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

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; AllianceGenome:HGNC:255
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: all
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Genomic context

Location:: 4q23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (99202639..99219246, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (102517454..102534061, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (100123796..100140403, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Local structural differences between human class V ADH and other human ADHs includes a for class V ADH unique and conserved Lys51, a position directly involved in the catalytic mechanism in other ADHs, and nine other class V ADH-specific residues.
Title: Computational studies of human class V alcohol dehydrogenase - the odd sibling.
Results show that polymorphism of ADH6 gene leads to heavy drinking in women.
Title: Association of alcohol dehydrogenase polymorphisms and life-style factors with excessive alcohol intake within the Spanish population (EPIC-Spain).
common ADH variants conferred risk for both schizophrenia in African-Americans and autism in European-Americans.
Title: Association between common alcohol dehydrogenase gene (ADH) variants and schizophrenia and autism.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetical genomic determinants of alcohol consumption in rats and humans.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication. EBI GWAS Catalog EBI GWAS CatalogPubMed
Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G33392 (e-PCR)
- UniSTS:11897

SHGC-12728 (e-PCR)
- UniSTS:81380

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 zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in retinoic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
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	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: alcohol dehydrogenase 6

Names: aldehyde reductase

NP_000663.1

EC 1.1.1.1

NP_001095940.1

EC 1.1.1.1

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.

mRNA and Protein(s)

NM_000672.4 → NP_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

A0A0A0MS56, B3KS45, P28332, Q58F53

Related

ENSP00000237653.7, ENST00000237653.11

Conserved Domains (1) summary

cd08299
Location:3 → 367

alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
NM_001102470.2 → NP_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:3 → 375

alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

COG1062
Location:8 → 373

FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]

RNA

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