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ADH6 alcohol dehydrogenase 6 (class V) [ Homo sapiens (human) ]

Gene ID: 130, updated on 12-Oct-2019

Summary

Official Symbol
ADH6provided by HGNC
Official Full Name
alcohol dehydrogenase 6 (class V)provided by HGNC
Primary source
HGNC:HGNC:255
See related
Ensembl:ENSG00000172955 MIM:103735
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
ADH-5
Summary
This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in liver (RPKM 139.0), duodenum (RPKM 20.7) and 2 other tissues See more
Orthologs

Genomic context

See ADH6 in Genome Data Viewer
Location:
4q23
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (99202639..99219246, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100123795..100140403, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507053 Neighboring gene proliferating cell nuclear antigen pseudogene 1 Neighboring gene proliferating cell nuclear antigen pseudogene 2 Neighboring gene ADH6 promoter Neighboring gene ADH1A promoter Neighboring gene alcohol dehydrogenase 1A (class I), alpha polypeptide Neighboring gene ADH1B promoter Neighboring gene alcohol dehydrogenase 1B (class I), beta polypeptide

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
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
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alcohol dehydrogenase (NAD) activity IDA
Inferred from Direct Assay
more info
PubMed 
alcohol dehydrogenase activity, zinc-dependent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retinol dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ethanol oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ethanol oxidation IDA
Inferred from Direct Assay
more info
PubMed 
ethanol oxidation TAS
Traceable Author Statement
more info
 
response to ethanol IDA
Inferred from Direct Assay
more info
PubMed 
retinoic acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retinol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
alcohol dehydrogenase 6
Names
aldehyde reductase
NP_000663.1
NP_001095940.1

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_000672.4NP_000663.1  alcohol dehydrogenase 6 isoform 2

    See identical proteins and their annotated locations for NP_000663.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 3' sequence including the coding region, as compared to variant 1. The resulting isoform (2) has a distinct and shorter C-terminus, as compared to isoform 1.
    Source sequence(s)
    AK092768, AP002026, BC039065
    Consensus CDS
    CCDS3647.1
    UniProtKB/Swiss-Prot
    P28332
    UniProtKB/TrEMBL
    Q8IUN7
    Related
    ENSP00000237653.7, ENST00000237653.11
    Conserved Domains (1) summary
    cd08299
    Location:3367
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
  2. NM_001102470.2NP_001095940.1  alcohol dehydrogenase 6 isoform 1

    See identical proteins and their annotated locations for NP_001095940.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK092768, AP002026, BC039065
    Consensus CDS
    CCDS43255.1
    UniProtKB/Swiss-Prot
    P28332
    UniProtKB/TrEMBL
    A0A0A0MS56, Q8IUN7
    Related
    ENSP00000378359.2, ENST00000394899.6
    Conserved Domains (2) summary
    cd08299
    Location:3375
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
    COG1062
    Location:8373
    FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]

RNA

  1. NR_132990.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK092768, AK316326, AP002026

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    99202639..99219246 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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