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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
Location 11q23.1
Location_base_pair Starts at 111224985 and ends at 111250000 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]  POU2AF1 [Vega]
AceView (NCBI)POU2AF1
Genatlas (Paris)POU2AF1
euGene (Indiana)5450
SOURCE (Stanford)NM_006235
Gene Expression (Array Express) ENSG00000110777
Genomic and cartography
GoldenPath (UCSC)POU2AF1  -  11q23.1   chr11:111224985-111250000 -  11q23.1   [Description]    (hg19-Feb_2009)
EnsemblPOU2AF1 - 11q23.1 [CytoView]
Mapping of homologs : NCBIPOU2AF1 [Mapview]
OMIM601206   
Gene and transcription
Gene : Genbank (Entrez)AK313573 BC032549 CR599556 DQ890869 EU176491
Reference sequence (RefSeq transcript) :SRSNM_006235
Reference transcript : EntrezNM_006235
RefSeq genomic : SRSAC_000054 AC_000143 NC_000011 NT_033899 NW_001838042 NW_925173
RefSeq genomic : EntrezAC_000054 AC_000143 NC_000011 NT_033899 NW_001838042 NW_925173
Consensus coding sequences : CCDS NCBIPOU2AF1
Cluster EST : UnigeneHs.654525 [ SRS ] Hs.654525 [ NCBI ]
Alternative Splicing : Fast-db (Paris)13714
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ16633 (SRS) Q16633 (Expasy) Q16633 (Uniprot)
With graphics : InterProQ16633
Splice isoforms : VarSplice FASTAQ16633(VarSplice FASTA)
Domains : Interpro (SRS)PD-C2-AF1   
Domains : Interpro (EBI)PD-C2-AF1   
Related proteins : CluSTrQ16633
Domain families : Pfam SRSPD-C2-AF1 (PF09310)   
Domain families : Pfam SangerPD-C2-AF1 (PF09310)   
Domain families : Pfam NCBIpfam09310   
Blocks (Seattle)Q16633
Crystal structure of protein : PDB SRS1CQT   
Crystal structure of protein : PDBSum1CQT   
Crystal structure of protein : IMB1CQT   
Crystal structure of protein : PDB RSDB1CQT   
Human Protein AtlasENSG00000110777
HPRD03126
Protein Interaction databases
DIP (DOE-UCLA)Q16633
IntAct (EBI)Q16633
FunCoupENSG00000110777
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIPOU2AF1
SNP : GeneSNP UtahPOU2AF1
SNP : HGBasePOU2AF1
Genetic variants : HAPMAPPOU2AF1
Cancer Gene: CensusPOU2AF1 
Somatic Mutations in Cancer : COSMICPOU2AF1 
Translocation Breakpoints in Cancer : TICdbPOU2AF1 
Mutations and Diseases : HGMDPOU2AF1
Hereditary diseases : OMIM601206   
Hereditary diseases : GENETests601206   
Diseases : Genetic AssociationPOU2AF1
General knowledge
Homologs : HomoloGenePOU2AF1
Homology/Alignments : Family Browser UCSCPOU2AF1
Phylogenetic Trees/Animal Genes : TreeFamPOU2AF1
Chemical/Protein Interactions : CTD5450
Keywords Ontology : AmiGODNA binding  transcription cofactor activity  transcription coactivator activity  protein binding  nucleus  transcription from RNA polymerase II promoter  humoral immune response  regulation of transcription  
Keywords Ontology : EGO-EBIDNA binding  transcription cofactor activity  transcription coactivator activity  protein binding  nucleus  transcription from RNA polymerase II promoter  humoral immune response  regulation of transcription  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesPOU2AF1 Related clones (RZPD - Berlin)
Literature
PubMed33 Pubmed reference(s) in Entrez
PubGenePOU2AF1

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

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indexed on : Tue Aug 31 20:04:27 CEST 2010

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