ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADH5provided by HGNC
Official Full Name: alcohol dehydrogenase 5 (class III), chi polypeptideprovided by HGNC
Primary source: HGNC:HGNC:253
See related: Ensembl:ENSG00000197894 MIM:103710; AllianceGenome:HGNC:253
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: FDH; ADHX; ADH-3; AMEDS; BMFS7; FALDH; GSNOR; GSH-FDH; HEL-S-60p
Summary: This gene encodes 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. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]
Expression: Ubiquitous expression in endometrium (RPKM 69.1), kidney (RPKM 68.7) and 25 other tissues See more
Orthologs: mouse 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 (99070978..99088788, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (102385880..102403688, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (99992129..100009939, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effects of the major formaldehyde catalyzer ADH5 on phenotypes of fanconi anemia zebrafish model.
Title: Effects of the major formaldehyde catalyzer ADH5 on phenotypes of fanconi anemia zebrafish model.
GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation.
Title: GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation.
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
Title: Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
[Aldehyde degradation deficiency (ADD) syndrome: discovery of a novel fanconi anemia-like inherited BMF syndrome due to combined ADH5/ALDH2 deficiency].
Title: [Aldehyde degradation deficiency (ADD) syndrome: discovery of a novel fanconi anemia-like inherited BMF syndrome due to combined ADH5/ALDH2 deficiency].
Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans.
Title: Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans.
Mitophagy contributes to alpha-tocopheryl succinate toxicity in GSNOR-deficient hepatocellular carcinoma.
Title: Mitophagy contributes to alpha-tocopheryl succinate toxicity in GSNOR-deficient hepatocellular carcinoma.
nNOS/GSNOR interaction contributes to skeletal muscle differentiation and homeostasis in humans and mice.
Title: nNOS/GSNOR interaction contributes to skeletal muscle differentiation and homeostasis.
Our data indicates that nebivolol has no effect on GSNOR activity, nor does nebivolol inhibit thioredoxin reductase, two of the major protein denitrosylases.
Title: Hiding in Plain Sight: Nebivolol Exhibits Compelling Tocolytic Properties.
We demonstrated for the first time that rs1154402C>G change in in intron 1 of ADH5 might create a silencer, repressing ADH1A transcription via long-range interaction with ADH1A promoter
Title: Genetic variant repressing ADH1A expression confers susceptibility to esophageal squamous-cell carcinoma.
Data (including data from studies using knockout and transgenic mice) suggest that obesity and diabetes are accompanied by decreases in GSNOR activity in hepatocytes engendering nitrosative stress; obesity promotes S-nitrosylation of lysosomal proteins in liver, thereby impairing lysosomal enzyme activities and compromising autophagy.
Title: S-Nitrosoglutathione Reductase Dysfunction Contributes to Obesity-Associated Hepatic Insulin Resistance via Regulating Autophagy.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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

Associated conditions

Description	Tests
AMED syndrome, digenic MedGen: C5436906 OMIM: 619151 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of smoking behaviours among Bangladeshi adults. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

SHGC-67905 (e-PCR)
- UniSTS:35117

WI-14387 (e-PCR)
- UniSTS:68660

WI-18933 (e-PCR)
- UniSTS:23219

ADH5_690 (e-PCR)
- UniSTS:276977

ADH5_V68 (e-PCR)
- UniSTS:276977

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables S-(hydroxymethyl)glutathione dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables S-(hydroxymethyl)glutathione dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables S-(hydroxymethyl)glutathione dehydrogenase [NAD(P)+] activity	IBA Inferred from Biological aspect of Ancestor more info
enables S-(hydroxymethyl)glutathione dehydrogenase [NAD(P)+] activity	TAS Traceable Author Statement more info	PubMed
enables S-nitrosoglutathione reductase (NADH) activity	IEA Inferred from Electronic Annotation more info
enables alcohol dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables electron transfer activity	TAS Traceable Author Statement more info	PubMed
enables fatty acid binding	IDA Inferred from Direct Assay more info	PubMed
enables formaldehyde dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
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 fatty acid omega-oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in formaldehyde catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in respiratory system process	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to nitrosative stress	IEA Inferred from Electronic Annotation more info
involved_in response to redox state	IDA Inferred from Direct Assay more info	PubMed
involved_in retinoid metabolic process	IEA Inferred from Electronic Annotation 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
located_in mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alcohol dehydrogenase class-3

Names: S-(hydroxymethyl)glutathione dehydrogenase; S-nitrosoglutathione reductase; alcohol dehydrogenase (class III), chi polypeptide; alcohol dehydrogenase class chi chain; alcohol dehydrogenase class-III; epididymis secretory sperm binding protein Li 60p; formaldehyde dehydrogenase; glutathione-dependent formaldehyde dehydrogenase

NP_000662.3

EC 1.1.1.1

EC 1.1.1.284

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.