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ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide [ Homo sapiens (human) ]

Gene ID: 125, updated on 19-Sep-2021

Summary

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Official Symbol
ADH1Bprovided by HGNC
Official Full Name
alcohol dehydrogenase 1B (class I), beta polypeptideprovided by HGNC
Primary source
HGNC:HGNC:250
See related
Ensembl:ENSG00000196616 MIM:103720
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
ADH2; HEL-S-117
Summary
The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Expression
Biased expression in liver (RPKM 1714.7), fat (RPKM 1144.5) and 3 other tissues See more
Orthologs
all
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Genomic context

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See ADH1B in Genome Data Viewer
Location:
4q23
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (99304971..99321401, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100226128..100242558, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507053 Neighboring gene ADH6 promoter Neighboring gene alcohol dehydrogenase 6 (class V) Neighboring gene ADH1A promoter Neighboring gene alcohol dehydrogenase 1A (class I), alpha polypeptide Neighboring gene ADH1B promoter 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

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. ADH2 Is Downregulated by Methylation and Acts as a Novel Biomarker for Breast Carcinoma Prognosis. Wu J, et al. Ann Clin Lab Sci, 2021 Jan. PMID 33653776
  2. ADH1B∗2 Is Associated With Reduced Severity of Nonalcoholic Fatty Liver Disease in Adults, Independent of Alcohol Consumption. Vilar-Gomez E, et al. Gastroenterology, 2020 Sep. PMID 32454036, Free PMC Article
  3. Association of ADH1B Arg47His polymorphism with the risk of cancer: a meta-analysis. Tan B, et al. Biosci Rep, 2019 Apr 30. PMID 30872408, Free PMC Article
  4. Distribution of ADH1B genotypes predisposed to enhanced alcohol consumption in the Czech Roma/Gypsy population. Hubáček JA, et al. Cent Eur J Public Health, 2018 Dec. PMID 30660139
  5. Association between the missense alcohol dehydrogenase rs1229984T variant with the risk for Parkinson's disease in women. García-Martín E, et al. J Neurol, 2019 Feb. PMID 30483881

See all (394) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Influence of Comorbid Psychiatric Disorders on the Risk of Development of Alcohol Dependence by Genetic Variations of ALDH2 and ADH1B.
    Title: Influence of Comorbid Psychiatric Disorders on the Risk of Development of Alcohol Dependence by Genetic Variations of ALDH2 and ADH1B.
  2. ADH2 Is Downregulated by Methylation and Acts as a Novel Biomarker for Breast Carcinoma Prognosis.
    Title: ADH2 Is Downregulated by Methylation and Acts as a Novel Biomarker for Breast Carcinoma Prognosis.
  3. Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population.
    Title: Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population.
  4. ADH1B *2 Is Associated With Reduced Severity of Nonalcoholic Fatty Liver Disease in Adults, Independent of Alcohol Consumption.
    Title: ADH1B∗2 Is Associated With Reduced Severity of Nonalcoholic Fatty Liver Disease in Adults, Independent of Alcohol Consumption.
  5. Association of alcohol dehydrogenase and aldehyde dehydrogenase Polymorphism with Spontaneous Deep Intracerebral Haemorrhage in the Taiwan population.
    Title: Association of alcohol dehydrogenase and aldehyde dehydrogenase Polymorphism with Spontaneous Deep Intracerebral Haemorrhage in the Taiwan population.
  6. Impacts of interactions between ADH1B and ALDH2 genotypes on alcohol flushing, alcohol reeking on the day after drinking, and age distribution in Japanese alcohol-dependent men.
    Title: Impacts of interactions between ADH1B and ALDH2 genotypes on alcohol flushing, alcohol reeking on the day after drinking, and age distribution in Japanese alcohol-dependent men.
  7. Single-nucleotide polymorphism in ADH1B gene is associated with susceptibility to Multiple Head and Neck Cancers.
    Title: Alcohol-metabolizing Enzymes' Gene Polymorphisms and Susceptibility to Multiple Head and Neck Cancers.
  8. ALDH2 rs671 and ADH1B rs1229984 were significant modulators for alcohol dependence in our Han Chinese cohort.
    Title: Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison.
  9. Authors confirmed two ESCC susceptibility loci, rs671 in aldehyde dehydrogenase 2 family member gene (ALDH2) and rs1042026 in alcohol dehydrogenase 1B (class I), beta polypeptide gene (ADH1B), that significantly altered alcohol consumption behavior and subsequently modified the association between alcohol consumption and ESCC risk.
    Title: Alcohol Intake Interacts with Functional Genetic Polymorphisms of Aldehyde Dehydrogenase (ALDH2) and Alcohol Dehydrogenase (ADH) to Increase Esophageal Squamous Cell Cancer Risk.
  10. A positive dose-response relationship between prediagnosis alcohol use and a worse overall survival (OS) of Head and Neck Cancer (HNC). The polymorphisms of the ethanol-metabolizing genes, ADH1B and ALDH2, modified the relationship between prediagnosis alcohol use and the OS of HNC patients.
    Title: The Influence of Prediagnosis Alcohol Consumption and the Polymorphisms of Ethanol-Metabolizing Genes on the Survival of Head and Neck Cancer Patients.
Submit: New GeneRIF Correction See all GeneRIFs (239)

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

Associated conditions

Description Tests
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
GeneReviews: Not available
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
GeneReviews: Not available
Alcohol dependence
MedGen: C0001973 OMIM: 103780 GeneReviews: Not available
not available
Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.
GeneReviews: Not available
Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.
GeneReviews: Not available
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
GeneReviews: Not available
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
GeneReviews: Not available

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

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

Clone Names

  • DKFZp686C06125

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD-retinol dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables NAD-retinol dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alcohol dehydrogenase activity, zinc-dependent IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables alcohol dehydrogenase activity, zinc-dependent IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ethanol oxidation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in ethanol oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinoic acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
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(+)] ADH1B
Names
ADH, beta subunit
alcohol dehydrogenase 2 (class I), beta polypeptide
alcohol dehydrogenase subunit beta
aldehyde reductase
epididymis secretory protein Li 117
NP_000659.2
NP_001273579.1

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.

Genomic

  1. NG_011435.1 RefSeqGene

    Range
    5015..21445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000668.6 → NP_000659.2  all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 1

    See identical proteins and their annotated locations for NP_000659.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC097530, AF153821, AK301018, BC033009, BU687181
    Consensus CDS
    CCDS34033.1
    UniProtKB/Swiss-Prot
    P00325
    UniProtKB/TrEMBL
    V9HW50
    Related
    ENSP00000306606.8, ENST00000305046.13
    Conserved Domains (1) summary
    cd08299
    Location:3 → 375
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

  2. NM_001286650.2 → NP_001273579.1  all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' end and uses a downstream start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC097530, AF153821, AK301018, BC033009, BU687181
    Consensus CDS
    CCDS68761.1
    UniProtKB/Swiss-Prot
    P00325
    UniProtKB/TrEMBL
    D6RHZ6
    Related
    ENSP00000425998.2, ENST00000506651.5
    Conserved Domains (1) summary
    cd08299
    Location:1 → 335
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    99304971..99321401 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P00325.2 GenPept UniProtKB/Swiss-Prot:P00325

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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