LOC117204001 ANPEP proximal promoter [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC117204001
Gene description: ANPEP proximal promoter
Gene type: biological region
Feature type(s): protein_bind
regulatory: TATA_box, 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 proximal promoter of the ANPEP (alanyl aminopeptidase, membrane, also known as aminopeptidase N, CD13 or APN) gene, which encodes an entry receptor for human coronavirus 229E (HCoV-229E), and it may be associated with other acute respiratory syndrome coronaviruses, including SARS-CoV and SARS-CoV-2 (COVID-19 virus). This region represents the more proximal of two major promoters identified for ANPEP, where it drives gene expression in intestinal epithelial and various other cell types. Several cis-regulatory regions have been identified within this promoter, including regions that bind Maf and Ets transcription factors, and a negatively-acting region that is regulated by AT motif binding factor (ZFHX3, also known as ATBF1). This promoter regulates ANPEP expression during capillary tube formation and angiogenesis, and it can be induced by angiogenic growth factors regulated by the RAS/MAPK pathway. [provided by RefSeq, Apr 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

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Location:: 15q

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (89806536..89808328)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87562401..87564193)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90349767..90351559)

Chromosome 15 - NC_000015.10 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

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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 variants in ClinVar

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General gene information

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Other Names

CD13/APN downstream promoter
aminopeptidase N intestinal epithelial 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.