LOC106707174 ERVW-1 upstream regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106707174
Gene description: ERVW-1 upstream regulatory region
Gene type: biological region
Feature type(s): mobile_element
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 region contains regulatory elements that drive expression of the retroviral-derived ERVW-1 (endogenous retrovirus group W, member 1) gene, which encodes the syncytin-1 protein. This region is rich in endogenous-retroviral related sequence and contains in particular an LTR (long terminal repeat) that functions as a promoter. It also includes a trophoblast-specific enhancer and an adjacent negative regulatory sequence that is related to a MaLR family LTR. Activity of the promoter and enhancer is stimulated by binding of GATA binding proteins, glial cells missing homolog 1 (GCMa), tumor necrosis factor, PPARgamma, and RXRalpha, and is blocked by DNA methylation. This region includes an additional upstream glial cells missing homolog 1 (GCMa) binding site that is important for activity. Two subregions were also shown to be active enhancers by ChIP-STARR-seq in primed human embryonic stem cells, where both are marked by the H3K27ac histone modification and one is additionally marked by H3K4me1. [provided by RefSeq, Oct 2022]
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Genomic context

Location:: chromosome: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (92477269..92480729)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (93718584..93722044)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (92106727..92110043)

Chromosome 7 - NC_000007.14 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

H3K27ac hESC enhancer GRCh37_chr7:92108588-92109369
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:92106583-92107502

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.