PBX1

PBX1 is a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family.

pre-B-cell leukemia homeobox 1

Transcription factor which binds the DNA sequence 5'-TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8 (PubMed:9191052).
Binds to the DNA sequence 5'-TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein (PubMed:9191052).
Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 (PubMed:8327485, PubMed:7791786).
Acts as a transcriptional activator of PF4 in complex with MEIS1 (PubMed:12609849).
Also activates transcription of SOX3 in complex with MEIS1 by binding to the 5'-TGATTGAC-3' consensus sequence (By similarity).
In natural killer cells, binds to the NFIL3 promoter and acts as a transcriptional activator of NFIL3, promoting natural killer cell development (By similarity).
Plays a role in the cAMP-dependent regulation of CYP17A1 gene expression via its cAMP-regulatory sequence (CRS1) (By similarity).
Probably in complex with MEIS2, involved in transcriptional regulation by KLF4 (PubMed:21746878).
Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B (By similarity).
Together with NKX2-5, required for spleen development through a mechanism that involves CDKN2B repression (By similarity).
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.

Adrenal gland developmentIEA:Ensembl
Animal organ morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Anterior/posterior pattern specificationIEA:Ensembl
Brain developmentManual Assertion Based On ExperimentIBA:GO_Central
Branching involved in ureteric bud morphogenesisIEA:Ensembl
Embryonic hemopoiesisIEA:Ensembl
Embryonic limb morphogenesisIEA:Ensembl
Embryonic organ developmentManual Assertion Based On ExperimentIBA:GO_Central
Embryonic skeletal system developmentIEA:Ensembl
Eye developmentManual Assertion Based On ExperimentIBA:GO_Central
Natural killer cell differentiationISS:UniProtKB
Negative regulation of DNA-binding transcription factor activityIDA:UniProtKB
Negative regulation of neuron differentiationIEA:Ensembl
Neuron developmentManual Assertion Based On ExperimentIBA:GO_Central
Positive regulation of cell population proliferationIEA:Ensembl
Positive regulation of G2/M transition of mitotic cell cycleIEA:Ensembl
Positive regulation of transcription by RNA polymerase IIISS:UniProtKB
Proximal/distal pattern formationIEA:Ensembl
Regulation of ossificationIEA:Ensembl
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Sex differentiationIEA:UniProtKB-KW
Spleen developmentIEA:Ensembl
Steroid biosynthetic processIEA:UniProtKB-KW
Thymus developmentIEA:Ensembl

Nucleus

Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED):
An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay.