| Entrez gene ID | | 10984 |
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| Official gene symbol | | KCNQ1OT1 |
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| Full name | | KCNQ1 overlapping transcript 1 (non-protein coding) |
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| Aliases | | ,FLJ41078,KCNQ10T1,KvDMR1,KvLQT1-AS,LIT1,NCRNA00012, |
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| Gene summary | | Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains a promoter that drives expression of the KCNQ1OT1 transcript exclusively from the paternal allele. The KCNQ1OT1 transcript is thought to be non-coding, and regulates bidirectional gene silencing and the spreading of DNA methylation on the paternally-inherited chromosome. This transcript is thought to be unspliced and extend over more than 60 kb, but its exact nature has not been determined. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and also occurs in some forms of cancer. [provided by RefSeq] |
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| Location | | Chromosome: 11 Locus: 11p15 |
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| Gene position | | 2721228 - 2661768 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 59461 bp |
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| Gene sequence |
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| OMIM ID | | 604115 |
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