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

Gene ID: 125, updated on 4-Dec-2019

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

Genomic context

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See ADH1B in Genome Data Viewer
Location:
4q23
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (99304971..99321401, 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

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. 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
  2. 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
  3. Association Between the rs1229984 Polymorphism in the Alcohol Dehydrogenase 1B Gene and Risk for Restless Legs Syndrome. Jiménez-Jiménez FJ, et al. Sleep, 2017 Dec 1. PMID 29045753
  4. The roles of alcohol dehydrogenase in patients with atrial fibrillation. Hu YF, et al. Pacing Clin Electrophysiol, 2017 Dec. PMID 28975638
  5. Interaction between the ADH1B*3 allele and drinking motives on alcohol use among Black college students. Zaso MJ, et al. Am J Drug Alcohol Abuse, 2018. PMID 28662358, Free PMC Article

See all (380) 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. Findings support medium to large and unique associations of ALDH2, ADH1B, and ADH1C with Alcohol Use Disorder in East Asians.
    Title: Meta-Analysis on Associations of Alcohol Metabolism Genes With Alcohol Use Disorder in East Asians.
  2. The combination of ADH1B*1/*1 and ALDH2*1/*2 markedly increased the risk of esophageal distinct iodine-unstained lesions (DIULs) >/=5 mm (39.3 [10.6-146]). Japanese alcohol-dependent women shared several common risk factors for esophageal squamous cell neoplasia with alcohol-dependent men, but with considerably different magnitudes.
    Title: Endoscopic screening using esophageal iodine staining and genotypes of ADH1B and ALDH2 in Japanese alcohol-dependent women.
  3. This first study of polymorphisms in Colombian patients diagnosed with cirrhosis and/or HCC showed genotypes ADH1B*1/1, ADH1C*1/1 and CYP2E1*C/C as the most frequent
    Title: Polymorphisms in alcohol dehydrogenase (ADH1) and cytochrome p450 2E1 (CYP2E1) genes in patients with cirrhosis and/or hepatocellular carcinoma
  4. The Rs671 within ALDH2 but not rs1229984 within ADH1B was associated with lower HDL-C levels in Japanese males.
    Title: ALDH2 Polymorphism rs671, but Not ADH1B Polymorphism rs1229984, Increases Risk for Hypo-HDL-Cholesterolemia in a/a Carriers Compared to the G/G Carriers.
  5. alcohol consumption was shown to increase the risk of postmenopausal breast cancer. This association was not significantly modified by common single nucleotide polymorphisms in ADH1B and ADH1C, neither in overall breast cancer nor in hormone receptor-defined subtypes.
    Title: Alcohol drinking, ADH1B and ADH1C genotypes and the risk of postmenopausal breast cancer by hormone receptor status: the Netherlands Cohort Study on diet and cancer.
  6. The missense variant rs1229984T is statistically associated with the risk of developing PD mainly in women.
    Title: Association between the missense alcohol dehydrogenase rs1229984T variant with the risk for Parkinson's disease in women.
  7. Distribution of ADH1B genotypes predisposed to enhanced alcohol consumption in the Czech Roma/Gypsy population.
    Title: Distribution of ADH1B genotypes predisposed to enhanced alcohol consumption in the Czech Roma/Gypsy population.
  8. The results of this study demonstrated that the slow-metabolizing ADH1B Arg/Arg genotype and inactive heterozygous ALDH2 Glu/Lys genotype were positive determinants for the development of fatty liver diagnosed by ultrasonography in alcohol-dependent Japanese men.
    Title: Slow-metabolizing ADH1B and inactive heterozygous ALDH2 increase vulnerability to fatty liver in Japanese men with alcohol dependence.
  9. No evidence of a significant association of ADH1B polymorphism (rs1229984) with gastric cancer was observed.
    Title: Association between ALDH2 and ADH1B polymorphisms, alcohol drinking and gastric cancer: a replication and mediation analysis.
  10. results suggest an association between rs1229984 SNP in the . alcohol-dehydrogenase 1B (ADH1B) gene and the risk for restless leg syndrome
    Title: Association Between the rs1229984 Polymorphism in the Alcohol Dehydrogenase 1B Gene and Risk for Restless Legs Syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (226)

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
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

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 BioSystems

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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
alcohol dehydrogenase activity, zinc-dependent IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
alcohol dehydrogenase activity, zinc-dependent IDA
Inferred from Direct Assay
more info
 PubMed 
retinol dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
retinol dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
ethanol oxidation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
ethanol oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
ethanol oxidation TAS
Traceable Author Statement
more info
  
retinoic acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
retinoid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
retinol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
  

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 (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_001286650.2 → 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 (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 109.20190905

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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