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LOC128598885 CRISPRi-validated UROS cis-regulatory element [ Homo sapiens (human) ]

Gene ID: 128598885, updated on 12-Sep-2024

Summary

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Gene symbol
LOC128598885
Gene description
CRISPRi-validated UROS cis-regulatory element
Gene type
biological region
Feature type(s)
regulatory: 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 overlaps an intron of the UROS (uroporphyrinogen III synthase) gene on chromosome 10, and it includes a GATA1 binding motif thought to be important for gene expression in erythrocytes. It was validated as a positively-acting cis-regulatory element for UROS based on CRISPR/Cas9-mediated perturbation in K562 erythroleukemia cells. [provided by RefSeq, Feb 2023]
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Genomic context

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See LOC128598885 in Genome Data Viewer
Location:
chromosome: 10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (125816691..125816703)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (126699144..126699156)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127505260..127505272)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene erythroid differentiation regulatory factor 1 Neighboring gene EDRF1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6903 Neighboring gene matrix metallopeptidase 21 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2924 Neighboring gene uroporphyrinogen III synthase Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:127511755-127512440 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:127512660-127512879 Neighboring gene microRNA 4484 Neighboring gene BRCA2 and CDKN1A interacting protein Neighboring gene ReSE screen-validated silencer GRCh37_chr10:127541940-127542119 Neighboring gene DEAH-box helicase 32 (putative)

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. Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Wakabayashi A, et al. Proc Natl Acad Sci U S A, 2016 Apr 19. PMID 27044088, 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

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

See Variation Viewer (GRCh37.p13)

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_149609.1 

    Range
    101..113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    125816691..125816703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    126699144..126699156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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