Homo sapiens Protein: PBX1
Summary
InnateDB Protein IDBP-104451.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PBX1
Protein Name pre-B-cell leukemia homeobox 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000356872
InnateDB Gene IDBG-104447 (PBX1)
Protein Structure
UniProt Annotation
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 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}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.
Disease Associations Note=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.
Tissue Specificity Expressed in all tissues except in cells of the B and T lineage.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 63 experimentally validated interaction(s) in this database.
They are also associated with 26 interaction(s) predicted by orthology.
Experimentally validated
Total 63 [view]
Protein-Protein 48 [view]
Protein-DNA 15 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 26 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006694 steroid biosynthetic process
GO:0007548 sex differentiation
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR001356 Homeobox domain
IPR005542 PBX
IPR009057 Homeodomain-like
PFAM PF00046
PF03792
PRINTS
PIRSF
SMART SM00389
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P40424
PhosphoSite PhosphoSite-P40424
TrEMBL Q53YC7
UniProt Splice Variant
Entrez Gene 5087
UniGene Hs.720898
RefSeq NP_001191890
HUGO HGNC:8632
OMIM 176310
CCDS CCDS55654
HPRD 08889
IMGT
EMBL AF313396 AF313397 AF313398 AF313399 AF313400 AF313401 AF313402 AF313403 AF313404 AK299673 AL357568 AL359255 AL390119 AL391001 BC101578 BT006705 CH471067 M31522 M86546
GenPept AAA36764 AAA60031 AAG30941 AAI01579 AAP35351 BAG61583 CAH73499 CAI14854 CAI14908 EAW90741