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LOC128669077 EZH1 +46 kb erythroid enhancer [ Homo sapiens (human) ]

Gene ID: 128669077, updated on 10-Oct-2023

Summary

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Gene symbol
LOC128669077
Gene description
EZH1 +46 kb erythroid enhancer
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, which is located approximately 46 kb downstream of the EZH1 (enhancer of zeste 1 polycomb repressive complex 2 subunit) gene transcription start site, has an enhancer signature and is associated with the GATA1 and TAL1 transcription factors in committed erythroid progenitor cells. It was validated as an active enhancer by reporter assays in K562 erythroleukemia cells. It was also validated as an EZH1 positively-acting cis-regulatory element based on CRISPR/Cas9-mediated deletions in K562 cells. [provided by RefSeq, Feb 2023]
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Genomic context

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Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42698703..42699884)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43555840..43557021)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40820248-40820823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40825209-40826082 Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40829663-40830164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40830165-40830664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40831166-40832014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40832015-40832863 Neighboring gene Sharpr-MPRA regulatory region 12568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40834082-40834700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12221 Neighboring gene Sharpr-MPRA regulatory region 245 Neighboring gene C-C motif chemokine receptor 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40839750-40840278 Neighboring gene contactin associated protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40842919-40843418 Neighboring gene EZH1 +39 kb lymphoid enhancer Neighboring gene enhancer of zeste 1 polycomb repressive complex 2 subunit Neighboring gene microRNA 6780a Neighboring gene ribosomal protein L34 pseudogene 30

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Developmental control of polycomb subunit composition by GATA factors mediates a switch to non-canonical functions. Xu J, et al. Mol Cell, 2015 Jan 22. PMID 25578878, Free PMC Article
  2. Genome-wide enhancer maps link risk variants to disease genes. Nasser J, et al. Nature, 2021 May. PMID 33828297, Free PMC Article
  3. Activity-by-contact model of enhancer-promoter regulation from thousands of CRISPR perturbations. Fulco CP, et al. Nat Genet, 2019 Dec. PMID 31784727, Free PMC Article

GeneRIFs: Gene References Into Functions

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

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.

Genomic

  1. NG_149642.1 

    Range
    101..1282
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42698703..42699884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43555840..43557021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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