LOC109648314 RUNX1 enhancer RE1 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC109648314
Gene description: RUNX1 enhancer RE1
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 region represents a conserved enhancer element located in a 5' intron of the runt related transcription factor 1 (RUNX1) gene. The corresponding sequence in mouse drives expression of Runx1 in the hemetopoietic cell lineage. A sub-region of the human element was also validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells. This sub-region contains a conserved motif for a GATA activator, and mutation of the motif results in reduced enhancer activity. This genomic region was shown to have physical interactions with both the RUNX1 P1 and P2 promoters as well as a conserved sequence in intron 5. [provided by RefSeq, Nov 2017]
Orthologs: mouse all
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Genomic context

Location:: chromosome: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (35026672..35027174)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (33409467..33409969)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (36398969..36399471)

Chromosome 21 - NC_000021.9 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

GATA activator MPRA enhancer 44
GATA motif-containing MPRA enhancer 44
RUNX1 +24 enhancer
RUNX1 intronic hemetopoietic enhancer
massively parallel reporter assay enhancer 44

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.