DPH3P1 Human

Diphthamide Biosynthesis 3 Pseudogene 1 (DPH3P1) is a pseudogene associated with the diphthamide biosynthesis pathway. Pseudogenes are segments of DNA that resemble functional genes but typically lack the ability to encode proteins due to mutations or deletions. Despite this, pseudogenes can play roles in gene regulation and evolution.

DPH3P1 is located on chromosome 20 and is considered a processed pseudogene of the DPH3 gene . The DPH3 gene is involved in the biosynthesis of diphthamide, a unique post-translational modification of histidine residues in elongation factor 2 (EF-2), which is crucial for protein synthesis.

While DPH3P1 itself is a pseudogene and does not produce a functional protein, its parent gene, DPH3, plays a significant role in the diphthamide biosynthesis pathway. Diphthamide is essential for the proper function of EF-2, and its modification is critical for cellular protein synthesis. The diphthamide modification is also the target of diphtheria toxin, which inactivates EF-2, leading to the inhibition of protein synthesis and cell death.

Human recombinant DPH3P1 is used in research to study the regulatory mechanisms of pseudogenes and their potential roles in gene expression and cellular processes. Understanding the function and regulation of pseudogenes like DPH3P1 can provide insights into genetic evolution and the complexity of gene regulation networks.