LOC110806263 TERT 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC110806263
Gene description: TERT 5' regulatory region
Gene type: biological region
Feature type(s): misc_feature: nucleotide_motif, sequence_alteration
misc_structure
protein_bind
regulatory: DNase_I_hypersensitive_site, enhancer, promoter, silencer, 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
Summary: This locus corresponds to the 5' regulatory region of the telomerase reverse transcriptase (TERT) gene, and includes the proximal promoter as well as more distal regulatory elements. This promoter is induced by binding of MYC proto-oncogene and Sp1 transcription factors to multiple sequence sites, and is positively and negatively regulated through the action of effectors from multiple signaling pathways. In particular, many tumor suppressor proteins, such as p53, p73, and p21, repress activity of this promoter. This sequence contains multiple DNase I hypersensitive sites as well as regions of low complexity, including a region that is thought to form multiple G quadruplex structures. Activity of this promoter is thought to be regulated by DNA methylation in an unusual manner: hypermethylation is associated with increased promoter activity, while hypomethylation of a region in the proximal promoter may permit association of CCCTC-binding factor (Ctcf) and silencing of transcription. Common polymorphisms in human populations, such as rs2853669 located in an Ets-factor binding site, may affect promoter activity and contribute to cancer risk. In addition, recurring somatic mutations at multiple spots in the proximal promoter are found in tumors of many tissue origins. These mutations are thought to affect binding of Ets family proteins and nuclear factor kappa B and alter secondary structure and long-range interactions, leading to increased promoter activity. A subregion was also shown to be an enhancer by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. This locus also includes two accessible chromatin subregions that were validated as silencers based on their ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Orthologs: mouse all
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Genomic context

Location:: 5p15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (1294628..1298988)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (1202438..1206798)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (1294743..1299103)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

ATAC-STARR-seq lymphoblastoid silent region 15880
ATAC-STARR-seq lymphoblastoid silent region 15881
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1295144-1295860
TERT promoter

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.