OCA-B.
Luo Y, Roeder RG
Molecular and cellular biology. 1995 ; 15 (8) : 4115-4124.
PMID 7623806
 
B-cell-specific coactivator OBF-1/OCA-B/Bob1 required for immune response and germinal centre formation.
Schubart DB, Rolink A, Kosco-Vilbois MH, Botteri F, Matthias P
Nature. 1996 ; 383 (6600) : 538-542.
PMID 8849727
 
OBF-1, a novel B cell-specific coactivator that stimulates immunoglobulin promoter activity through association with octamer-binding proteins.
Strubin M, Newell JW, Matthias P
Cell. 1995 ; 80 (3) : 497-506.
PMID 7859290
 
Heterogeneity of breakpoints at the transcriptional co-activator gene, BOB-1, in lymphoproliferative disease.
Yuille MA, Galiegue-Zouitina S, Hiorns LR, Jadayel D, De Schouwer PJ, Catovsky D, Dyer MJ, Kerckaert JP
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (9) : 1492-1496.
PMID 8751468
 
Inducible expression and phosphorylation of coactivator BOB.1/OBF.1 in T cells.
Zwilling S, Dieckmann A, Pfisterer P, Angel P, Wirth T
Science (New York, N.Y.). 1997 ; 277 (5323) : 221-225.
PMID 9211847
 

Citation

This paper should be referenced as such :
Gali
POU2AF1 (POU domain, class 2, associating factor 1)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):43-44.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/OBFID94.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  3q27 rearrangements (BCL6) in non Hodgkin lymphoma::t(3;Var)(q27;Var) in non Hodgkin lymphoma
t(3;11)(q27;q23) POU2AF1/BCL6
t(3;14)(q27;q32) IGH/BCL6::t(2;3)(p12;q27) IGK/BCL6::t(3;22)(q27;q11) IGL/BCL6


External links

Nomenclature
HGNC (Hugo)POU2AF1   9211
Cards
AtlasOBFID94
Entrez_Gene (NCBI)POU2AF1  5450  POU class 2 associating factor 1
AliasesBOB1; OBF-1; OBF1; OCAB
GeneCards (Weizmann)POU2AF1
Ensembl hg19 (Hinxton)ENSG00000110777 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110777 [Gene_View]  chr11:111352256-111379432 [Contig_View]  POU2AF1 [Vega]
ICGC DataPortalENSG00000110777
TCGA cBioPortalPOU2AF1
AceView (NCBI)POU2AF1
Genatlas (Paris)POU2AF1
WikiGenes5450
SOURCE (Princeton)POU2AF1
Genetics Home Reference (NIH)POU2AF1
Genomic and cartography
GoldenPath hg38 (UCSC)POU2AF1  -     chr11:111352256-111379432 -  11q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POU2AF1  -     11q23.1   [Description]    (hg19-Feb_2009)
EnsemblPOU2AF1 - 11q23.1 [CytoView hg19]  POU2AF1 - 11q23.1 [CytoView hg38]
Mapping of homologs : NCBIPOU2AF1 [Mapview hg19]  POU2AF1 [Mapview hg38]
OMIM601206   
Gene and transcription
Genbank (Entrez)AK313573 BC032549 DQ890869 EU176491 X83504
RefSeq transcript (Entrez)NM_006235
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POU2AF1
Cluster EST : UnigeneHs.654525 [ NCBI ]
CGAP (NCI)Hs.654525
Alternative Splicing GalleryENSG00000110777
Gene ExpressionPOU2AF1 [ NCBI-GEO ]   POU2AF1 [ EBI - ARRAY_EXPRESS ]   POU2AF1 [ SEEK ]   POU2AF1 [ MEM ]
Gene Expression Viewer (FireBrowse)POU2AF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5450
GTEX Portal (Tissue expression)POU2AF1
Human Protein AtlasENSG00000110777-POU2AF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16633   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16633  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16633
Splice isoforms : SwissVarQ16633
PhosPhoSitePlusQ16633
Domains : Interpro (EBI)PD-C2-AF1   
Domain families : Pfam (Sanger)PD-C2-AF1 (PF09310)   
Domain families : Pfam (NCBI)pfam09310   
Conserved Domain (NCBI)POU2AF1
DMDM Disease mutations5450
Blocks (Seattle)POU2AF1
PDB (SRS)1CQT   
PDB (PDBSum)1CQT   
PDB (IMB)1CQT   
PDB (RSDB)1CQT   
Structural Biology KnowledgeBase1CQT   
SCOP (Structural Classification of Proteins)1CQT   
CATH (Classification of proteins structures)1CQT   
SuperfamilyQ16633
Human Protein Atlas [tissue]ENSG00000110777-POU2AF1 [tissue]
Peptide AtlasQ16633
HPRD03126
IPIIPI00293727   IPI00984491   
Protein Interaction databases
DIP (DOE-UCLA)Q16633
IntAct (EBI)Q16633
FunCoupENSG00000110777
BioGRIDPOU2AF1
STRING (EMBL)POU2AF1
ZODIACPOU2AF1
Ontologies - Pathways
QuickGOQ16633
Ontology : AmiGORNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II transcription coactivator activity  transcription cofactor activity  transcription coactivator activity  protein binding  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  humoral immune response  positive regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription factor complex  RNA polymerase II transcription factor complex  
Ontology : EGO-EBIRNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II transcription coactivator activity  transcription cofactor activity  transcription coactivator activity  protein binding  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  humoral immune response  positive regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription factor complex  RNA polymerase II transcription factor complex  
NDEx NetworkPOU2AF1
Atlas of Cancer Signalling NetworkPOU2AF1
Wikipedia pathwaysPOU2AF1
Orthology - Evolution
OrthoDB5450
GeneTree (enSembl)ENSG00000110777
Phylogenetic Trees/Animal Genes : TreeFamPOU2AF1
HOVERGENQ16633
HOGENOMQ16633
Homologs : HomoloGenePOU2AF1
Homology/Alignments : Family Browser (UCSC)POU2AF1
Gene fusions - Rearrangements
Fusion : MitelmanPOU2AF1/BCL6 [11q23.1/3q27.3]  
Tumor Fusion PortalPOU2AF1
Fusion : TICdbPOU2AF1 [11q23.1]  -  BCL6 [3q27.3]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOU2AF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POU2AF1
dbVarPOU2AF1
ClinVarPOU2AF1
1000_GenomesPOU2AF1 
Exome Variant ServerPOU2AF1
ExAC (Exome Aggregation Consortium)ENSG00000110777
GNOMAD BrowserENSG00000110777
Genetic variants : HAPMAP5450
Genomic Variants (DGV)POU2AF1 [DGVbeta]
DECIPHERPOU2AF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOU2AF1 
Mutations
ICGC Data PortalPOU2AF1 
TCGA Data PortalPOU2AF1 
Broad Tumor PortalPOU2AF1
OASIS PortalPOU2AF1 [ Somatic mutations - Copy number]
Cancer Gene: CensusPOU2AF1 
Somatic Mutations in Cancer : COSMICPOU2AF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOU2AF1
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
BioMutasearch POU2AF1
DgiDB (Drug Gene Interaction Database)POU2AF1
DoCM (Curated mutations)POU2AF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POU2AF1 (select a term)
intoGenPOU2AF1
NCG5 (London)POU2AF1
Cancer3DPOU2AF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601206   
Orphanet874   
DisGeNETPOU2AF1
MedgenPOU2AF1
Genetic Testing Registry POU2AF1
NextProtQ16633 [Medical]
TSGene5450
GENETestsPOU2AF1
Target ValidationPOU2AF1
Huge Navigator POU2AF1 [HugePedia]
snp3D : Map Gene to Disease5450
BioCentury BCIQPOU2AF1
ClinGenPOU2AF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5450
Chemical/Pharm GKB GenePA33535
Clinical trialPOU2AF1
Miscellaneous
canSAR (ICR)POU2AF1 (select the gene name)
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=POU2AF1
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOU2AF1
EVEXPOU2AF1
GoPubMedPOU2AF1
iHOPPOU2AF1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 21 14:58:14 CET 2017

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