PBX1 (pre-B-cell leukemia homeobox 1)
1997-11-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
DNA/RNA
c-PBX1at 1q23 in normal cells: PAC 953E11 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Transcription
1.8 kb; alternate splicing -->PBX1a and PBX1b, different only
in the C-Term
Proteins
Description
338 (PBX1b) and 430 (PBX1a) amino acids; 37 kDa; homeodomain
(to binds to DNA)
Expression
ubiquitously expressed, except in B and T lineages
Localisation
nuclear (probable)
Function
associated to HOX proteins, can bind to specific DNA sequences (5
ATCAATCAA 3), for transcription regulation
Homology
PBX2 and PBX3 have nearly identical homeodomains; homeobox
proteins; homologues of the fly protein extradenticle
Implicated in
Entity name
Disease
pre B ALL mainly; CD19+, CD10+, CD9+
Prognosis
controversial data; associated with poor prognostic features
Cytogenetics
two different forms: - the balanced t(1;19); - the unbalanced
form, with 2 normal chromosomes 1, a der(19), and a normal chromosome19:
additional anomalies: in half of the cases; they are various
Hybrid gene
5 E2A from 19p13 fused to 3 PBX1; breakpoints are clustered
on both genes
Fusion protein
N-term transcriptional activation domains from E2A fused to the
Hox cooperative motif and homeodomain of C-term PBX1
Oncogenesis
potent transcriptional activator; pleiotropic transforming activity
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8608207 | 1996 | Chromosomal translocations involving the E2A gene in acute lymphoblastic leukemia: clinical features and molecular pathogenesis. | Hunger SP et al |
| 1967983 | 1990 | A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL. | Kamps MP et al |
| 2078515 | 1990 | Molecular analysis of the t(1;19) breakpoint cluster region in pre-B cell acute lymphoblastic leukemias. | Mellentin JD et al |
| 1967982 | 1990 | Chromosomal translocation t(1;19) results in synthesis of a homeobox fusion mRNA that codes for a potential chimeric transcription factor. | Nourse J et al |
Other Information
Locus ID:
NCBI: 5087
MIM: 176310
HGNC: 8632
Ensembl: ENSG00000185630
Variants:
dbSNP: 5087
ClinVar: 5087
TCGA: ENSG00000185630
COSMIC: PBX1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37673222 | 2024 | Mesenchymal stem cells overexpressing PBX1 alleviates haemorrhagic shock-induced kidney damage by inhibiting NF-κB activation. | 0 |
| 37889101 | 2024 | Exosomal lncRNA NEAT1 Inhibits NK-Cell Activity to Promote Multiple Myeloma Cell Immune Escape via an EZH2/PBX1 Axis. | 1 |
| 38056350 | 2024 | Regulation of the STAT3 pathway by lupus susceptibility gene Pbx1 in T cells. | 1 |
| 38173016 | 2024 | Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging. | 0 |
| 38240925 | 2024 | Small nucleolar RNA Snora73 promotes psoriasis progression by sponging miR-3074-5p and regulating PBX1 expression. | 0 |
| 38341110 | 2024 | PBX1 as a novel master regulator in cancer: Its regulation, molecular biology, and therapeutic applications. | 0 |
| 38536923 | 2024 | Lupus susceptibility gene Pbx1 controls the development, stability, and function of regulatory T cells via Rtkn2 expression. | 0 |
| 37673222 | 2024 | Mesenchymal stem cells overexpressing PBX1 alleviates haemorrhagic shock-induced kidney damage by inhibiting NF-κB activation. | 0 |
| 37889101 | 2024 | Exosomal lncRNA NEAT1 Inhibits NK-Cell Activity to Promote Multiple Myeloma Cell Immune Escape via an EZH2/PBX1 Axis. | 1 |
| 38056350 | 2024 | Regulation of the STAT3 pathway by lupus susceptibility gene Pbx1 in T cells. | 1 |
| 38173016 | 2024 | Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging. | 0 |
| 38240925 | 2024 | Small nucleolar RNA Snora73 promotes psoriasis progression by sponging miR-3074-5p and regulating PBX1 expression. | 0 |
| 38341110 | 2024 | PBX1 as a novel master regulator in cancer: Its regulation, molecular biology, and therapeutic applications. | 0 |
| 38536923 | 2024 | Lupus susceptibility gene Pbx1 controls the development, stability, and function of regulatory T cells via Rtkn2 expression. | 0 |
| 37054536 | 2023 | PBX1-promoted SFRP4 transcription inhibits cell proliferation and epithelial-mesenchymal transition in endometrial carcinoma. | 1 |
Citation
Jean-Loup Huret
PBX1 (pre-B-cell leukemia homeobox 1)
Atlas Genet Cytogenet Oncol Haematol. 1997-11-01
Online version: http://atlasgeneticsoncology.org/gene/2
Historical Card
1997-10-01 PBX1 (pre-B-cell leukemia homeobox 1) by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
