LOC111501765 GATA motif-containing MPRA enhancer 282 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC111501765
Gene description: GATA motif-containing MPRA enhancer 282
Gene type: biological region
Feature type(s): regulatory: enhancer, 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 was predicted to be a cell type-specific enhancer based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. A subregion was validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells. That enhancer contains a conserved motif for a GATA activator, and mutation of the motif results in reduced enhancer activity. In addition, this genomic region was validated as a high-confidence cis-regulatory element for the EPB41 (erythrocyte membrane protein band 4.1) gene on chromosome 1 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Feb 2023]
Orthologs: mouse all
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Genomic context

Location:: 1p

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (28883748..28884318)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (28725668..28726238)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (29210260..29210830)

Chromosome 1 - NC_000001.11 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

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

CRISPRi-validated cis-regulatory element EPB41 E1
CRISPRi-validated cis-regulatory element chr1.4081
GATA activator MPRA enhancer 282
massively parallel reporter assay enhancer 282

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.