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FLASH GENE

Symbol

POU2AF1

contributors: mct - updated : 17-11-2015

HGNC name	POU domain, class 2, associating factor 1
HGNC id	9211

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	11q23.1      Physical location : 111.222.982 - 111.250.157
Synonym name	OCT-binding factor 1
	B-cell-specific coactivator OBF-1
Synonym symbol(s)	BOB1, OBF1, OCAB

DNA

TYPE	functioning gene
STRUCTURE	27.18 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   cAMP
motif
text structure	a CAMP regulatory element binding CREB/ATP binding site

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006235 5 - 3032 NP_006226 - 256 - 2005 15672409

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     highly Lymphoid/Immune lymph node       highly   spleen       highly   tonsils       highly Reproductive male system prostate     moderately Respiratory lung       moderately Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal domain critical for DNA binding and interaction with POU specific and POU homeo (helix-turn-helix) domains of OCTs
	a C terminal domain mainly responsible for transactivation

mono polymer

complex

HOMOLOGY

interspecies

homolog to murine Pou2af1

Homologene

FAMILY

POU2AF1 family

CATEGORY

immunity/defense , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	B-cell specific coactivator, involved in the response of B cells to antigens and required for the formation of germinal center and for normal transcription and v-(D)-J recombination of a subset of immunoglobulin Kappa genes
	stabilizes POU dimer-DNA interactions
	a clamp effect on the binding of POU2F1 monomer when it seems compromised
	stimulates PORE activity
	lymphoid-specific transcriptional coactivator that associates with the transcription factors POU2F1 or POU2F2 on the conserved octamer element present in the promoters of several ubiquitous and lymphoid-specific genes
	transcriptional coactivator essential at several stages of B-cell development, critical for T helper cell function
	regulates the balance of TH1 versus TH2 mediated immunity
	novel role for POU2AF1 anf IKZF3 in controlling the transcription and nuclear organization of genes involved in pre-BCR function
	B lymphocyte-specific transcription factor which coactivates POU2F1 and POU2F2 on B cell specific promoters
	its tight regulation expression in early B cells is essential to allow efficient B lymphocyte differentiation
	with POU2F2, are B-cell associated transcription factors expressed in a subset of patients with acute myeloid leukemia (AML)
	POU2AF1 together with POU2F1/POU2F2, binds to octamer sites in promoters and enhancers to activate transcription of immunoglobulin (Ig) genes
	B cell-specific transcriptional factor that coactivates octamer-binding transcriptional factors POU2F1, and POU2F2 on B cell-specific promoters
	POU2F1 and POU2AF1 are selectively required for the in vivo generation of CD4(+) memory T cells

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	transcription activating factor

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	specifically with POU2F1 (OTF1) and POU2F2,fixing the Oct protein to the DNA
	SIAHs leading to the destabilisation and degradation of POU2AF1 by the proteosome pathway
	SPIB is a direct target gene critically regulated by POU2AF1
	important function in IGH 3prime enhancer function and strongly favor an enhancer mechanism involving looping and facilitated factor recruitment rather than a tracking mechanism
	ZFPM1 expression is directly or indirectly dependent on the B cell-specific coactivator POU2AF1 and it is modulated during B cell development: expression is observed in early but not in late stages of B cell development

cell & other

REGULATION

activated by

upregulated in B cells either by bacterial lipolysaccharide or CD40 ligand and IL4

induced by

costimulation in cells

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       with LAZ3/BCL6 in a B-cell leukemia cell line (Karpas 231) tumoral fusion       with BTG4 in t(11;13)(q23;q12) in chronic lymphocytic leukemia

Susceptibility

to biliary cirrhosis

Variant & Polymorphism SNP	rs4938534 is significantly associated to biliary cirrhosis

Candidate gene
Marker	may be helpful in the differential diagnosis of classical Hodgkin's lymphoma (cHL) and primary mediastinal B-cell lymphoma (PMBCL) (the highest positive predictive value for PMBCL were POU2AF1)
Therapy target

ANIMAL & CELL MODELS

Bob1(-/-) mice showed imbalanced immune responses, resulting in increased susceptibility to Leishmania major infection