Version 5.4
Homo sapiens Gene: PAX5
Summary
InnateDB Gene IDBG-65386.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAX5
Gene Name paired box 5
Synonyms ALL3; BSAP
Species Homo sapiens
Ensembl Gene ENSG00000196092
Encoded Proteins
IDBP-65390
paired box 5
IDBP-65392
paired box 5
IDBP-65394
paired box 5
IDBP-65398
paired box 5
IDBP-65400
paired box 5
IDBP-369337
paired box 5
IDBP-369338
paired box 5
IDBP-476364
paired box 5
IDBP-473704
paired box 5
IDBP-481985
paired box 5
IDBP-474462
paired box 5
IDBP-474548
paired box 5
IDBP-484241
paired box 5
IDBP-482224
paired box 5
IDBP-476792
paired box 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes 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 motif, known as the paired box. PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, 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 into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternatively spliced transcript variants encoding different isoforms have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
This gene encodes 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 motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, 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 into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:36833275-37034185
Strand Reverse strand
Band p13.2
Transcripts
ENST00000358127 ENSP00000350844
ENST00000377853 ENSP00000367084
ENST00000377852 ENSP00000367083
ENST00000377847 ENSP00000367078
ENST00000377840 ENSP00000367071
ENST00000446742 ENSP00000404687
ENST00000414447 ENSP00000412188
ENST00000523241 ENSP00000429637
ENST00000520154 ENSP00000429291
ENST00000520281 ENSP00000430773
ENST00000522003 ENSP00000429359
ENST00000523145 ENSP00000429197
ENST00000523493 ENSP00000431038
ENST00000524340 ENSP00000429404
ENST00000522932 ENSP00000428670
ENST00000520083
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 18 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 14 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006959 humoral immune response
GO:0007275 multicellular organismal development
GO:0007283 spermatogenesis
GO:0007399 nervous system development
GO:0009887 organ morphogenesis
GO:0035914 skeletal muscle cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051573 negative regulation of histone H3-K9 methylation
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000014030
View Gene Order
Pathways
NETPATH
NetPath_5
ID pathway
REACTOME
KEGG
INOH
PID NCI
cmyb_pathway
C-MYB transcription factor network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.619100
RefSeq NM_001280547 NM_001280548 NM_001280549 NM_001280550 NM_001280551 NM_001280552 NM_001280553 NM_001280554 NM_001280555 NM_001280556 NM_016734 XM_005251481
HUGO
OMIM
CCDS CCDS65039 CCDS65040 CCDS65041 CCDS65042 CCDS65043 CCDS65044 CCDS65045 CCDS65046 CCDS65047 CCDS65048 CCDS6607
HPRD 01334
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca