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FLASH GENE
Symbol PAX5 contributors: mct - updated : 27-08-2015
HGNC name paired box 5
HGNC id 8619
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
    Physical map
    LOC392309 9 similar to Olfactory receptor 13J1 LOC392310 9 similar to Phosphoglycerate mutase 1 (Phosphoglycerate mutase isozyme B) (PGAM-B) (BPG-dependent PGAM 1) OR2S2 9p13.3-p13.1 olfactory receptor, family 2, subfamily S, member 2 LOC389719 9 hypothetical gene supported by M24070; NM_004559 LOC392311 9 similar to seven transmembrane helix receptor OR13C7P 9 olfactory receptor, family 13, subfamily C, member 7 pseudogene LOC392313 9 similar to olfactory receptor RECK 9p13-p12 reversion-inducing-cysteine-rich protein with kazal motifs C9orf19 9p12-p13 chromosome 9 open reading frame 19 CCIN 9p13-p12 calicin CLTA 9p13-p12 clathrin, light polypeptide (Lca) GNE 9p13-p12 clathrin, light polypeptide (Lca) LOC392314 9 similar to high mobility group protein homolog HMG4 RNF38 9p13-p12 ring finger protein 38 MRPS21P4 9p13.1 mitochondrial ribosomal protein S21 pseudogene 4 MELK 9p11.2 maternal embryonic leucine zipper kinase PAX5 9p13 paired box gene 5 (B-cell lineage specific activator protein) LOC389720 9 LOC389720 LOC392315 9 similar to 60S ribosomal protein L32 FLJ22611 GRHPR 9q11.2-q12 glyoxylate reductase/hydroxypyruvate reductase ZBTB5 9p13.1 zinc finger and BTB domain containing 5 LOC158237 9p13.1 similar to potassium channel tetramerisation domain containing 9 PAF53 9p13.1 RNA polymerase I associated factor 53 FBXO10 9p12 F-box only protein 10 LOC389721 9 similar to RAB1B, member RAS oncogene family; small GTP-binding protein FRMPD1 9p13.1 FERM and PDZ domain containing 1 FLJ31455 9p13.1 hypothetical protein FLJ31455
    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)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 8909 - 391 - 2013 23796789
    7 - 8554 - 220 - 2013 23796789
    9 - 8743 - 283 - 2013 23796789
    8 - 8609 - 291 - 2013 23796789
    8 - 8693 - 319 - 2013 23796789
    9 - 8780 - 348 - 2013 23796789
    7 - 8590 - 295 - 2013 23796789
    8 - 8677 - 324 - 2013 23796789
    8 - 8720 - 328 - 2013 23796789
    9 - 8807 - 357 - 2013 23796789
    9 - 8822 - 362 - 2013 23796789
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunetonsils    
    Reproductivemale systemtestis   
     male systemprostate   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB 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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    cancerhemopathy 
    possibility that acute lymphoblastic leukemia with PAX5-PML can be treated with arsenic trioxide
    ANIMAL & CELL MODELS