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

    Gene ID: 125, updated on 9-Jul-2017
    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]
    Orthologs
    Location:
    4q23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 alcohol dehydrogenase 6 (class V) Neighboring gene alcohol dehydrogenase 1A (class I), alpha polypeptide Neighboring gene alcohol dehydrogenase 1C (class I), gamma polypeptide Neighboring gene uncharacterized LOC102723576

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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_000668.5NP_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:3375
      alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
      COG1062
      Location:8375
      FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]
    2. NM_001286650.1NP_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:1335
      alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
      COG1062
      Location:1335
      FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      99306387..99321442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      100203950..100219006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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