PAX5

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]

Paired Box 5

Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage (PubMed:10811620, PubMed:27181361).
Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes (PubMed:10811620, PubMed:27181361).
In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signaling and promotes development to the mature B-cell stage (PubMed:32612238).
Repression of the cohesin-release factor WAPL causes global changes of the chromosomal architecture in pro-B cells to facilitate the generation of a diverse antibody repertoire (PubMed:32612238).
(Microbial infection) Plays an essential role in the maintenance of Epstein-Barr virus genome copy number within the host cell by promoting EBNA1/oriP-dependent binding and transcription (PubMed:31941781).
Participates also in the inhibition of lytic EBV reactivation by modulating viral BZLF1 activity (PubMed:23678172).

Adult behaviorIEA:Ensembl
AgingIEA:Ensembl
Anatomical structure developmentManual Assertion Based On ExperimentIBA:GO_Central
Animal organ morphogenesisManual Assertion Based On ExperimentTAS:ProtInc
Cerebral cortex developmentIEA:Ensembl
Embryonic cranial skeleton morphogenesisIEA:Ensembl
Humoral immune responseManual Assertion Based On ExperimentTAS:ProtInc
Lateral ventricle developmentIEA:Ensembl
Multicellular organism developmentManual Assertion Based On ExperimentTAS:ProtInc
Negative regulation of histone H3-K9 methylationIEA:Ensembl
Negative regulation of transcription by RNA polymerase IIIEA:Ensembl
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Skeletal muscle cell differentiationIEA:Ensembl
SpermatogenesisIEA:UniProtKB-KW
Transcription by RNA polymerase IIManual Assertion Based On ExperimentTAS:ProtInc

Nucleus

Leukemia, acute lymphoblastic, 3 (ALL3):
A subtype of acute leukemia, a cancer of the white blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes.

O-glycosylated.
Phosphorylated by SYK. This phosphorylation plays an important role in the abolition of BLIMP1 repression by PAX5 in order to trigger plasma cell differentiation.