InnateDB Protein
|
IDBP-65400.7
|
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
|
ENSP00000367071
|
InnateDB Gene
|
IDBG-65386 (PAX5)
|
Protein Structure
|
|
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 |
|
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]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001523
Paired domain
IPR009057
Homeodomain-like
|
PFAM |
PF00292
|
PRINTS |
PR00027
|
PIRSF |
|
SMART |
SM00351
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q02548
|
PhosphoSite |
PhosphoSite-Q02548
|
TrEMBL |
C0KTE4
|
UniProt Splice Variant |
|
Entrez Gene |
5079
|
UniGene |
Hs.619100
|
RefSeq |
|
HUGO |
HGNC:8619
|
OMIM |
167414
|
CCDS |
|
HPRD |
01334
|
IMGT |
|
EMBL |
AF080573
AL161781
AL450267
AY463952
AY463953
AY463954
AY463955
AY463956
AY463957
CH471071
DQ841178
DQ845345
DQ845346
EF064717
FJ626409
FJ626421
FJ626422
FJ626423
FJ626424
FJ626425
M96944
|
GenPept |
AAA58397
AAC35286
AAR27590
AAR27591
AAR27592
AAR27593
AAR27594
AAR27595
ABI30005
ABI33104
ABI33105
ABK41900
ACM91592
ACM91604
ACM91605
ACM91606
ACM91607
ACM91608
CAH72137
CAH72740
EAW58294
EAW58295
EAW58296
EAW58297
EAW58298
EAW58299
|
|
|