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LOC111188164 ADH1C promoter region [ Homo sapiens (human) ]

Gene ID: 111188164, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111188164
Gene description
ADH1C promoter region
Gene type
biological region
Feature type(s)
mobile_element
protein_bind
regulatory: TATA_box, enhancer, promoter
repeat_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 encompasses the proximal promoter and a more distal promoter of the alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C) gene, also known as ADH3. The proximal promoter contains a site that responds to retinoic acid and is negatively regulated by thyroid hormone. The more distal promoter is derived from sequence related to an endogenous retroviral long terminal repeat (LTR) and contains four repeated motifs that include putative binding sites for nuclear transcription factor Y. Naturally-occurring polymorphisms in this region may influence promoter activity. This region is repressed by DNA methylation and histone deacetylation. [provided by RefSeq, Oct 2017]
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Genomic context

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See LOC111188164 in Genome Data Viewer
Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99352692..99354277)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102667447..102669032)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100273849..100275434)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507053 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:100207424-100208623 Neighboring gene ADH1A promoter Neighboring gene alcohol dehydrogenase 1A (class I), alpha polypeptide Neighboring gene NANOG hESC enhancer GRCh37_chr4:100231513-100232014 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:100238861-100240060 Neighboring gene ADH1B promoter Neighboring gene alcohol dehydrogenase 1B (class I), beta polypeptide Neighboring gene alcohol dehydrogenase 1C (class I), gamma polypeptide Neighboring gene uncharacterized LOC102723576 Neighboring gene D-E enhancer region downstream of ADH7 Neighboring gene ADH7 promoter Neighboring gene alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide

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. A retroviral repetitive element confers tissue-specificity to the human alcohol dehydrogenase 1C (ADH1C) gene. Chen HJ, et al. DNA Cell Biol, 2002 Nov. PMID 12489990
  2. Regulation of the human alcohol dehydrogenases genes ADH1, ADH2 and ADH3: differences in cis-acting sequences at CTF/NF-I sites. Edenberg HJ, et al. Adv Exp Med Biol, 1993. PMID 8493936
  3. DNA elements mediating retinoid and thyroid hormone regulation of alcohol dehydrogenase gene expression. Zgombić M, et al. Adv Exp Med Biol, 1993. PMID 8388158
  4. Regulation of human alcohol dehydrogenase genes. Edenberg HJ, et al. Pharmacogenetics, 1992 Oct. PMID 1339084
  5. Retinoic acid activation and thyroid hormone repression of the human alcohol dehydrogenase gene ADH3. Harding PP, et al. J Biol Chem, 1992 Jul 15. PMID 1321136

See all (20) 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)

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_055567.1 

    Range
    101..1686
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    99352692..99354277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    102667447..102669032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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