Sign in to NCBI
Format

Send to:

Choose Destination

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

Gene ID: 125, updated on 8-Jul-2018
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; Vega:OTTHUMG00000161413
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
See ADH1B in Genome Data Viewer
Location:
4q23
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (99306387..99321442, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100227527..100242572, 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

Go to nucleotide: Graphics FASTA GenBank

  • 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 Jun 15 11:32:44 2016

Related articles in PubMed

  1. Interaction between ADH1B*3 and alcohol-facilitating social environments in alcohol behaviors among college students of african descent. Desalu JM, et al. Am J Addict, 2017 Jun. PMID 28494133, Free PMC Article
  2. Association between alcohol dehydrogenase-2 gene polymorphism and esophageal cancer risk: a meta-analysis. Mao N, et al. World J Surg Oncol, 2016 Jul 22. PMID 27450204, Free PMC Article
  3. Phenome-Wide Association Study for Alcohol and Nicotine Risk Alleles in 26394 Women. Polimanti R, et al. Neuropsychopharmacology, 2016 Oct. PMID 27187070, Free PMC Article
  4. Excessive alcohol consumption increases mortality in later life: a genetic analysis of the health in men cohort study. Almeida OP, et al. Addict Biol, 2017 Mar. PMID 26644136
  5. Differential Effect of Initiating Moderate Red Wine Consumption on 24-h Blood Pressure by Alcohol Dehydrogenase Genotypes: Randomized Trial in Type 2 Diabetes. Gepner Y, et al. Am J Hypertens, 2016 Apr. PMID 26232779, Free PMC Article

See all (361) citations in PubMed

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. rs17033 of ADH1B and rs671 of ALDH2 SNPs were associated with GC risk and smoking habit may further modify the effect of rs671. Conversely, rs4147536 of ADH1B might have a protective role in our study population.
    Title: Polymorphisms in ADH1B and ALDH2 genes associated with the increased risk of gastric cancer in West Bengal, India.
  2. Serum triglycerides were positively associated with alcohol consumption in the ADH1B His/His group.
    Title: Modification of the Associations of Alcohol Intake With Serum Low-Density Lipoprotein Cholesterol and Triglycerides by ALDH2 and ADH1B Polymorphisms in Japanese Men.
  3. ADH1B and CDH1 polymorphisms predict prognosis in male patients with non-metastatic laryngeal cancer
    Title: ADH1B and CDH1 polymorphisms predict prognosis in male patients with non-metastatic laryngeal cancer.
  4. The single nuclear polymorphism rs1229984 in ADH1B results in a gain of function and hence an increase in enzyme activity resulting in the production of excess acetaldehyde. It is found in 19-91% of East Asians but in 0-10% of other populations.
    Title: The genetics of alcohol dependence and alcohol-related liver disease.
  5. Men carrying the ADH1B rs1229984 G>A polymorphism consumed significantly less alcohol than non-carriers.
    Title: Excessive alcohol consumption increases mortality in later life: a genetic analysis of the health in men cohort study.
  6. Alcohol dehydrogenase 1B (ADH1B) catalyzes the oxidation of alcohol to acetaldehyde.
    Title: Which alcohol use disorder criteria contribute to the association of ADH1B with alcohol dependence?
  7. study demonstrates that ADH1B*3 may protect college students of African descent against alcohol outcomes, although only in low alcohol-facilitating environments.
    Title: Interaction between ADH1B*3 and alcohol-facilitating social environments in alcohol behaviors among college students of african descent.
  8. In Japanese alcoholic men, ADH1B*1/*1 genotype increased the risk of thrombocytopenia.
    Title: Platelet Counts and Genetic Polymorphisms of Alcohol Dehydrogenase-1B and Aldehyde Dehydrogenase-2 in Japanese Alcoholic Men.
  9. In analysis using the ADH1B and ADH1C genotypes as instrumental variables for alcohol consumption, the hazards ratio for atrial fibrillation per genetic drink per day was 0.79 (0.44-1.41) among men and 0.64 (0.12-3.42) among women
    Title: Alcohol consumption and risk of atrial fibrillation: Observational and genetic estimates of association.
  10. enhanced Alcohol elimination rate in ADH1B*2 carriers and the increased salivary Acetaldehyde levels in ALDH2*1/*2 carriers among intoxicated alcoholics provide possible mechanisms explaining how each genetic polymorphism a ff ects the risk of alcoholism and upper aerodigestive tract cancer.
    Title: Effects of ADH1B and ALDH2 Genetic Polymorphisms on Alcohol Elimination Rates and Salivary Acetaldehyde Levels in Intoxicated Japanese Alcoholic Men.
Submit: New GeneRIF Correction See all GeneRIFs (210)

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
Alcohol dependence
MedGen: C0001973 OMIM: 103780 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
NHGRI GWA Catalog
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
NHGRI GWA Catalog
Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.
NHGRI GWA Catalog
Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.
NHGRI GWA Catalog
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
NHGRI GWA Catalog
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
NHGRI GWA Catalog

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686C06125

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alcohol dehydrogenase activity, zinc-dependent EXP
Inferred from Experiment
more info
 PubMed 
alcohol dehydrogenase activity, zinc-dependent IDA
Inferred from Direct Assay
more info
 PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
ethanol oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
ethanol oxidation TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
  
cytosol TAS
Traceable Author Statement
more info
  
nucleoplasm IDA
Inferred from Direct Assay
more info
  
plasma membrane IDA
Inferred from Direct Assay
more info
  
Preferred Names
alcohol dehydrogenase 1B
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

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
    4974..20029
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000668.5 → NP_000659.2  alcohol dehydrogenase 1B 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, DC392123
    Consensus CDS
    CCDS34033.1
    UniProtKB/Swiss-Prot
    P00325
    UniProtKB/TrEMBL
    V9HW50
    Related
    ENSP00000306606.8, OTTHUMP00000220192, ENST00000305046.12, OTTHUMT00000364853
    Conserved Domains (2) summary
    cd08299
    Location:3 → 375
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
    COG1062
    Location:8 → 375
    FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]

  2. NM_001286650.1 → NP_001273579.1  alcohol dehydrogenase 1B 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, DC392123
    Consensus CDS
    CCDS68761.1
    UniProtKB/Swiss-Prot
    P00325
    UniProtKB/TrEMBL
    D6RHZ6
    Related
    ENSP00000425998.2, OTTHUMP00000220194, ENST00000506651.5, OTTHUMT00000364856
    Conserved Domains (2) summary
    cd08299
    Location:1 → 335
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
    COG1062
    Location:1 → 335
    FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    99306387..99321442 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.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous
You are here: NCBI > Genes & Expression > Gene
Support Center