PBX1 (pre-B-cell leukemia homeobox 1)

1997-11-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
PBX1
LOCATION
1q23.3
LOCUSID
5087
FUSION GENES
Show Gene Fusions

DNA/RNA

Atlas Image
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
t(1;19)(q23;p13) /B-ALL --> E2A /PBX1
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

Atlas Image

Bibliography

Pubmed IDLast YearTitleAuthors
86082071996Chromosomal translocations involving the E2A gene in acute lymphoblastic leukemia: clinical features and molecular pathogenesis.Hunger SP et al
19679831990A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL.Kamps MP et al
20785151990Molecular analysis of the t(1;19) breakpoint cluster region in pre-B cell acute lymphoblastic leukemias.Mellentin JD et al
19679821990Chromosomal 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

Gene IDTranscript IDUniprot
ENSG00000185630ENST00000340699F8WA05
ENSG00000185630ENST00000367897P40424
ENSG00000185630ENST00000367897Q53YC7
ENSG00000185630ENST00000420696P40424
ENSG00000185630ENST00000420696A0A024R919
ENSG00000185630ENST00000482110H0YLD4
ENSG00000185630ENST00000485769S4R377
ENSG00000185630ENST00000540236A0A0A0MTI0
ENSG00000185630ENST00000558837H0YLT4
ENSG00000185630ENST00000559240H0YLF5
ENSG00000185630ENST00000559560H0YLM3
ENSG00000185630ENST00000559578H0YKH1
ENSG00000185630ENST00000560641H0YLB0
ENSG00000185630ENST00000612123A0A087X0P4
ENSG00000185630ENST00000627490P40424

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of pluripotent stem cellsREACTOMER-HSA-452723
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376732222024Mesenchymal stem cells overexpressing PBX1 alleviates haemorrhagic shock-induced kidney damage by inhibiting NF-κB activation.0
378891012024Exosomal lncRNA NEAT1 Inhibits NK-Cell Activity to Promote Multiple Myeloma Cell Immune Escape via an EZH2/PBX1 Axis.1
380563502024Regulation of the STAT3 pathway by lupus susceptibility gene Pbx1 in T cells.1
381730162024Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging.0
382409252024Small nucleolar RNA Snora73 promotes psoriasis progression by sponging miR-3074-5p and regulating PBX1 expression.0
383411102024PBX1 as a novel master regulator in cancer: Its regulation, molecular biology, and therapeutic applications.0
385369232024Lupus susceptibility gene Pbx1 controls the development, stability, and function of regulatory T cells via Rtkn2 expression.0
376732222024Mesenchymal stem cells overexpressing PBX1 alleviates haemorrhagic shock-induced kidney damage by inhibiting NF-κB activation.0
378891012024Exosomal lncRNA NEAT1 Inhibits NK-Cell Activity to Promote Multiple Myeloma Cell Immune Escape via an EZH2/PBX1 Axis.1
380563502024Regulation of the STAT3 pathway by lupus susceptibility gene Pbx1 in T cells.1
381730162024Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging.0
382409252024Small nucleolar RNA Snora73 promotes psoriasis progression by sponging miR-3074-5p and regulating PBX1 expression.0
383411102024PBX1 as a novel master regulator in cancer: Its regulation, molecular biology, and therapeutic applications.0
385369232024Lupus susceptibility gene Pbx1 controls the development, stability, and function of regulatory T cells via Rtkn2 expression.0
370545362023PBX1-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/gene-fusions/gene-fusions/gene-fusions-explorer/

Historical Card

1997-10-01 PBX1 (pre-B-cell leukemia homeobox 1) by  Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France