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LOC111674464 CFTR intron 1 enhancer [ Homo sapiens (human) ]

Gene ID: 111674464, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111674464
Gene description
CFTR intron 1 enhancer
Gene type
biological region
Feature type(s)
misc_feature: conserved_region
protein_bind
regulatory: DNase_I_hypersensitive_site, enhancer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DHS1
Summary
This genomic region represents closely situated DNase I hypersensitive sites in the first intron of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It includes a conserved element that can function as a CFTR enhancer in Caco2 colorectal adenocarcinoma cells, and which shows cooperative activity with the intron 11 and +15.6 kb CFTR enhancers. Binding sites for multiple transcription factors, including SRF, HNF1 and TCF4, have been found in this region, and it has also been shown to associate with FOXA1, FOXA2 and CDX2 in vivo. This region can physically interact with the CFTR promoter and other CFTR regulatory elements in a larger topologically associating domain (TAD). [provided by RefSeq, Nov 2018]
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Genomic context

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See LOC111674464 in Genome Data Viewer
Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117489455..117492403)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118804796..118807744)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117129509..117132457)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CFTR -35 kb upstream enhancer Neighboring gene uncharacterized LOC105375468 Neighboring gene ANKRD49 pseudogene 4 Neighboring gene DNase I hypersensitive site -20.9 kb upstream of CFTR Neighboring gene greater CFTR locus negative regulatory element NR9 Neighboring gene CFTR promoter region Neighboring gene CFTR intron 2 DNase I hypersensitive site Neighboring gene CFTR intron 3 DNase I hypersensitive site Neighboring gene CF transmembrane conductance regulator Neighboring gene greater CFTR locus negative regulatory element CR19 Neighboring gene greater CFTR locus negative regulatory element CR20 Neighboring gene CFTR antisense RNA 1 Neighboring gene DNase I hypersensitive sites in intron 10ab of CFTR Neighboring gene DNase I hypersensitive site in intron 10c of CFTR Neighboring gene CFTR intron 11 enhancer Neighboring gene DNase I hypersensitive sites in introns 16 and 17a of CFTR Neighboring gene CFTR intron 18a DNase I hypersensitive site Neighboring gene DNase I hypersensitive site in intron 18 of CFTR Neighboring gene CFTR intron 18b DNase I hypersensitive site Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:117270281-117271480 Neighboring gene CFTR intron 19 DNase I hypersensitive site Neighboring gene CFTR intron 20 enhancer Neighboring gene CFTR intron 21 enhancer Neighboring gene CFTR intron 23 enhancer Neighboring gene DNase I hypersensitive region 5.4 to 7.4 kb downstream of CFTR Neighboring gene DNase I hypersensitive region 15.6 kb downstream of CFTR Neighboring gene CFTR +21.5 kb DNase I hypersensitive site Neighboring gene CFTR +36.6 kb downstream enhancer Neighboring gene greater CFTR locus negative regulatory element NR11 Neighboring gene CTTNBP2 intron enhancer-blocking element 7-1-1 Neighboring gene uncharacterized LOC105375469 Neighboring gene cortactin binding protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. An element in intron 1 of the CFTR gene augments intestinal expression in vivo. Rowntree RK, et al. Hum Mol Genet, 2001 Jul 1. PMID 11448937
  2. CFTR intron 1 increases luciferase expression driven by CFTR 5'-flanking DNA in a yeast artificial chromosome. Mogayzel PJ Jr, et al. Genomics, 2000 Mar 1. PMID 10729228
  3. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. Hantash FM, et al. Hum Genet, 2006 Mar. PMID 16362824
  4. In vivo analysis of DNase I hypersensitive sites in the human CFTR gene. Moulin DS, et al. Mol Med, 1999 Apr. PMID 10448643, Free PMC Article
  5. A regulatory element in intron 1 of the cystic fibrosis transmembrane conductance regulator gene. Smith AN, et al. J Biol Chem, 1996 Apr 26. PMID 8626632

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • 181 + 10 kb DNase I hypersensitive site
  • CFTR DHS1 in intron 1

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_056121.2 

    Range
    101..3049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    117489455..117492403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118804796..118807744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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