ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADH1Aprovided by HGNC
Official Full Name: alcohol dehydrogenase 1A (class I), alpha polypeptideprovided by HGNC
Primary source: HGNC:HGNC:249
See related: Ensembl:ENSG00000187758 MIM:103700
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: ADH1
Summary: This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]
Expression: Biased expression in liver (RPKM 735.3) and fat (RPKM 36.3) See more
Orthologs: all

Genomic context

Location:: 4q23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	4	NC_000004.12 (99276369..99290985, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (100197523..100212185, 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
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 FunctionsWhat's a GeneRIF?

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.
High ADH expression is associated with Prostate Cancer.
Title: The Diagnostic Significance of Serum Alcohol Dehydrogenase Isoenzymes and Aldehyde Dehydrogenase Activity in Prostate Cancer Patients.
Results suggest a potential role of alcohol dehydrogenase (ADH) class I as a marker for renal cell carcinoma (RCC).
Title: The diagnostic significance of serum alcohol dehydrogenase isoenzymes and aldehyde dehydrogenase activity in renal cell cancer patients.
Data indicate that the up-regulation of aldehyde dehydrogenase-1 (ALDH1) after neoadjuvant chemotherapy (NAC) predicts poor survival in locally advanced breast cancer.
Title: Changes in aldehyde dehydrogenase-1 expression during neoadjuvant chemotherapy predict outcome in locally advanced breast cancer.
Unde-rexpression of the ADH1 gene, which influences the transformation of the extracellular matrix, plays a probable role in the etiology of uterine fibroid.
Title: The role of the alcohol dehydrogenase-1 (ADH1) gene in the pathomechanism of uterine leiomyoma.
high levels of ADH1 transcription are implicated in fluconazole resistance in C. albicans and that the mRNA expression levels of ADH1 are positively correlated with those of CDR1, CDR2 and FLU1.
Title: Alcohol dehydrogenase I expression correlates with CDR1, CDR2 and FLU1 expression in Candida albicans from patients with vulvovaginal candidiasis.
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.
High ADH1 is associated with endometrial cancer.
Title: The activity of class I, II, III, and IV alcohol dehydrogenase isoenzymes and aldehyde dehydrogenase in endometrial cancer.
ADH1A variation predisposes to personality traits and substance dependence
Title: ADH1A variation predisposes to personality traits and substance dependence.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

NHGRI GWAS Catalog

Description
Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication. NHGRI GWA Catalog NHGRI GWA 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)

Pathways from BioSystems

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Abacavir metabolism, organism-specific biosystem (from REACTOME)
Abacavir metabolism, organism-specific biosystemAbacavir activation proceeds steps of phosphorylation, deamination to yield carbovir monophosphate, and phosphorylation of the latter compound to yield the triphosphate. In addition, abacavir can be ...
Abacavir transport and metabolism, organism-specific biosystem (from REACTOME)
Abacavir transport and metabolism, organism-specific biosystemAbacavir is a nucleoside analogue reverse transcriptase inhibitor with antiretroviral activity, widely used in combination with other drugs to treat HIV-1 infection (Yuen et al. 2008). Its uptake acr...
Biological oxidations, organism-specific biosystem (from REACTOME)
Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
Chemical carcinogenesis, organism-specific biosystem (from KEGG)
Chemical carcinogenesis, organism-specific biosystemIt has been estimated that exposure to environmental chemical carcinogens may contribute significantly to the causation of a sizable fraction, perhaps a majority, of human cancers. Human carcinogens ...
Chemical carcinogenesis, conserved biosystem (from KEGG)
Chemical carcinogenesis, conserved biosystemIt has been estimated that exposure to environmental chemical carcinogens may contribute significantly to the causation of a sizable fraction, perhaps a majority, of human cancers. Human carcinogens ...
Drug metabolism - cytochrome P450, organism-specific biosystem (from KEGG)
Drug metabolism - cytochrome P450, organism-specific biosystem
Drug metabolism - cytochrome P450
Drug metabolism - cytochrome P450, conserved biosystem (from KEGG)
Drug metabolism - cytochrome P450, conserved biosystem
Drug metabolism - cytochrome P450
Ethanol oxidation, organism-specific biosystem (from REACTOME)
Ethanol oxidation, organism-specific biosystemEthanol and related alcohols can be ingested as part of the diet and are formed by microorganisms in the intestinal tract. Ethanol oxidation to acetate occurs primarily in liver cells in a multistep ...
Fatty Acid Omega Oxidation, organism-specific biosystem (from WikiPathways)
Fatty Acid Omega Oxidation, organism-specific biosystemDegradation of dodecanoate.
Fatty acid degradation, organism-specific biosystem (from KEGG)
Fatty acid degradation, organism-specific biosystem
Fatty acid degradation
Fatty acid degradation, conserved biosystem (from KEGG)
Fatty acid degradation, conserved biosystem
Fatty acid degradation
Glycolysis / Gluconeogenesis, organism-specific biosystem (from KEGG)
Glycolysis / Gluconeogenesis, organism-specific biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
Glycolysis / Gluconeogenesis, conserved biosystem (from KEGG)
Glycolysis / Gluconeogenesis, conserved biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of xenobiotics by cytochrome P450, organism-specific biosystem (from KEGG)
Metabolism of xenobiotics by cytochrome P450, organism-specific biosystem
Metabolism of xenobiotics by cytochrome P450
Metabolism of xenobiotics by cytochrome P450, conserved biosystem (from KEGG)
Metabolism of xenobiotics by cytochrome P450, conserved biosystem
Metabolism of xenobiotics by cytochrome P450
Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
RA biosynthesis pathway, organism-specific biosystem (from REACTOME)
RA biosynthesis pathway, organism-specific biosystemThe major activated retinoid, all-trans-retinoic acid (atRA) is produced by the dehydrogenation of all-trans-retinol (atROL) by members of the short chain dehydrogenase/reductase (SDR) and aldehyde d...
Retinol metabolism, organism-specific biosystem (from KEGG)
Retinol metabolism, organism-specific biosystem
Retinol metabolism
Retinol metabolism, conserved biosystem (from KEGG)
Retinol metabolism, conserved biosystem
Retinol metabolism
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by Retinoic Acid, organism-specific biosystem (from REACTOME)
Signaling by Retinoic Acid, organism-specific biosystemVitamin A (retinol) can be metabolised into active retinoid metabolites that function either as a chromophore in vision or in regulating gene expression transcriptionally and post-transcriptionally. ...
Tyrosine metabolism, organism-specific biosystem (from KEGG)
Tyrosine metabolism, organism-specific biosystem
Tyrosine metabolism
Tyrosine metabolism, conserved biosystem (from KEGG)
Tyrosine metabolism, conserved biosystem
Tyrosine metabolism
Vitamin A and Carotenoid Metabolism, organism-specific biosystem (from WikiPathways)
Vitamin A and Carotenoid Metabolism, organism-specific biosystemThis pathway is about carotenoid and vitamin A metabolism. The initial version was created by the NuGO focusteam on Carotenoid metabolism. It was used to test a text mining workflow which added some ...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L00769 (e-PCR)
- UniSTS:41804

SHGC-51373 (e-PCR)
- UniSTS:41059

NoName (e-PCR)
- UniSTS:481905

GDB:187387 (e-PCR)
- UniSTS:155548

D4S570 (e-PCR)
- UniSTS:88230

NoName (e-PCR)
- UniSTS:491183

Homology

Homologs of the ADH1A gene: The ADH1A gene is conserved in chimpanzee, Rhesus monkey, and frog.
Orthologs from Annotation Pipeline: 3 organisms have orthologs with human gene ADH1A
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
alcohol dehydrogenase activity, zinc-dependent	IBA Inferred from Biological aspect of Ancestor more info	PubMed
alcohol dehydrogenase activity, zinc-dependent	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction 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

Process	Evidence Code	Pubs
alcohol metabolic process	NAS Non-traceable Author Statement more info	PubMed
drug metabolic process	TAS Traceable Author Statement more info
ethanol oxidation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ethanol oxidation	TAS Traceable Author Statement more info
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	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

General protein information

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Preferred Names: alcohol dehydrogenase 1A

Names: ADH, alpha subunit; alcohol dehydrogenase 1 (class I), alpha polypeptide; alcohol dehydrogenase subunit alpha; aldehyde reductase

NP_000658.1

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.