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

    Gene ID: 131, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99412263..99435342, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102727019..102750100, complement)
    RS_2024_09 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 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. An alcohol dehydrogenase 7 gene polymorphism associates with both acute and chronic pain in sickle cell disease. Kashyap Y, et al. Pharmacogenomics, 2023 Aug. PMID 37712142, Free PMC Article
    2. Frequencies of single nucleotide polymorphism in alcohol dehydrogenase7 gene in patients with multiple system atrophy and controls. Kim HS, et al. Mov Disord, 2003 Sep. PMID 14502680
    3. Identification of new single nucleotid polymorphisms (SNP) in alcohol dehydrogenase class IV ADH7 gene within a French population. Abbas A, et al. Arch Toxicol, 2006 Apr. PMID 16180008
    4. 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
    5. 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

    See all (65) 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)

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alcohol dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables alcohol dehydrogenase (NAD+) activity TAS
    Traceable Author Statement
    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_2024_08

    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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