Homo sapiens Gene: PAX5 | |||||||||||||||||||||||||
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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 |
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
paired box 5
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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] |
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Gene Information | |||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||
Genomic Location | Chromosome 9:36833275-37034185 | ||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||
Band | p13.2 | ||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||
Species
Mus musculus
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Gene ID
Gene Order
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Pathways | |||||||||||||||||||||||||
NETPATH |
ID pathway
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REACTOME | |||||||||||||||||||||||||
KEGG | |||||||||||||||||||||||||
INOH | |||||||||||||||||||||||||
PID NCI |
C-MYB transcription factor network
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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 | |||||||||||||||||||||||||