InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PBX1

Summary

InnateDB Protein

IDBP-389460.4

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

ENSP00000405890

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:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0043565	sequence-specific DNA binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0001655	urogenital system development
GO:0001658	branching involved in ureteric bud morphogenesis
GO:0006351	transcription, DNA-templated
GO:0006694	steroid biosynthetic process
GO:0007548	sex differentiation
GO:0008284	positive regulation of cell proliferation
GO:0009887	organ morphogenesis
GO:0009952	anterior/posterior pattern specification
GO:0009954	proximal/distal pattern formation
GO:0010971	positive regulation of G2/M transition of mitotic cell cycle
GO:0030278	regulation of ossification
GO:0030325	adrenal gland development
GO:0030326	embryonic limb morphogenesis
GO:0035162	embryonic hemopoiesis
GO:0042127	regulation of cell proliferation
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045665	negative regulation of neuron differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048536	spleen development
GO:0048538	thymus development
GO:0048568	embryonic organ development
GO:0048706	embryonic skeletal system development