KCNQ1 overlapping transcript 1 (KCNQ1OT1)

KCNQ1 overlapping transcript 1 (KCNQ1OT1) is a long non-coding RNA (lncRNA) gene located at the KCNQ1 locus on chromosome 11p15.5[1][4][7]. Unlike the protein-coding gene KCNQ1, KCNQ1OT1 is transcribed in the antisense direction and does not encode a protein[4][7]. It is exclusively expressed from the paternal allele due to genomic imprinting, while the maternal copy is silenced via methylation. KCNQ1OT1 plays a critical role in the epigenetic silencing of neighboring imprinted genes by recruiting chromatin regulators such as G9a (a histone methyltransferase) and Polycomb repressive complex 2 (PRC2), mediating histone modification (H3K9 and H3K27 methylation), and affecting DNA methylation patterns[1][3][6][7]. This regulatory mechanism ensures proper growth and development; its dysregulation leads to disorders such as Beckwith-Wiedemann syndrome (a pediatric overgrowth disorder) and is implicated in Wilms tumor and other growth abnormalities[1][4][7]. KCNQ1OT1 is not a therapeutic target like a receptor or enzyme but rather an epigenetic regulator whose function is relevant for disease pathogenesis, diagnosis, and possibly future epigenetic therapies[1][7]. No drugs are currently known to target KCNQ1OT1 directly, but its methylation status is used as a biomarker in clinical genetics for syndromes such as Beckwith-Wiedemann syndrome[4].

Other names

KvDMR1KCNQ1-AS2KvLQT1-ASLIT1NCRNA00012non-protein coding RNA 12KCNQ1 antisense RNA 2 (non-protein coding)KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)long QT intronic transcript 1FLJ41078KCNQ1OT1

Not a druggable protein; acts via chromatin interaction and recruitment of histone methyltransferases and DNA methyltransferases to mediate gene silencing