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; AllianceGenome:HGNC:249
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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 4q23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (99276369..99290985, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (102591175..102605798, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (100197526..100212142, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Contrary to consensus, oxidation of ethanol by human alcohol dehydrogenase (ADH) 1A is activated by ATP.
Title: Contrary to consensus, oxidation of ethanol by human alcohol dehydrogenase (ADH) 1A is activated by ATP.
Variation of ADH1A was significantly associated with blood acetaldehyde concentrations, which may contribute to slow alcohol metabolism and result in increased blood acetaldehyde levels in Korean subjects.
Title: The association between alcohol metabolism and genetic variants of ADH1A, SRPRB, and PGM1 in Korea.
The activity of total alcohol dehydrogenase (ADH) and class I isoenzymes in the sera of autoimmune hepatitis patients is increased and aldehyde dehydrogenase (ALDH) levels were unchanged.
Title: The Activity of Alcohol Dehydrogenase Isoenzymes and Aldehyde Dehydrogenase in the Sera of Patients with Autoimmune Hepatitis.
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.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

Go to the top of the page Help

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD-retinol dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alcohol dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables alcohol dehydrogenase activity, zinc-dependent	IBA Inferred from Biological aspect of Ancestor more info
enables alcohol dehydrogenase activity, zinc-dependent	IDA Inferred from Direct Assay more info	PubMed
enables butanol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in alcohol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in alcohol metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in ethanol oxidation	IBA Inferred from Biological aspect of Ancestor more info
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	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

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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.