InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PAX5

Summary

InnateDB Protein

IDBP-65392.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PAX5

Protein Name

paired box 5

Synonyms

ALL3; BSAP;

Species

Homo sapiens

Ensembl Protein

ENSP00000367084

InnateDB Gene

IDBG-65386 (PAX5)

Protein Structure

UniProt Annotation

Function

May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene.

Subcellular Localization

Nucleus.

Disease Associations

Note=A chromosomal aberration involving PAX5 is a cause of acute lymphoblastic leukemia. Translocation t(9;18)(p13;q11.2) with ZNF521. Translocation t(9;3)(p13;p14.1) with FOXP1. Translocation t(9;12)(p13;p13) with ETV6.Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065]: 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 lymphonodes. {ECO:0000269PubMed:24013638}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Comments

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:0003677	DNA binding
GO:0005515	protein binding

Biological Process

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