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

GeneID: 125 updated 25-Nov-2009

[Top][Help]Summary

Official Symbol
ADH1Bprovided by HGNC
Official Full Name
alcohol dehydrogenase 1B (class I), beta polypeptideprovided by HGNC
Primary Source
HGNC:250
See related
Ensembl:ENSG00000196616; HPRD:00065; 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; DKFZp686C06125; ADH1B
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. [provided by RefSeq]

[Top][Help]Genomic regions, transcripts, and products

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. ADH1B was not associated with alcohol expectancies or drinking behavior.
PubMed 2. ADH1B genotypes were not associated with and did not modify the effect of alcohol on biochemical tests or risk of liver disease.
PubMed 3. Despite sufficient statistical power, there was no significant impact of ADH1B on the risk of breast cancer.
PubMed 4. Alcohol drinkers carrying both ADH2 G allele and ALDH2 A allele have a higher risk of developing esophageal cancer.
PubMed 5. ADH1B polymorphisms are associated with alcohol and tobacco consumption for younger aged esophageal squamous cell carcinoma.
PubMed 6. Decreased alcohol dehydrogenase in keratoconus corneal fibroblasts represents a strong marker and possible mediator of keratoconus.
PubMed 7. Alleles of ADH7 SNPs were associated with the early stages of alcohol metabolism, with additional effects in the ADH1A, ADH1B and ADH4 regions.
PubMed 8. The allele frequency in Koreans were 80.3% for the ADH2
PubMed 9. Findings indicate that functional polymorphism of the gene coding for the ALDH enzyme affects the propensity to develop alcohol dependence. and decreasing the rate of metabolism respectively, thus interacting additively but not synergistically.
PubMed 10. review on recent advances in genomic studies of human ADH1B families and alcoholism.
PubMed 11. Current data lend support to a role of polymorphisms ADH1B and ALDH2 combined with alcohol consumption in cancer
PubMed 12. ADH1B-Arg48His polymorphism affects both alcohol-related flushing in Europeans and alcohol intake.
PubMed 13. ALDH2 and ADH1B polymorphisms were associated with changes in blood catecholamine levels and cardiovascular measures after alcohol ingestion.
PubMed 14. The fast metabolizing ADH1b 47his allele seemed to be associated with nondrinking in a Caucasian population
PubMed 15. ADH1b47his allele frequency is different for European regions.
PubMed 16. A high frequency of the ADH1B*47His allele is strongly correlated with certain eastern ethnic groups.
PubMed 17. The ADH1B*47His polymorphism reaches high frequencies only in western and eastern Asia
PubMed 18. Polymorphisms of the ADH2 and ALDH2 genes are significantly associated with colorectal cancer risk in Chinese males
PubMed 19. Variants of this alcohol-metabolizing enzyme appeared in the relation to alcoholic chronic pancreatitis
PubMed 20. Genetic polymorphism of the gene is substantially involving in individual variation of susceptibility to alcohol dependence.
PubMed 21. Alcohol consumption and polymorphisms in the CYP2E1, ADH1B and ALDH2 genes are important risk factors for esophageal squamous cell carcinoma in Chinese males living in Gansu Province, China.
PubMed 22. men and women with ADH1B slow vs fast alcohol degradation drank more alcohol and had a higher risk of everyday drinking, heavy drinking, excessive drinking and of alcoholism.
PubMed 23. Single Nucleotide Polymorphism in ADH1B gene is associated with upper aerodigestive cancer.
PubMed 24. describes demographic, alcohol use, country of origin, family history of alcohol dependence, and ALDH2 and ADH1b variables to elucidate response to alcohol amont Chinese and Korean-American college students
PubMed 25. The low activity ALDH2*2 allele was significantly associated with increased risk for oesophageal cancer amongst the Black subjects
PubMed 26. In Japanese men with alcohol dehydrogenase 2*1/1 genotype there was a higher fasting plasma glucose level compared to those without the genotype.
PubMed 27. the interplay of the ADH1B and ALDH2 genotypes, in conjunction with a behaved drinking habit and a practiced drinking pattern, along with continued tobacco consumption, plays an important pathogenic role in modulating esophageal SCC risk
PubMed 28. erythema following alcohol exposure is alcohol type specific, has a pharmacogenetic basis related to ADHIB haplotype
PubMed 29. Observational study, meta-analysis, and HuGE review of genotype prevalence, gene-disease association, and gene-environment interaction. (HuGE Navigator)
PubMed 30. Observational study of genetic testing. (HuGE Navigator)
PubMed 31. Meta-analysis of gene-disease association. (HuGE Navigator)
PubMed 32. Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
PubMed 33. Observational study of genotype prevalence and gene-environment interaction. (HuGE Navigator)
PubMed 34. Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator)
PubMed 35. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
PubMed 36. Observational study of genotype prevalence. (HuGE Navigator)
PubMed 37. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
PubMed 38. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
PubMed 39. Observational study of gene-disease association. (HuGE Navigator)
PubMed 40. Polymorphisms in ADH1B is associated with breast cancer
PubMed 41. ADH2 and ALDH2 genotypes are associated with esophageal cancer risk. ADH2 1 allele and ALDH2 2 allele carriers have a much higher risk of developing esophageal cancer, especially among alcohol drinkers.
PubMed 42. the eNOS gene T-786C mutation and the fast form of ADH2 Arg47His polymorphism may have an additive interaction on the risk of premature coronary artery disease in Chinese population
PubMed 43. This study suggests that the ALDH2*A allele status may correlate with variations in alcohol consumption patterns among Jews, independent of the effect of ADH1B genotype.
PubMed 44. Alcohol dehydrogenase 2 genotype and allelic variants are not associated with the risk for essential tremor.
PubMed 45. Higher levels of ethanol persisted in the blood for longer periods in ADH1B*1/*1 carriers (n = 25) than in ADH1B*2 allele carriers after adjustment for the amount and time of the preceding alcohol consumption and body weight
PubMed 46. increased risk of fetal alcohol syndrome for the maternal and possibly fetal ADH1B/ADH1B genotype
PubMed 47. Risk of cerebral infarction is increased by the ADH2*1 allele.
PubMed 48. Effect modification suggested of association between alcohol consumption and breast cancer risk by ADH1B genotype
PubMed 49. polymorphisms in ADH1C and ADH1B may have roles in the risk of alcoholism
PubMed 50. Sructural aspects that influence dimer-tetramer formation
PubMed 51. Polymorphisms of the alcohol metabolism-related ADH2 gene are significantly different in Korean patients with alcoholism and Korean control subjects without alcoholism.
PubMed 52. The alcohol-BP relationship was significantly stronger in men with ADH21/21 than in men with ADH21/22 or 22/22 in this Japanese rural population.
PubMed 53. Heterozygous alcohol dehydrogenase 2 genotype (ADH2*1/2*2) exhibited an association with the scant pancreatitis subgroup (P = 0.02).
PubMed 54. No effects of the ADH1B*47His alleles on in vivo ethanol metabolism were observed. This implies that there is a major determinant of variation for in vivo alcohol metabolism in the ADH region that is not accounted for by this polymorphism.
PubMed 55. There is no significant interaction between alcohol consumption and ADH2 genotype.
PubMed 56. The metabolism of all-trans- and 9-cis-retinol/ retinaldehyde has been investigated with focus on the activities of human, mouse and rat alcohol dehydrogenase 2 (ADH2), an intriguing enzyme with apparently different functions in human and rodents.
PubMed 57. 47Arg polymorphism in the ADH2 may act to suppress osteophyte formation unaffected by disc degeneration
PubMed 58. There was a gene-environment interaction between the ADH2 polymorphism, alcohol consumption, and breast cancer risk. Breast cancer risk associated with alcohol consumption vary with the ADH2 polymorphism, probably due to differences in EtOH metabolism.
PubMed 59. Polymorphisms of alcohol-metabolizing enzymes: analyses of mutations on the CYP2E1, ADH2, ADH3 and ALDH2 genes in a Mexican-American population living in the Los Angeles area.
PubMed 60. The ADH1B gene may interact with the dopamine D2 receptor (DRD2) gene in the development of anxiety-depressive alcohol dependence in the Taiwan Han Chinese population.
PubMed 61. interaction between ALDH2 and ADH2 polymorphisms may have a role in colorectal cancer in Japan
PubMed 62. Results suggest that ADH1B polymorphisms play a pivotal role on esophageal cancer and that the effect of these polymorphisms was modified by the amount of alcohol consumed.
PubMed 63. Data are consistent with the hypothesis that the maternal ADH1B*3 allele provides some protection to the fetus from prenatal alcohol exposure.
PubMed 64. ADH1B*2 allele has been associated with lowr rates of alcohol dependence.
PubMed 65. findings suggest that the alcohol dehydrogenase IB and IC genes are regulated by epigenetic mechanisms in human hepatoma cells
PubMed 66. Results suggest, in this sample of Trinidadians, that the ADH1B(*)3 allele is associated with protection from the development of alcoholism and enhanced risk for elevated serum ALT levels in those individuals who do become alcohol dependent.
PubMed 67. The ADH2*2 allele protects against alcohol dependence severity in Jewish samples.
PubMed 68. Polymorphism is not associated with laryngeal cancer risk in Caucasians.
PubMed 69. Mutations that contribute to the risk of alcoholism affect European, Chinese, and Japanese populations differently.
PubMed 70. Genetic polymorphisms of ADH1B is associated with oral and pharyngeal squamous cell carcinoma
PubMed 71. Low levels of alcohol are associated with a modest increase in breast cancer risk that is not altered by known functional allelic variants of the ADH1B gene.

[Top][Help]General gene information

Markers

D8S2279(e-PCR)
Links: UniSTS:473907
STS-X15447(e-PCR)
Links: UniSTS:71006
D10S16(e-PCR)
Links: UniSTS:155756
D4S2817(e-PCR)
Links: UniSTS:34159
ADH1B_V67(e-PCR)
Links: UniSTS:477321
GDB:170161(e-PCR)
Links: UniSTS:154770
GDB:187387(e-PCR)
Links: UniSTS:155548
G60286(e-PCR)
Links: UniSTS:137391
RH119293(e-PCR)
Links: UniSTS:133855
SHGC-59546(e-PCR)
Links: UniSTS:71911
SHGC4-136(e-PCR)
Links: UniSTS:72940
SHGC-50678(e-PCR)
Links: UniSTS:31225

Phenotypes

Alcoholism, susceptibility to
MIM: 103780

Genotypes

See ADH1B SNP Genotype Report
See ADH1B SNP Geneview Report
See ADH1B SNP Variation Viewer Report Variation View Link

Homology

Homologs of the ADH1B gene The ADH1B gene is conserved in chimpanzee, chicken, A.thaliana, and rice.

Pathways

KEGG pathway: Drug metabolism - cytochrome P450
00982
KEGG pathway: Fatty acid metabolism
00071
KEGG pathway: Glycolysis / Gluconeogenesis
00010
KEGG pathway: Metabolic pathways
01100
KEGG pathway: Metabolism of xenobiotics by cytochrome P450
00980
KEGG pathway: Retinol metabolism
00830
KEGG pathway: Tyrosine metabolism
00350
Reactome Event:Biological oxidations
REACT_13433

Gene Ontology Provided by GOA

Process Evidence
ethanol oxidation IDA PubMed
oxidation reduction IEA   
Component Evidence
cytoplasm IEA   

[Top][Help]General protein information

Preferred Names
class I alcohol dehydrogenase, beta subunit
Names
class I alcohol dehydrogenase, beta subunit
ADH, beta subunit
aldehyde reductase
alcohol dehydrogenase 2 (class I), beta polypeptide
NP_000659.2
EC 1.1.1.1

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

  1. NG_011435.1 RefSeqGene

    Range
    5000..20045
    Download
    GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000668.4NP_000659.2  class I alcohol dehydrogenase, beta subunit

    Source sequence(s)
    AF153821,AI702614,BC033009,BP317995,BX641105
    Consensus CDS
    CCDS34033.1
    UniProtKB/Swiss-Prot
    P00325
    Conserved Domains (3) summary
    COG1062
    Location:8375
    Blast Score: 1222
    AdhC; Zn-dependent alcohol dehydrogenases, class III [Energy production and conversion]
    pfam08240
    Location:36161
    Blast Score: 276
    ADH_N; Alcohol dehydrogenase GroES-like domain
    cl09931
    Location:192334
    Blast Score: 290
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: Build 37.1

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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000004.11

    Range
    100227526..100242571, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NT_016354.19 

    Range
    24775247..24790292, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000047.1

    Range
    97524702..97539747, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_922162.1 

    Range
    47349676..47364721, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000136.1

    Range
    95965327..95980373, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_001838915.1 

    Range
    24726877..24741923, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AC097530.3  (38967..53996)   None
  genomic   AF040967.1   AAB96912.1
  genomic   CH471057.1   EAX06095.1
       EAX06096.1
       EAX06097.1
       EAX06098.1
  genomic   DQ017646.1   AAY22180.1
  genomic   L38290.1   AAB48003.1
  genomic   M24308.1   AAB59496.1
  genomic   M24316.1   AAB59496.1
  genomic   M32657.1   AAA52277.1
  genomic   X15447.1   CAA33487.1
  mRNA   AF153821.1   AAD37446.1
  mRNA   AI702614.1   None
  mRNA   AK299409.1   BAG61391.1
  mRNA   AK301018.1   BAG62635.1
  mRNA   AK303945.1   BAG64873.1
  mRNA   AK304396.1   BAG65231.1
  mRNA   AK316501.1   BAH14872.1
  mRNA   BC033009.2   AAH33009.1
  mRNA   BP317995.1   None
  mRNA   BX641105.1   None
  mRNA   BX647469.1   None
  mRNA   D00137.1   BAA00084.1
  mRNA   M21692.1   AAA51592.1
  mRNA   M24317.1   AAA51884.1
  mRNA   X03350.1   CAA27056.1
Protein Accession   Links
P00325.2   GenPept   UniProtKB/Swiss-Prot:P00325

[Top][Help]Additional Links