Homo sapiens Gene: KCNQ1OT1
InnateDB Gene IDBG-713685.1
Last Modified 2013-04-25 [Report errors or provide feedback]
Gene Symbol KCNQ1OT1
Gene Name KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
Synonyms KCNQ1-AS2; KCNQ10T1; KvDMR1; KvLQT1-AS; LIT1; NCRNA00012;
Species Homo sapiens
Ensembl Gene ENSG00000269821
Encoded Proteins
Protein Structure
Entrez 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 the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012]
Gene Information
Type antisense
Genomic Location Chromosome 11:2629558-2721224
Strand Reverse strand
Band p15.5
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
No orthologs found for this gene
UniProt Splice Variant
Entrez Gene 10984
UniGene Hs.604823 Hs.608369 Hs.671211 Hs.741312 Hs.741624 Hs.741696 Hs.741966
HUGO 6295
OMIM 604115
ImmGen KCNQ1OT1 (murine)
RNA Seq Atlas 10984