SET domain and mariner transposase fusion gene (SETMAR)

The SET domain and mariner transposase fusion gene pseudogene (ENSG00000288556) is a nonfunctional genomic sequence related to the SETMAR gene, which is a fusion between a histone-lysine N-methyltransferase (SET domain) and a mariner transposase. The functional SETMAR protein binds DNA, participates in DNA repair (such as non-homologous end joining and double-strand break repair), and methylates histone H3 lysine 4 and 36. However, this reference is to a pseudogene and does not produce a functional protein product. The functional SETMAR fusion gene is found only in anthropoid primates and is implicated in DNA repair and potentially in some disease processes, but the pseudogene variant has no validated biological activity or disease relevance[1]. In summary, ENSG00000288556 refers to a pseudogene rather than an expressed, functional protein. The true target of interest, if seeking a therapeutic or biological role, would be the protein-coding SETMAR gene, not the pseudogene described by this Ensembl ID[1].

Other names

SETMARMetnaseSET domain and mariner transposase fusion protein