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    KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 [ Homo sapiens (human) ]

    Gene ID: 10984, updated on 2-Aug-2021

    Summary

    Official Symbol
    KCNQ1OT1provided by HGNC
    Official Full Name
    KCNQ1 opposite strand/antisense transcript 1provided by HGNC
    Primary source
    HGNC:HGNC:6295
    See related
    Ensembl:ENSG00000269821 MIM:604115
    Gene type
    ncRNA
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LIT1; Kncq1; KvDMR1; KCNQ10T1; KCNQ1-AS2; KvLQT1-AS; NCRNA00012
    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]
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    Genomic context

    See KCNQ1OT1 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2608328..2699998, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2629558..2721228, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel subfamily M member 5 Neighboring gene potassium voltage-gated channel subfamily Q member 1 Neighboring gene Sharpr-MPRA regulatory region 10946 Neighboring gene nonconserved acetylation island sequence 52 enhancer Neighboring gene cytochrome c oxidase subunit 6C pseudogene 18

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Beckwith-Wiedemann syndrome Compare labs
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    GeneReviews: Not available
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2012-03-22)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    Some evidence for dosage pathogenicity (Last evaluated 2012-03-22)

    ClinGen Genome Curation PagePubMed

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Other Names

    • KCNQ1 antisense RNA 2 (non-protein coding)
    • KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
    • KCNQ1 overlapping transcript 1 (non-protein coding)
    • long QT intronic transcript 1

    Clone Names

    • FLJ41078

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables miRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin silencing IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of negative regulation of gene silencing by miRNA IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of miRNA catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016178.2 RefSeqGene

      Range
      5001..96671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1052

    RNA

    1. NR_002728.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC021424, AC124055
      Related
      ENST00000597346.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      2608328..2699998 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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