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FLASH GENE

Symbol

PAX5

contributors: mct - updated : 27-08-2015

HGNC name	paired box 5
HGNC id	8619

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	9p13.2      Physical location : 36.838.530 - 37.034.476
Synonym name	B-cell lineage specific activator
	paired box gene 5 (B-cell lineage specific activator protein)
	transcription factor PAX 5
Synonym symbol(s)	BSAP, EVI60

DNA

TYPE	functioning gene
STRUCTURE	201.20 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	use of differentially expressed PAX5 isoforms to identify novel B cell subsets in the form of PAX5 tissue signatures (PMID: 23796789)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016734 10 - 8909 NP_057953 - 391 - 2013 23796789 NM_001280551 7 - 8554 NP_001267480 - 220 - 2013 23796789 NM_001280556 9 - 8743 NP_001267485 - 283 - 2013 23796789 NM_001280555 8 - 8609 NP_001267484 - 291 - 2013 23796789 NM_001280553 8 - 8693 NP_001267482 - 319 - 2013 23796789 NM_001280554 9 - 8780 NP_001267483 - 348 - 2013 23796789 NM_001280550 7 - 8590 NP_001267479 - 295 - 2013 23796789 NM_001280549 8 - 8677 NP_001267478 - 324 - 2013 23796789 NM_001280552 8 - 8720 NP_001267481 - 328 - 2013 23796789 NM_001280547 9 - 8807 NP_001267476 - 357 - 2013 23796789 NM_001280548 9 - 8822 NP_001267477 - 362 - 2013 23796789

EXPRESSION

Type

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 Lymphoid/Immune tonsils         Reproductive male system testis         male system prostate       Respiratory lung

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 Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	developing central nervous system

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a paired DNA binding domain with a truncated homeo domain
	two structurally distinct subdomains, N terminal (NTS) and C terminal subdomains
	a truncated helix-turn helix (homeo) DNA binding domain
	an intermediary octapeptide motif
	a nuclear localization signal (NLS) in the central domain

HOMOLOGY

interspecies	homolog to C.elegans F14F3.1
	homolog to murine Pax5

Homologene

FAMILY

paired box family of transcription factor

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	required for initiating B cell lineage and maintain,
	neural development, spermatogenesis
	playing an essential role for B-cell differentiation
	involved in several chromosome translocations that fuse its N-terminal paired DNA-binding domain with the C-terminal regulatory sequences of ETV6, FOXP1, ZNF521 or ELN
	not only crucial for B-cell lymphopoiesis but also for the development of B-cell malignancies
	most sensitive and reliable immunohistochemical marker for B-cell malignancies and lack of PAX5 expression correlates with the presence of marked plasma cell differentiation
	master regulator of B-cell development, involved in several leukemia-associated rearrangements, resulting in fusion genes encoding chimeric proteins that antagonize PAX5 transcriptional activity
	transcription factor required for B-cell development and maintenance
	B lineage-specific regulator that controls the B lineage-specific gene expression program and immunoglobulin gene V(H) to DJ(H) recombination
	regulates its target genes by recruiting chromatin-modifying proteins in committed B cells
	potent transcription factor that plays a key role in B-cell development and cancerous processes
	controls the identity and development of B cells by repressing lineage-inappropriate genes and activating B-cell-specific genes
	controls B-cell identity and function by regulating distinct target genes in early and late B lymphopoiesis
	could positively regulate osteoblastic differentiation, in addition to promoting bone formation and remodeling, as one of the transcription factors essential for controlling osteoblastogenesis independently of RUNX2
	alternatively spliced transcription factor that regulates B cell development and activation
	both EBF1 and PAX5 are required for B lineage commitment by repressing distinct and common determinants of alternative cell fates
	implicated in a new syndrome of susceptibility to pre-B cell neoplasia
	required for normal B cell development and is frequently mutated or deleted in B cell precursor acute lymphoblastic leukemia (B-ALL)

CELLULAR PROCESS	nucleotide, transcription
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding (truncated homeodomain)

RNA

small molecule

protein	binding the C terminal domain of importin alpha 1 (KPNA2) by PAX 5 central domain
	ATP9A is a PAX5 target gene
	EP300 interacts with the C terminus of PAX5 and acetylates multiple lysine residues within the paired box DNA binding domain of PAX5
	PAX5 binds to the promoter and enhancer of CD19 gene and remodels chromatin structure at the promoter
	PAXIP1 is recruited to a PAX5 binding site to promote histone H3 lysine 4 (H3K4) methylation
	have been implicated in regulating the expression of AICDA (regulates AICDA transcription through its C-terminal-activation domain)
	is one of the major SOX11 direct targets
	PAX5 controls MCOLN2 expression
	PAX5 was found to be an epigenetically inactivated tumour suppressor that inhibits non-small cell lung cancer (NSCLC) proliferation and metastasis, through down-regulating the CTNNB1 pathway and up-regulating GADD45G expression

cell & other

REGULATION

Other	allele specific regulated during B-lymphopoiesis
	DAXX affects PAX5 roles as an activator or a repressor in B cells

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       with IGH in t(9;14)(p13;q32) with diffuse large-cell lymphoma expressing Ki-1 (CD30) antigen, in the related splenic marginal zone lymphoma and in lymphoplasmacytic lymphoma tumoral somatic mutation       in acute lymphoblastic leukaemia tumoral   deletion     in acute lymphoblastic leukaemia tumoral fusion       with ETV6 in t(9;12) (q11;p13) in acute lymphoblastic leukemia tumoral fusion       fused with the elastin (ELN) by t(7;9)(q11;p13) translocation in B-cell acute lymphoblastic leukemia (B-ALL) tumoral   translocation     recurrent t(9;15)(p13;q24) in two cases of childhood ALL, with fusion of PAX5 to PML (putative PAX5-PML fusion gene encodes a chimaeric protein that retains the paired domain) tumoral fusion       with ASXL, in t(9;20)(p11-13;q11) in patients with acute lymphoblastic leukemia tumoral fusion       with FOXP1 in t(3;9)(p13;p13) recurrent in both childhood and in adult B-ALL tumoral fusion       PAX5-AUTS2 is a recurrent fusion gene (t(7;9)(q11.2;p13.2)) in pediatric B-cell precursor acute lymphoblastic leukemia

Susceptibility

to B cell leukemia

Variant & Polymorphism other	p.Gly183Ser retains sufficient transcriptional regulatory activity for grossly normal B cell development in the presence of one wild-type copy of PAX5, but it does not have sufficient activity to prevent leukemogenesis after loss of the wild-type PAX5 allele

Candidate gene
Marker	most sensitive and reliable immunohistochemical marker for B-cell malignancies
Therapy target
	System Type Disorder Pubmed cancer hemopathy   possibility that acute lymphoblastic leukemia with PAX5-PML can be treated with arsenic trioxide

ANIMAL & CELL MODELS