PBX1
Description
The PBX1 (PBX homeobox 1) is a protein-coding gene located on chromosome 1.
PBX1, also known as Pre-B-cell leukemia transcription factor 1, is a protein encoded by the PBX1 gene in humans. Its counterpart in Drosophila is called extradenticle, which influences embryonic development. PBX1 has been implicated in bone formation and skeletal patterning in mice. It interacts with various proteins including HOXB1, HOXB7, MEIS1, and Prep1. Extradenticle, the Drosophila homolog of PBX1, is a homeodomain transcription factor expressed during embryogenesis. It plays a crucial role in morphological changes and development. Reduced levels of extradenticle lead to segmental transformations, while complete removal causes developmental alterations due to the failure of non-extradenticle protein expression. Extradenticle protein is uniformly distributed throughout the embryo until gastrulation, when it begins to accumulate in the nuclei of cells in a specific pattern.
PBX1, also known as Pre-B-cell leukemia transcription factor 1, is a transcription factor that binds to specific DNA sequences in conjunction with other proteins. It forms heterodimers with HOX proteins, such as HOXA1, HOXA5, HOXB7, and HOXB8, and binds to the sequence 5'-TGATTGAT-3'. It also binds to 5'-TGATTGAC-3' with a non-HOX nuclear factor and to 5'-ATCAATCAA-3' with HOXA5, HOXB7, HOXB8, HOXC8, and HOXD4. PBX1 can activate transcription of genes like PF4 in complex with MEIS1 and SOX3 by binding to the 5'-TGATTGAC-3' consensus sequence. It also plays a role in regulating CYP17A1 gene expression through its cAMP-regulatory sequence (CRS1). PBX1 might also be involved in transcriptional regulation by KLF4 in complex with MEIS2. Additionally, PBX1 acts as a transcriptional activator of NKX2-5 and a repressor of CDKN2B, contributing to spleen development by repressing CDKN2B alongside NKX2-5. In natural killer cells, PBX1 binds to the NFIL3 promoter and activates NFIL3 transcription, promoting natural killer cell development.
PBX1 is also known as CAKUHED.
Associated Diseases
- Renal hypoplasia, bilateral
- Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
