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

Identity

Other namesOBF1 (Oct binding factor 1)
BOB1
OCA-B
HGNC (Hugo) POU2AF1
LocusID (NCBI) 5450
Location 11q23.1
Location_base_pair Starts at 111222981 and ends at 111250157 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order telomeric to ATM
 
  POU2AF1 (11q23) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact

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

Entity t(3;11)(q27;q23.1)/ NHL --> BCL6 - OBF1
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
  

External links

Nomenclature
HGNC (Hugo)POU2AF1   9211
Entrez_Gene (NCBI)POU2AF1  5450  POU class 2 associating factor 1
Cards
AtlasOBF94
GeneCards (Weizmann)POU2AF1
Ensembl (Hinxton)ENSG00000110777 [Gene_View]  chr11:111222981-111250157 [Contig_View]  POU2AF1 [Vega]
AceView (NCBI)POU2AF1
Genatlas (Paris)POU2AF1
euGene (Indiana)5450
SOURCE (Stanford)NM_006235
Genomic and cartography
GoldenPath (UCSC)POU2AF1  -  11q23.1   chr11:111222981-111250157 -  11q23.1   [Description]    (hg19-Feb_2009)
EnsemblPOU2AF1 - 11q23.1 [CytoView]
Mapping of homologs : NCBIPOU2AF1 [Mapview]
OMIM601206   
Gene and transcription
Genbank (Entrez)AK313573 BC032549 DQ890869 EU176491 X83504
RefSeq transcript (SRS)NM_006235
RefSeq transcript (Entrez)NM_006235
RefSeq genomic (SRS)AC_000143 NC_000011 NT_033899 NW_001838042
RefSeq genomic (Entrez)AC_000143 NC_000011 NT_033899 NW_001838042
Consensus coding sequences : CCDS (NCBI)POU2AF1
Cluster EST : UnigeneHs.654525 [ SRS ] Hs.654525 [ NCBI ]
Alternative Splicing : Fast-db (Paris)13714
Alternative Splicing GalleryENSG00000110777
Gene ExpressionPOU2AF1 [ NCBI-GEO ]   POU2AF1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16633 (SRS) Q16633 (Uniprot)
With graphics : InterProQ16633
Splice isoforms : SwissVarQ16633(Swissvar)
Domains : Interpro (SRS)PD-C2-AF1   
Domains : Interpro (EBI)PD-C2-AF1   
Related proteins : CluSTrQ16633
Domain families : Pfam (SRS)PD-C2-AF1 (PF09310)   
Domain families : Pfam (Sanger)PD-C2-AF1 (PF09310)   
Domain families : Pfam (NCBI)pfam09310   
Blocks (Seattle)Q16633
PDB (SRS)1CQT   
PDB (PDBSum)1CQT   
PDB (IMB)1CQT   
PDB (RSDB)1CQT   
Human Protein AtlasENSG00000110777
HPRD03126
IPIIPI00293727   IPI00984491   
Protein Interaction databases
DIP (DOE-UCLA)Q16633
IntAct (EBI)Q16633
FunCoupENSG00000110777
REACTOMEPOU2AF1
BioGRIDPOU2AF1
InParanoidQ16633
Interologous Interaction database Q16633
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)POU2AF1
SNP (GeneSNP Utah)POU2AF1
SNP : HGBasePOU2AF1
Genetic variants : HAPMAPPOU2AF1
Cancer Gene: CensusPOU2AF1 
Somatic Mutations in Cancer : COSMICPOU2AF1 
CONAN: Copy Number AnalysisPOU2AF1 
Mutations and Diseases : HGMDPOU2AF1
OMIM601206   
GENETests601206   
Disease Genetic AssociationPOU2AF1
Huge Navigator POU2AF1 [HugePedia]  POU2AF1 [HugeCancerGEM]
Genomic VariantsPOU2AF1
snp3D : Map Gene to Disease5450
General knowledge
Homologs : HomoloGenePOU2AF1
Homology/Alignments : Family Browser (UCSC)POU2AF1
Phylogenetic Trees/Animal Genes : TreeFamPOU2AF1
Chemical/Protein Interactions : CTD5450
Chemical/Pharm GKB GenePA33535
Clinical trialPOU2AF1
Cancer Resource (Charite)ENSG00000110777
Ontology : AmiGODNA binding  transcription cofactor activity  transcription coactivator activity  nucleus  regulation of transcription, DNA-dependent  transcription from RNA polymerase II promoter  humoral immune response  
Ontology : EGO-EBIDNA binding  transcription cofactor activity  transcription coactivator activity  nucleus  regulation of transcription, DNA-dependent  transcription from RNA polymerase II promoter  humoral immune response  
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesPOU2AF1 Related clones (RZPD - Berlin)
Litterature
PubMed40 Pubmed reference(s) in Entrez
PubGenePOU2AF1
iHOPPOU2AF1

Bibliography

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
 
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
 
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
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written03-1998Sylvie Galiègue-Zouitina

Citation

This paper should be referenced as such :
Galiègue-Zouitina S . POU2AF1 (POU domain, class 2, associating factor 1). Atlas Genet Cytogenet Oncol Haematol. March 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/OBF94.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37408/1/03-1998-OBF94.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 14:59:19 CEST 2012

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