Homo sapiens Gene: KCNQ1OT1

Summary
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
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
Transcripts
ENST00000597346 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
 
Gene Ontology
Accession GO Term
Molecular Function
Biological Process
Cellular Component
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 10984 
UniGene Hs.604823 Hs.608369 Hs.671211 Hs.741312 Hs.741624 Hs.741696 Hs.741966
RefSeq
HUGO 6295 
OMIM 604115
CCDS
HPRD
IMGT
EMBL
GenPept
ImmGen KCNQ1OT1 (murine) 
RNA Seq Atlas 10984