Homo sapiens Protein: PBX1 | |||||||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001356
Homeobox domain IPR005542 PBX IPR009057 Homeodomain-like |
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PFAM |
PF00046
PF03792 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00389
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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 | ||||||||||||||||||||||