PAX5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1K78, 1MDM
Identifiers
Aliases	PAX5, ALL3, BSAP, paired box 5, PAX-5
External IDs	OMIM: 167414; MGI: 97489; HomoloGene: 56419; GeneCards: PAX5; OMA:PAX5 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9p13.2 Start 36,833,269 bp[1] End 37,034,268 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 B1|4 23.55 cM Start 44,524,757 bp[2] End 44,710,487 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell epithelium of nasopharynx lymph node appendix bone marrow cells spleen mucosa of ileum granulocyte blood tonsil Top expressed in spleen mesenteric lymph nodes blood female urethra substantia nigra lumbar subsegment of spinal cord secondary oocyte zygote granulocyte lumbar spinal ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus fibrillar center cytosol intracellular membrane-bounded organelle nucleoplasm Biological process cell differentiation regulation of transcription, DNA-templated lateral ventricle development human ageing negative regulation of transcription by RNA polymerase II transcription, DNA-templated nervous system development multicellular organism development adult behavior humoral immune response spermatogenesis negative regulation of histone H3-K9 methylation cerebral cortex development animal organ morphogenesis skeletal muscle cell differentiation embryonic cranial skeleton morphogenesis positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II regulation of B cell receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5079 18507 Ensembl ENSG00000196092 ENSMUSG00000014030 UniProt Q02548 Q02650 RefSeq (mRNA) NM_001280547 NM_001280548 NM_001280549 NM_001280550 NM_001280551 NM_001280552 NM_001280553 NM_001280554 NM_001280555 NM_001280556 NM_016734 NM_008782 RefSeq (protein) NP_001267476 NP_001267477 NP_001267478 NP_001267479 NP_001267480 NP_001267481 NP_001267482 NP_001267483 NP_001267484 NP_001267485 NP_057953 NP_001267480.1 NP_032808 Location (UCSC) Chr 9: 36.83 – 37.03 Mb Chr 4: 44.52 – 44.71 Mb PubMed search [3] [4]
Wikidata
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Paired box protein Pax-5 is a protein that in humans is encoded by the PAX5 gene.^[5][6][7]

Function

The PAX5 gene is a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding domain, known as the paired box. The PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. The PAX5 gene encodes the B-cell lineage specific activator protein (BSAP) that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis, therefore, PAX5 gene product may not only play an important role in B-cell differentiation, but also in neural development and spermatogenesis.^[7]

Clinical significance

The PAX5 gene is located in chromosome 9p13 region, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene locus into close proximity of the PAX5 promoters, suggesting that the deregulation of PAX5 gene transcription contributes to the pathogenesis of these lymphomas.^[7]

Up to 97% of the Reed–Sternberg cells of Hodgkin's lymphoma express Pax-5.^[8]

Interactions

PAX5 has been shown to interact with TLE4^[9][10] and Death associated protein 6.^[11]