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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
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

  • 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
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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 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)
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