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

Identity

Other namesOBF1 (Oct binding factor 1)
BOB1
OCA-B
Hugo POU2AF1
Location 11q23.1
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
HugoPOU2AF1
GDBPOU2AF1
Entrez_GenePOU2AF1  5450  POU class 2 associating factor 1
Cards
AtlasOBF94
GeneCardsPOU2AF1
EnsemblPOU2AF1 [Search_View]   ENSG00000110777 [Gene_View]
GenatlasPOU2AF1
GeneLynxPOU2AF1
eGenomePOU2AF1
euGene5450
Genomic and cartography
GoldenPathPOU2AF1  -  11q23.1   chr11:110728190-110755367 -  11q23.1   [Description]    (hg18-Mar_2006)
EnsemblPOU2AF1 - 11q23.1 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGenePOU2AF1
Gene and transcription
GenbankAK313573 [ ENTREZ ]
GenbankBC032549 [ ENTREZ ]
GenbankCR599556 [ ENTREZ ]
GenbankDQ890869 [ ENTREZ ]
GenbankEU176491 [ ENTREZ ]
RefSeqNM_006235 [ SRS ]    NM_006235 [ ENTREZ ]
RefSeqAC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeqAC_000143 [ SRS ]    AC_000143 [ ENTREZ ]
RefSeqNC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeqNT_033899 [ SRS ]    NT_033899 [ ENTREZ ]
RefSeqNW_001838042 [ SRS ]    NW_001838042 [ ENTREZ ]
RefSeqNW_925173 [ SRS ]    NW_925173 [ ENTREZ ]
AceViewPOU2AF1 AceView - NCBI
UnigeneHs.654525 [ SRS ]    Hs.654525 [ NCBI ]     HS654525 [ spliceNest ]
Fast-db13714 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ16633 [ SRS]    Q16633 [ EXPASY ]     Q16633 [ INTERPRO ]
InterproIPR015389 PD-C2-AF1 [ SRS ]    IPR015389 PD-C2-AF1 [ EBI ]
CluSTrQ16633
PfamPF09310 PD-C2-AF1 [ SRS ]    PF09310 PD-C2-AF1 [ Sanger ]    pfam09310 [ NCBI-CDD ]
BlocksQ16633
PDBPOU2AF1 [ SRS ]    POU2AF1 [ PdbSum ],   POU2AF1 [ IMB ]   POU2AF1 [ RSDB ]
HPRD03126
Protein Interaction databases
DIPQ16633
IntActQ16633
Polymorphism : SNP, mutations, diseases
OMIM601206    [ map ]   
GENECLINICS601206
SNPPOU2AF1 [dbSNP-NCBI]  
SNPNM_006235 [SNP-NCI]  
SNPPOU2AF1 [GeneSNPs - Utah]  POU2AF1] [HGBASE - SRS]
HAPMAPPOU2AF1 [HAPMAP]  
COSMICPOU2AF1 [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDPOU2AF1
General knowledge
Family BrowserPOU2AF1 [UCSC Family Browser]
SOURCENM_006235
SMDHs.654525
SAGEHs.654525
GOtranscription coactivator activity [Amigo]  transcription coactivator activity
GOprotein binding [Amigo]  protein binding
GOnucleus [Amigo]  nucleus
GOtranscription [Amigo]  transcription
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOtranscription from RNA polymerase II promoter [Amigo]  transcription from RNA polymerase II promoter
GOhumoral immune response [Amigo]  humoral immune response
PubGenePOU2AF1
TreeFamPOU2AF1
CTD5450 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
ProbePOU2AF1 Related clones (RZPD - Berlin)
PubMed
PubMed28 Pubmed reference(s) in LocusLink

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jul 14 17:48:00 2008


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