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LOC111216290 ADH5 promoter [ Homo sapiens (human) ]

Gene ID: 111216290, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111216290
Gene description
ADH5 promoter
Gene type
biological region
Feature type(s)
protein_bind
regulatory: promoter, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region represents the promoter of the alcohol dehydrogenase 5 (class III), chi polypeptide (ADH5) gene. This promoter is stimulated through binding of Sp1 transcription factor, which is antagonized by Sp3/Sp4 transcription factor and zinc finger and BTB domain containing 7a (Zbtb7a/FBI-1). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress 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 LOC111216290 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 (99088718..99089986)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102403618..102404886)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100009869..100011137)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900738 Neighboring gene methionyl aminopeptidase 1 Neighboring gene activator of basal transcription 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21737 Neighboring gene uncharacterized LOC100507053 Neighboring gene Sharpr-MPRA regulatory region 12553 Neighboring gene uncharacterized LOC124900739 Neighboring gene alcohol dehydrogenase 5 (class III), chi polypeptide Neighboring gene ADH4 promoter Neighboring gene alcohol dehydrogenase 4 (class II), pi 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. Sp3 and Sp4 can repress transcription by competing with Sp1 for the core cis-elements on the human ADH5/FDH minimal promoter. Kwon HS, et al. J Biol Chem, 1999 Jan 1. PMID 9867805
  2. Cell-specific function of cis-acting elements in the regulation of human alcohol dehydrogenase 5 gene expression and effect of the 5'-nontranslated region. Hur MW, et al. J Biol Chem, 1995 Apr 14. PMID 7721811
  3. Cloning and characterization of the ADH5 gene encoding human alcohol dehydrogenase 5, formaldehyde dehydrogenase. Hur MW, et al. Gene, 1992 Nov 16. PMID 1446828
  4. POZ domain transcription factor, FBI-1, represses transcription of ADH5/FDH by interacting with the zinc finger and interfering with DNA binding activity of Sp1. Lee DK, et al. J Biol Chem, 2002 Jul 26. PMID 12004059
  5. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

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

  • ATAC-STARR-seq lymphoblastoid silent region 15582

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_055572.1 

    Range
    101..1369
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    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
    99088718..99089986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    102403618..102404886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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