ELP4
Description
The ELP4 (elongator acetyltransferase complex subunit 4) is a protein-coding gene located on chromosome 11.
The ELP4 gene encodes a protein, ELP4, which is a component of the elongator complex. This complex functions as a histone acetyltransferase, directly interacting with RNA polymerase II during the process of transcriptional elongation. The human ELP4 gene can partially compensate for the effects of ELP4 deletion in yeast. Several alternatively spliced variants of the ELP4 gene have been identified, each encoding different protein isoforms. However, the full-length nature of only one isoform has been confirmed. In 2009, a study linked the ELP4 gene to Rolandic epilepsy, the most common form of epilepsy in humans. This was the first gene to be associated with Rolandic epilepsy. Children with this type of epilepsy often have mutations in the gene encoding Elongator Protein Complex 4, which is involved in transcription and tRNA modification. Elp4 is crucial for histone acetyltransferase (HAT) activity, which makes DNA more accessible for transcription. The absence of Elp4/5/6 results in a lack of HAT activity, highlighting the importance of HAT activity in initiating transcription and assisting RNA polymerase II during transcription elongation through chromatin and acetyl-CoA dependent pathways.
ELP4 is a component of the elongator complex, which is essential for various tRNA modifications, including mcm5U, mcm5s2U, and ncm5U. This complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 of tRNAs.
ELP4 is also known as AN, AN2, C11orf19, PAX6NEB, PAXNEB, dJ68P15A.1, hELP4.
