ELP5 Human

The ELP5 gene, also known as DERP6, is located on chromosome 17p13.1 and spans approximately 8 kilobases, containing 8 exons . The deduced protein consists of 316 amino acids and includes a large central HAP2 elongator superfamily domain . The protein is primarily found in the cytosol, with a smaller proportion in the nuclear fraction .

ELP5 is a component of the elongator complex, which is required for the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs . This complex is involved in several tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) . These modifications are crucial for maintaining translational fidelity and proper protein synthesis.

In addition to its role in tRNA modification, ELP5 is involved in the positive regulation of cell migration . It has been shown to increase the transcriptional activity of a p53 reporter, indicating its potential role in tumorigenesis .

ELP5 is expressed in various human tissues, with the highest expression levels observed in the heart, brain, liver, skeletal muscle, and testis . Fluorescence-tagged ELP5 shows a punctate cytoplasmic distribution in transfected cells .

Mutations or dysregulation of ELP5 have been associated with several diseases, including Ciliary Dyskinesia, Primary, 30, and Multiple Pterygium Syndrome, Escobar Variant . The elongator complex, including ELP5, has also been implicated in the regulation of tumorigenicity and migration of melanoma cells .