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LOC105980003 E60 enhancer downstream of PAX6 [ Homo sapiens (human) ]

Gene ID: 105980003, updated on 4-Mar-2025

Summary

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Gene symbol
LOC105980003
Gene description
E60 enhancer downstream of PAX6
Gene type
biological region
Feature type(s)
misc_feature: conserved_region
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ELP4
Summary
This region contains a bipartite ultraconserved sequence composed of A and B boxes. This sequence functions as a trancriptional enhancer. It may regulate expression of the PAX6 (paired box 6) gene, located 20 kb upstream. [provided by RefSeq, Sep 2016]
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Genomic context

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See LOC105980003 in Genome Data Viewer
Location:
11p13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (31763011..31765309)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (31898824..31901122)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (31784559..31786857)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene doublecortin domain containing 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:31326823-31328022 Neighboring gene CYCS pseudogene 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4556 Neighboring gene MPRA-validated peak1237 silencer Neighboring gene DnaJ heat shock protein family (Hsp40) member C24 Neighboring gene MPRA-validated peak1238 silencer Neighboring gene MPRA-validated peak1240 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:31531307-31532196 Neighboring gene inner mitochondrial membrane peptidase subunit 1 Neighboring gene HCNE8 enhancer downstream of PAX6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31565420-31566029 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31566030-31566638 Neighboring gene RB enhancer downstream of PAX6 Neighboring gene elongator acetyltransferase complex subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4558 Neighboring gene E100 enhancer downstream of PAX6 Neighboring gene PAX6 downstream regulatory region Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:31800787-31801986 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:31814755-31814968 Neighboring gene enhancer region in intron 7 of PAX6 Neighboring gene regulatory region in intron 4 of PAX6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:31827075-31827744 Neighboring gene PAX6 upstream regulatory region Neighboring gene PAX6 antisense RNA 1 Neighboring gene paired box 6 Neighboring gene PAX6 upstream antisense RNA

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. Pax6 3' deletion results in aniridia, autism and mental retardation. Davis LK, et al. Hum Genet, 2008 May. PMID 18322702, Free PMC Article
  2. 3' deletions cause aniridia by preventing PAX6 gene expression. Lauderdale JD, et al. Proc Natl Acad Sci U S A, 2000 Dec 5. PMID 11087823, Free PMC Article
  3. Long-range downstream enhancers are essential for Pax6 expression. Kleinjan DA, et al. Dev Biol, 2006 Nov 15. PMID 17014839, Free PMC Article
  4. Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence. Kleinjan DA, et al. PLoS Genet, 2008 Feb. PMID 18282108, Free PMC Article
  5. Ultraconserved elements in the human genome. Bejerano G, et al. Science, 2004 May 28. PMID 15131266

See all (6) citations in PubMed

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)

General gene information

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Other Names

  • elongation protein 4 homolog
  • ultraconserved element uc.326
  • ultraconserved element uc.327

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_042196.1 

    Range
    101..2399
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    31763011..31765309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    31898824..31901122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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