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MGP002205

UniProt Annotations

Entry Information
Gene Namepre-B-cell leukemia homeobox 1
Protein Entry
UniProt IDQ53YC7
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=PBX1a; IsoId=P40424-1; Sequence=Displayed; Name=PBX1b; IsoId=P40424-2; Sequence=VSP_002271, VSP_002272; Name=3; IsoId=P40424-3; Sequence=VSP_044499; Note=No experimental confirmation available.;
DiseaseNote=A chromosomal aberration involving PBX1 is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(1;19)(q23;p13.3) with TCF3. TCF3-PBX1 transforms cells by constitutively activating transcription of genes regulated by PBX1 or by other members of the PBX protein family.
FunctionBinds 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 and, subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Probably in complex with MEIS2, is involved in transcriptional regulation by KLF4. Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B. Together with NKX2-5, it is required for spleen development through a mechanism that involves CDKN2B repression (By similarity). {ECO:0000250}.
InteractionQ12948:FOXC1; NbExp=4; IntAct=EBI-301611, EBI-1175253; O14770-4:MEIS2; NbExp=6; IntAct=EBI-301611, EBI-8025850; P31314:TLX1; NbExp=2; IntAct=EBI-6390251, EBI-2820655;
Sequence CautionSequence=AAA36764.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the TALE/PBX homeobox family. {ECO:0000305}.
SimilarityContains 1 homeobox DNA-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00108}.
Subcellular LocationNucleus {ECO:0000255|PROSITE- ProRule:PRU00108}.
SubunitForms a heterodimer with MEIS1 which binds DNA including a cAMP-responsive sequence in CYP17. Also forms heterotrimers with MEIS1 and a number of HOX proteins including HOXA9, HOXD4, HOXD9 and HOXD10. Interacts with PBXIP1 and TLX1. Isoform PBX1a interacts with MEIS2 isoform 4, SP1, SP3 and KLF4. Isoform PBX1b is part of a PDX1:PBX1b:MEIS2b complex; PBX1b recruits Meis2B to the complex. {ECO:0000269|PubMed:10052460, ECO:0000269|PubMed:10825160, ECO:0000269|PubMed:12609849, ECO:0000269|PubMed:19559479, ECO:0000269|PubMed:20553494, ECO:0000269|PubMed:21746878}.
Tissue SpecificityExpressed in all tissues except in cells of the B and T lineage.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PBX1ID2.html";
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