LOC111240471 D-E enhancer region downstream of ADH7 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC111240471
Gene description: D-E enhancer region downstream of ADH7
Gene type: biological region
Feature type(s): protein_bind
regulatory: DNase_I_hypersensitive_site, enhancer, enhancer_blocking_element, 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 represents a regulatory region downstream of the alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7) gene. This sequence includes enhancer elements, two DNase I hypersensitive sites, and an enhancer-blocking element that associates with CCCTC-binding factor (CTCF). A subregion was also validated as a functional repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). This region may regulate expression of alcohol dehydrogenase genes, and was shown by chromatin capture conformation analysis (3C) to physically associate with nearby alcohol dehydrogenase promoters. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate 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]
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Genomic context

Location:: 4q

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (99402994..99410140)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (102717752..102724896)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (100324151..100331297)

Chromosome 4 - NC_000004.12 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 variants in ClinVar

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General gene information

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Other Names

ATAC-STARR-seq lymphoblastoid active region 21738
HNF4 motif-containing MPRA enhancer 160
Sharpr-MPRA regulatory region 3022
iA1C enhancer-blocking element
massively parallel reporter assay enhancer 160

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.