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LOC111674476 CFTR -35 kb upstream enhancer [ Homo sapiens (human) ]

Gene ID: 111674476, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111674476
Gene description
CFTR -35 kb upstream enhancer
Gene type
biological region
Feature type(s)
protein_bind
regulatory: DNase_I_hypersensitive_site, enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DHS-35kb
Summary
This genomic region represents a DNase I hypersensitive site, DHS-35kb, that corresponds to an enhancer of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is located approximately 35 kb downstream. This enhancer functions in cells of the bronchial airways and it shows cooperative activity with the -44 kb, -3.4 kb and intron 23 CFTR enhancers. It is stimulated by binding of interferon regulatory factors 1 and 2, and is associated with the NF-Y and BAF155 transcription factors, and also with KLF5 and Ets homologous factor (EHF), which repress airway expression of CFTR. Looping interactions have been observed between this region and the CFTR promoter. [provided by RefSeq, Nov 2018]
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Genomic context

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Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117444395..117445995)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118759727..118761327)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117084449..117086049)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene greater CFTR locus negative regulatory element CR18 Neighboring gene ankyrin repeat, SAM and basic leucine zipper domain containing 1 Neighboring gene DNase I hypersensitive site -80 kb upstream of CFTR Neighboring gene CFTR -44 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 1 enhancer 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 CFTR antisense RNA 1

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. Oxidative stress regulates CFTR gene expression in human airway epithelial cells through a distal antioxidant response element. Zhang Z, et al. Am J Respir Cell Mol Biol, 2015 Mar. PMID 25259561, Free PMC Article
  2. Invariant TAD Boundaries Constrain Cell-Type-Specific Looping Interactions between Promoters and Distal Elements around the CFTR Locus. Smith EM, et al. Am J Hum Genet, 2016 Jan 7. PMID 26748519, Free PMC Article
  3. A genome-wide analysis of open chromatin in human epididymis epithelial cells reveals candidate regulatory elements for genes coordinating epididymal function. Bischof JM, et al. Biol Reprod, 2013 Oct. PMID 24006278, Free PMC Article
  4. Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements. Moisan S, et al. Nucleic Acids Res, 2016 Apr 7. PMID 26615198, Free PMC Article
  5. Architectural proteins CTCF and cohesin have distinct roles in modulating the higher order structure and expression of the CFTR locus. Gosalia N, et al. Nucleic Acids Res, 2014 Sep. PMID 25081205, Free PMC Article

See all (16) 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

  • CFTR -35 kb DNase I hypersensitive site

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_056132.1 

    Range
    101..1701
    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
    117444395..117445995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118759727..118761327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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