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homeobox protein PBX1; pre-B-cell leukemia transcription factor 1; homeobox protein PRL (PBX1, PRL)
Function:
- binds the sequence 5'-ATCAATCAA-3'
- acts as a transcriptional activator of PF4 in complex with MEIS1
- converted into a potent transcriptional activator by the (1;19) translocation
- may have a role in steroidogenesis &, subsequently, sexual development & differentiation
- forms a heterodimer with MEIS1 which binds DNA including a cAMP-responsive sequence in CYP17
- also forms heterotrimers with MEIS1 & a number of HOX proteins including HOXA9, HOXD4, HOXD9 & HOXD10
- interacts with PBXIP1
Structure:
- belongs to the TALE/PBX homeobox family
- contains 1 homeobox DNA-binding domain
Compartment: nucleus (probable)
Alternative splicing: named isoforms=2
Expression:
- expressed in all tissues except in cells of the B & T lineage
Pathology:
- chromosomal translocation t(1;19)(q23;p13.3) involving PBX1 with TCF3 is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL)
- E2A-PBX1 transforms cells by constitutively activating transcription of genes regulated by PBX1 or by other members of the PBX protein family
General
homeobox protein
Properties
SIZE: entity length = 430 aa
MW = 47 kD
COMPARTMENT: cell nucleus
MOTIF: Breakpoint {88-89}
alanine-rich region {127-135}
MOTIF: alanine residue (SEVERAL)
homeodomain
SITE: 233-295
Database Correlations
OMIM 176310
UniProt P40424
PFAM correlations
Entrez Gene 5087
Kegg hsa:5087
References
- UniProt :accession P40424
- Entrez Gene :accession 5087
- Atlas of genetics & cytogenetics in oncology & haematology
http://atlasgeneticsoncology.org/genes/PBX1.html