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

    Gene ID: 125, updated on 20-Apr-2024

    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; AllianceGenome:HGNC:250
    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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    Location:
    4q23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99304971..99321401, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102619785..102636182, complement)
    105.20220307 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 NANOG hESC enhancer GRCh37_chr4:100126223-100126724 Neighboring gene ADH6 promoter Neighboring gene alcohol dehydrogenase 6 (class V) Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:100207424-100208623 Neighboring gene ADH1A promoter Neighboring gene alcohol dehydrogenase 1A (class I), alpha polypeptide Neighboring gene NANOG hESC enhancer GRCh37_chr4:100231513-100232014 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:100238861-100240060 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. Racial/ethnic discrimination, ADH1B*3, and coping-motivated drinking among Black college students. Zaso MJ, et al. Am J Addict, 2022 Sep. PMID 35748313, Free PMC Article
    2. Association of ADH1B polymorphism and alcohol consumption with increased risk of intracerebral hemorrhagic stroke. Lin CH, et al. J Transl Med, 2021 May 29. PMID 34051793, Free PMC Article
    3. Variants in urate transporters, ADH1B, GCKR and MEPE genes associate with transition from asymptomatic hyperuricaemia to gout: results of the first gout versus asymptomatic hyperuricaemia GWAS in Caucasians using data from the UK Biobank. Sandoval-Plata G, et al. Ann Rheum Dis, 2021 Sep. PMID 33832965
    4. 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
    5. Further evidence supporting a potential role for ADH1B in obesity. Morales LD, et al. Sci Rep, 2021 Jan 21. PMID 33479282, Free PMC Article

    See all (411) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interaction of genetic variation at ADH1B and MLXIPL with alcohol consumption for elevated serum urate level and gout among people of European ethnicity.
      Title: Interaction of genetic variation at ADH1B and MLXIPL with alcohol consumption for elevated serum urate level and gout among people of European ethnicity.
    2. Association of TOP2A and ADH1B with lipid levels and prognosis in patients with lung adenocarcinoma and squamous cell carcinoma.
      Title: Association of TOP2A and ADH1B with lipid levels and prognosis in patients with lung adenocarcinoma and squamous cell carcinoma.
    3. Alcohol dehydrogenase-1B represses the proliferation, invasion and migration of breast cancer cells by inactivating the mitogen-activated protein kinase signalling pathway.
      Title: Alcohol dehydrogenase-1B represses the proliferation, invasion and migration of breast cancer cells by inactivating the mitogen-activated protein kinase signalling pathway.
    4. Relationship between esophageal squamous cell carcinoma risk and alcohol-related ALDH2 and ADH1B polymorphisms: Evidence from a meta-analysis and Mendelian randomization analysis.
      Title: Relationship between esophageal squamous cell carcinoma risk and alcohol-related ALDH2 and ADH1B polymorphisms: Evidence from a meta-analysis and Mendelian randomization analysis.
    5. Genetic influences on alcohol flushing in East Asian populations.
      Title: Genetic influences on alcohol flushing in East Asian populations.
    6. ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.
      Title: ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.
    7. Efficacy of Low-Dose Aspirin in Colorectal Cancer Risk Prevention is Dependent on ADH1B and ALDH2 Genotype in Japanese Familial Adenomatous Polyposis Patients.
      Title: Efficacy of Low-Dose Aspirin in Colorectal Cancer Risk Prevention is Dependent on ADH1B and ALDH2 Genotype in Japanese Familial Adenomatous Polyposis Patients.
    8. Associations of alcohol intake with subclinical carotid atherosclerosis in 22,000 Chinese adults.
      Title: Associations of alcohol intake with subclinical carotid atherosclerosis in 22,000 Chinese adults.
    9. Effects of the genetic variants of alcohol-metabolizing enzymes on lipid levels in Asian populations: a systematic review and meta-analysis.
      Title: Effects of the genetic variants of alcohol-metabolizing enzymes on lipid levels in Asian populations: a systematic review and meta-analysis.
    10. Association of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with Alcohol abuse and Alcoholic Cirrhosis in People Living in Northeast Vietnam.
      Title: Association of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with Alcohol abuse and Alcoholic Cirrhosis in People Living in Northeast Vietnam.
    Submit: New GeneRIF Correction See all GeneRIFs (261)

    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

    EBI GWAS Catalog

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

    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 alcohol dehydrogenase (NAD+) activity, zinc-dependent IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alcohol dehydrogenase (NAD+) activity, zinc-dependent 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 zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 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
      A8MYN5, B4DRS9, B4DVC3, P00325, Q13711, Q4ZGI9, Q96KI7
      UniProtKB/TrEMBL
      E9PCG0, F5HB16, 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/TrEMBL
      A0A0D9SFH8, D6RHZ6, E9PCG0, F5HB16
      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: GCF_000001405.40-RS_2023_10

    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
      99304971..99321401 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      102619785..102636182 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00325.3 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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