Target intelligence / Profile preview

EEF1AKMT4-ECE2 readthrough transcript protein (EEF1AKMT4-ECE2)

Target
EEF1AKMT4-ECE2
Molecular classification
Other (Readthrough transcript/fusion protein), Enzyme (methyltransferase-like domain, peptidase domain)
01

Overview

The EEF1AKMT4-ECE2 readthrough is a fusion protein resulting from the transcriptional readthrough of adjacent genes EEF1AKMT4 and ECE2, containing sequence identity and proposed enzymatic functions of both. The EEF1AKMT4-derived portion encodes a methyltransferase that specifically methylates lysine 36 of eukaryotic elongation factor 1A (eEF1A), influencing mRNA translation by modulating codon translation rates[1]. The ECE2-derived region contains a peptidase domain that hydrolyzes big endothelin-1 to produce endothelin-1, a vasoactive peptide important in cardiovascular physiology[2][3]. Evidence supporting the existence of the full-length fusion protein is limited, with most data supporting expression of individual protein domains but not the entire readthrough protein in vivo[1]. Therefore, "EEF1AKMT4-ECE2 readthrough" is not considered a canonical therapeutic target (receptor, enzyme, transporter) and its biological significance remains uncertain[1][2].

Other names
EEF1AKMT4-ECE2EEF1AKMT4-ECE2 readthrough transcript proteinMethyltransferase-like regionEndothelin-converting enzyme 2 regionECE-2ECE2Endothelin-converting enzyme 2
02

Mechanism of action

Not established for this readthrough protein; ECE2 region is a peptidase, EEF1AKMT4 region is a methyltransferase

03

Biological functions

Methylation of eukaryotic elongation factor 1A (region from EEF1AKMT4)Processing of neuroendocrine peptides, especially conversion of big endothelin-1 to endothelin-1 (region from ECE2)
04

Disease associations

Congenital Disorder of Glycosylation, Type IDCurrarino SyndromeMay play a role in amyloid-beta processing (potential link to neurodegenerative disease, by similarity)

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