LOC117134593 ACE2 promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC117134593
Gene description: ACE2 promoter region
Gene type: biological region
Feature type(s): misc_feature: conserved_region
protein_bind
regulatory: promoter, 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 genomic region represents the 5' regulatory region of the ACE2 (angiotensin I converting enzyme 2) gene, which encodes a functional receptor for human acute respiratory syndrome coronaviruses, including SARS-CoV and SARS-CoV-2 (COVID-19 virus). This region represents a bipartite promoter with distal and proximal portions that are conserved in placental mammals. The proximal region represents the major active promoter in pancreatic cells and is mediated by multiple binding sites for HNF1 homeobox transcription factors (HNF1A and HNF1B), and also by a binding site for forkhead box A factors (FOXA1-FOXA3). Fragments within the proximal region show increased promoter activity upon treatment with the antiviral drug remdesivir, where that effect can be attenuated by MEK inhibitors. Additional cis-regulatory elements and protein binding sites have been identified in this region, including an element that mediates promoter activity in human cardiac fibroblasts, and a GATA4-associated element in the distal promoter region. In contrast to an alternative downstream promoter region (LOC118966792) that drives expression of a truncated ACE2 isoform, neither the distal or proximal regions of this 5' regulatory region are responsive to interferon (IFN) stimulation. [provided by RefSeq, Oct 2020]
Annotation information: Note: This locus has been reviewed for its involvement in coronavirus biology, and is involved in host gene regulation.
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Genomic context

Location:: Xp

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (15600911..15603000)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (15183903..15185992)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (15619034..15621123)

Chromosome X - NC_000023.11 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

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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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General gene information

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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.