LOC117204000 ANPEP distal promoter [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC117204000
Gene description: ANPEP distal promoter
Gene type: biological region
Feature type(s): protein_bind
regulatory: enhancer, 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 distal 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 distal of two major promoters identified for ANPEP, where it drives gene expression in myeloid and fibroblast cells. Several cis-regulatory regions have been identified within this promoter, including regions that bind DMP1, Myb and Ets transcription factors, where Myb and Ets act cooperatively to transactivate the promoter, and where Myb can form a developmentally regulated inhibitory complex with Maf during early myeloid cell differentiation. A subregion was also validated as an enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
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:: 15q

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (89814421..89815942)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87570282..87571803)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90358020..90359174)

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

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

CD13/APN upstream promoter
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90357653-90358152
aminopeptidase N myeloid and fibroblast 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.