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
LOCATION
1q23.3
LOCUSID
FUSION GENES

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
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

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

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
129230562003Structure of HoxA9 and Pbx1 bound to DNA: Hox hexapeptide and DNA recognition anterior to posterior.78
180935412007Interleukin-10 expression in macrophages during phagocytosis of apoptotic cells is mediated by homeodomain proteins Pbx1 and Prep-1.78
221254922011PBX1 genomic pioneer function drives ERα signaling underlying progression in breast cancer.70
119124942002Pbx1 inactivation disrupts pancreas development and in Ipf1-deficient mice promotes diabetes mellitus.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
195220132009KLF4 and PBX1 directly regulate NANOG expression in human embryonic stem cells.40
193464962009Gfi1 integrates progenitor versus granulocytic transcriptional programming.31
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.30
155074492004E2A-PBX1 interacts directly with the KIX domain of CBP/p300 in the induction of proliferation in primary hematopoietic cells.29

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/pbx1

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