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

Gene ID: 125, updated on 2-Nov-2024

Summary

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
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Genomic context

See ADH1B in Genome Data Viewer
Location:
4q23
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99304971..99321401, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102619785..102636182, complement)
RS_2024_09 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

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alcohol dependence
MedGen: C0001973 OMIM: 103780 GeneReviews: Not available
not available

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp686C06125

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alcohol dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables alcohol dehydrogenase (NAD+) activity 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 protein binding IPI
Inferred from Physical Interaction
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

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_000668.6NP_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:3375
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
  2. NM_001286650.2NP_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:1335
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)