The PKNOX1 gene is located on chromosome 21q22.3 in humans . It encodes a homeodomain-containing polypeptide of 436 amino acids . The protein has a calculated molecular mass of approximately 49 kDa . The homeodomain is a conserved DNA-binding domain that allows the protein to bind to specific DNA sequences and regulate the transcription of target genes .
PKNOX1 is expressed in various human tissues, including the adult heart, brain, placenta, lung, liver, muscle, kidney, and pancreas, as well as in several fetal tissues . The protein plays a significant role in the formation of transcriptionally active complexes that are involved in development and organogenesis .
PKNOX1 forms complexes with other proteins, such as PBX1 and PBX2, to regulate gene expression. These complexes recognize specific DNA sequences and modulate the transcription of target genes . The interaction of PKNOX1 with its partners is independent of DNA, indicating that the protein-protein interactions are crucial for its function .
PKNOX1 is involved in several biological processes, including angiogenesis, regulation of transcription by RNA polymerase II, camera-type eye development, hemopoiesis, and positive regulation of transcription . The protein is predicted to be located in both the cytoplasm and nucleus and is part of chromatin .
Mutations or dysregulation of PKNOX1 have been associated with various diseases. For example, PKNOX1 is linked to familial temporal lobe epilepsy . Understanding the function and regulation of PKNOX1 can provide insights into the molecular mechanisms underlying these diseases and potentially lead to the development of targeted therapies.
Recombinant PKNOX1 protein is used in research to study its function and interactions with other proteins. By expressing and purifying the recombinant protein, researchers can investigate its role in gene regulation and its potential involvement in disease processes. This knowledge can contribute to the development of new therapeutic strategies for diseases associated with PKNOX1 dysregulation.