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ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide [ Homo sapiens (human) ]

Gene ID: 131, updated on 11-Apr-2024

Summary

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Official Symbol
ADH7provided by HGNC
Official Full Name
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptideprovided by HGNC
Primary source
HGNC:HGNC:256
See related
Ensembl:ENSG00000196344 MIM:600086; AllianceGenome:HGNC:256
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADH4
Summary
This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Expression
Restricted expression toward esophagus (RPKM 95.5) See more
Orthologs
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Genomic context

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See ADH7 in Genome Data Viewer
Location:
4q23
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99412263..99435342, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102727019..102750100, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100333420..100356499, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ADH1C promoter region 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 MED14-independent group 3 enhancer GRCh37_chr4:100367692-100368891 Neighboring gene chromosome 4 open reading frame 17 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:100484300-100485499 Neighboring gene tRNA methyltransferase 10A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Association of ADH7 Gene Polymorphism with Schizophrenia in the Han Population of Northern China: a Case-Control Study. Zeng K, et al. J Mol Neurosci, 2020 Nov. PMID 32388801
  2. Protective variant associated with alcohol dependence in a Mexican American cohort. Norden-Krichmar TM, et al. BMC Med Genet, 2014 Dec 21. PMID 25527893, Free PMC Article
  3. Alcohol dehydrogenase (ADH) isoenzymes and aldehyde dehydrogenase (ALDH) activity in the sera of patients with gastric cancer. Jelski W, et al. Dig Dis Sci, 2008 Aug. PMID 18231859
  4. Association of the gastric alcohol dehydrogenase gene ADH7 with variation in alcohol metabolism. Birley AJ, et al. Hum Mol Genet, 2008 Jan 15. PMID 17921519
  5. ADH7 variation modulates extraversion and conscientiousness in substance-dependent subjects. Luo X, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Mar 5. PMID 17918242, Free PMC Article

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. An alcohol dehydrogenase 7 gene polymorphism associates with both acute and chronic pain in sickle cell disease.
    Title: An alcohol dehydrogenase 7 gene polymorphism associates with both acute and chronic pain in sickle cell disease.
  2. Association of ADH7 Gene Polymorphism with Schizophrenia in the Han Population of Northern China: a Case-Control Study.
    Title: Association of ADH7 Gene Polymorphism with Schizophrenia in the Han Population of Northern China: a Case-Control Study.
  3. These results provide evidence that PAX6 might drive corneal epithelial differentiation by direct or indirect control of retinoic acid signaling processes through ADH7 and ALDH1A1.
    Title: Expression of retinoic acid signaling components ADH7 and ALDH1A1 is reduced in aniridia limbal epithelial cells and a siRNA primary cell based aniridia model.
  4. The results of the study do not support our hypothesis that ADH1B and ADH7 genotypes affect blood ethanol, and acetaldehyde concentration.
    Title: Effect of alcohol dehydrogenase-1B and -7 polymorphisms on blood ethanol and acetaldehyde concentrations in healthy subjects with a history of moderate alcohol consumption.
  5. These results suggest that variants near ADH7 may play a role in protection from alcohol dependence in this Mexican American cohort.
    Title: Protective variant associated with alcohol dependence in a Mexican American cohort.
  6. ADH1B-ADH1C-ADH7 cluster SNPs confer susceptibility to esophageal squamous cell carcinoma
    Title: Replication study of ESCC susceptibility genetic polymorphisms locating in the ADH1B-ADH1C-ADH7 cluster identified by GWAS.
  7. Transcriptional regulatory elements of ADH7 were identified that effect gene expression.
    Title: Single-nucleotide polymorphisms interact to affect ADH7 transcription.
  8. common ADH1-7 variants conferred risk for both schizophrenia in African-Americans and autism in European-Americans.
    Title: Association between common alcohol dehydrogenase gene (ADH) variants and schizophrenia and autism.
  9. The rs1573496 (ADH7) polymorphism was not associated with colorectal cancer risk overall in Western-European populations. However, the relationship between alcohol and colorectal cancer risk might be modulated by the rs1573496 (ADH7) polymorphism.
    Title: Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphisms, alcohol intake and the risk of colorectal cancer in the European Prospective Investigation into Cancer and Nutrition study.
  10. The current results support the ADH7 A92G SNP as a marker for the risk of SCCHN in non-Hispanic white populations.
    Title: A single nucleotide polymorphism in the alcohol dehydrogenase 7 gene (alanine to glycine substitution at amino acid 92) is associated with the risk of squamous cell carcinoma of the head and neck.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of hypertension and blood pressure in African Americans.
EBI GWAS Catalog
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
EBI GWAS Catalog
Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.
EBI GWAS Catalog
Genetic variants associated with disordered eating.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alcohol dehydrogenase (NAD+) activity TAS
Traceable Author Statement
more info
 PubMed 
enables alcohol dehydrogenase (NAD+) activity, zinc-dependent IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alcohol dehydrogenase (NAD+) activity, zinc-dependent IDA
Inferred from Direct Assay
more info
 PubMed 
enables aldehyde oxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables all-trans-retinol dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables all-trans-retinol dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ethanol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables omega-hydroxydecanoate dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables receptor antagonist activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables retinol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in fatty acid omega-oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to bacterium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to ethanol IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinoic acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retinoid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
all-trans-retinol dehydrogenase [NAD(+)] ADH7
Names
alcohol dehydrogenase VII
alcohol dehydrogenase class 4 mu/sigma chain
alcohol dehydrogenase class IV mu/sigma chain
alcohol dehydrogenase-7
class IV sigma-1 alcohol dehydrogenase
class IV sigmasigma alcohol dehydrogenase
gastric alcohol dehydrogenase
omega-hydroxydecanoate dehydrogenase ADH7
retinol dehydrogenase
NP_000664.3
NP_001159976.1

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.

mRNA and Protein(s)

  1. NM_000673.7 → NP_000664.3  all-trans-retinol dehydrogenase [NAD(+)] ADH7 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (2) that has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AP001960
    Consensus CDS
    CCDS34034.2
    UniProtKB/TrEMBL
    A0A0C4DG85, E9PFG0
    Related
    ENSP00000414254.2, ENST00000437033.7
    Conserved Domains (1) summary
    cd08299
    Location:3 → 374
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

  2. NM_001166504.2 → NP_001159976.1  all-trans-retinol dehydrogenase [NAD(+)] ADH7 isoform 1

    See identical proteins and their annotated locations for NP_001159976.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AK301696, CA311897, CD014081, DB350054
    Consensus CDS
    CCDS54781.1
    UniProtKB/TrEMBL
    E9PFG0
    Related
    ENSP00000420269.1, ENST00000476959.5
    Conserved Domains (1) summary
    cd08299
    Location:27 → 394
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

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
    99412263..99435342 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    102727019..102750100 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P40394.2 GenPept UniProtKB/Swiss-Prot:P40394

Gene LinkOut

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