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LOC107880064 IVL promoter region [ Homo sapiens (human) ]

Gene ID: 107880064, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107880064
Gene description
IVL promoter region
Gene type
biological region
Feature type(s)
protein_bind
regulatory: enhancer, promoter, response_element, silencer, 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 spans the cis-regulatory region of the involucrin gene. It includes a distal regulatory region (DRR) approximately 2 kb upstream of the gene, as well as a more proximal promoter region (PRR) and a negative regulatory region in the first intron. Two AP-1 family recognition sites, one in the DRR and one in the PRR, are critical for optimal levels and tissue specific expression. Several different AP-1 transcriptional regulators, including Fra1, Fos and Jun family proteins, bind to the AP-1 recognition site. Activity of this region is stimulated by protein kinase C, calcium, interferon gamma, and vitamin D. Binding by TEA domain transcription factor 1 and POU class 2 homeobox 2 negatively regulate this promoter. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC107880064 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (152906047..152909786)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (152042695..152046434)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152878523..152882262)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1736 Neighboring gene sperm mitochondria associated cysteine rich protein Neighboring gene involucrin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1336 Neighboring gene long intergenic non-protein coding RNA 1527 Neighboring gene small proline rich protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1739 Neighboring gene small proline rich protein 4

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. Arsenite suppression of involucrin transcription through AP1 promoter sites in cultured human keratinocytes. Sinitsyna NN, et al. Toxicol Appl Pharmacol, 2010 Mar 15. PMID 20006635, Free PMC Article
  2. Involucrin expression in the corneal epithelium: an essential role for Sp1 transcription factors. Adhikary G, et al. Invest Ophthalmol Vis Sci, 2005 Sep. PMID 16123409
  3. An involucrin promoter AP1 transcription factor binding site is required for expression of involucrin in the corneal epithelium in vivo. Adhikary G, et al. Invest Ophthalmol Vis Sci, 2005 Apr. PMID 15790882
  4. Tetracycline-regulated transactivators driven by the involucrin promoter to achieve epidermal conditional gene expression. Jaubert J, et al. J Invest Dermatol, 2004 Aug. PMID 15245431
  5. The human involucrin gene is transcriptionally repressed through a tissue-specific silencer element recognized by Oct-2. Azuara-Liceaga E, et al. Biochem Biophys Res Commun, 2004 May 28. PMID 15120610

See all (50) 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

  • ATAC-STARR-seq lymphoblastoid active region 1737

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_047108.1 

    Range
    101..3840
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    152906047..152909786
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    152042695..152046434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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