TAG for PAX5

Gene content

Symbol

PAX5 ( by HUGO)

Name

Paired Box 5

Category

Oncogene

Alias

Paired Box 5
BSAP
B-Cell Lineage Specific Activator
ALL3
Paired Box Gene 5 (B-Cell Lineage Specific Activator Protein)
Paired Box Gene 5 (B-Cell Lineage Specific Activator)
Paired Box Homeotic Gene 5
Paired Box Protein Pax-5
Paired Domain Gene 5
Transcription Factor PAX 5
B-Cell-Specific Transcription Factor

Cytogenetic band

NCBI: 9p13 Ensembl: 9p13.2

Protein information

PAX5_HUMAN

Size: 391 amino acids

Mass: 42149 Da

Subunit: Interacts with DAXX (By similarity). Binds DNA as a monomer. Binds TLE4. Interacts with ETS1, altering its DNA-binding properties Developmental stage: Expressed at early B-cell differentiation, in the developing CNS and in adult testis 2 PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for PAX5: 1K78 (3D) [IMAGE] 1MDM (3D) [IMAGE]

Function:

UniProtKB/Swiss-Prot Summary: PAX5_HUMAN, Q02548 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

Similarity:

Contains 1 paired domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001523	Paired_dom	Paired box protein, N-terminal	Domain
	IPR009057	Homeodomain-like	Homeodomain-like	Domain
	IPR011991	WHTH_DNA-bd_dom	Winged helix repressor DNA-binding	Domain
Blocks	IPB001523	Paired box protein	Paired box protein, N-terminal

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	humoral immune response	TAS	GOA	10524629
	multicellular organismal development	TAS	GOA	10524629
	organ morphogenesis	TAS	GOA	10524622
	transcription from RNA polymerase II promoter	TAS	GOA	10524622

Disorder & Mutation
Source	Disease
SWISS-PROT	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
SWISS-PROT	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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

PAX5 cross reference