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LOC111674478 CFTR -44 kb upstream enhancer [ Homo sapiens (human) ]

Gene ID: 111674478, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111674478
Gene description
CFTR -44 kb upstream enhancer
Gene type
biological region
Feature type(s)
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
DHS-44kb
Summary
This genomic region, which is located approximately 44 kb upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, includes a DNase I hypersensitive site, DHS-44kb, and sub-regions that can function as CFTR enhancers in bronchial airway cells. One enhancer region shows cooperative activity with the -35 kb CFTR enhancer, while another enhancer region cooperates with the +36.6 kb CFTR enhancer. This genomic region can physically interact with the CFTR promoter and other CFTR regulatory elements within a larger topologically associating domain (TAD). [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 (117434807..117436695)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118750140..118752028)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117074861..117076749)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Wnt family member 2 Neighboring gene uncharacterized LOC105375467 Neighboring gene greater CFTR locus negative regulatory element CR15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:116962406-116962980 Neighboring gene greater CFTR locus negative regulatory element CR17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26546 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 -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

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 -44 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_056134.2 

    Range
    101..1989
    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
    117434807..117436695
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118750140..118752028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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