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

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Summary

Official Symbol: ADH1Aprovided by HGNC
Official Full Name: alcohol dehydrogenase 1A (class I), alpha polypeptideprovided by HGNC
Primary source: HGNC:249
See related: Ensembl:ENSG00000187758; HPRD:00063; MIM:103700; Vega:OTTHUMG00000131026
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]

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Genomic context

Location :: 4q23

Sequence :: Chromosome: 4; NC_000004.11 (100197523..100212185, complement)

See ADH1A in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
Alleles of ADH7 SNPs were associated with the early stages of alcohol metabolism, with additional effects in the ADH1A, ADH1B and ADH4 regions.
Title: ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.
Observational study of healthcare-related. (HuGE Navigator)
Title: Genotype announcement in a genetic polymorphism study for health checkup examinees at Nagoya University Hospital.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples.
Observational study of gene-disease association. (HuGE Navigator)
Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Alcohol dehydrogenase 3 genotype is not associated with risk of squamous cell carcinoma of the oral cavity and pharynx.
The oxidative pathway of ethanol metabolism via ADH and ALDH does not play a role in pancreatic carcinogenesis.
Title: The activity of class I, II, III, and IV of alcohol dehydrogenase isoenzymes and aldehyde dehydrogenase in pancreatic cancer.
Structural aspects that influence dimer-tetramer formation.
Title: Structural aspects of aldehyde dehydrogenase that influence dimer-tetramer formation.

Submit: New GeneRIF Correction See all (11)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P07327	P07327	ADH1A		HPRD	PubMed

Function	Evidence Code	Pubs
alcohol dehydrogenase activity, zinc-dependent	IDA Inferred from Direct Assay more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
alcohol metabolic process	NAS Non-traceable Author Statement more info	PubMed
ethanol oxidation	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info

General protein information

Preferred Names: alcohol dehydrogenase 1A

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

NP_000658.1

EC 1.1.1.1

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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)

NM_000667.3 → NP_000658.1 alcohol dehydrogenase 1A

Status: REVIEWED

Source sequence(s)

AK290558, BG199182, CB116632

Consensus CDS

CCDS3648.1

UniProtKB/Swiss-Prot

P07327

Related

ENSP00000209668, OTTHUMP00000161653, ENST00000209668, OTTHUMT00000253669

Conserved Domains (2) summary

COG1062
Location:8 – 375
Blast Score: 1200

AdhC; Zn-dependent alcohol dehydrogenases, class III [Energy production and conversion]

cd08299
Location:3 – 375
Blast Score: 2002

alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p5 Primary Assembly

Range

100197523..100212185, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

95935330..95949995, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC097530.3 (8962..23580)	None
genomic	AY948115.1	AAX20115.1
genomic	CH471057.1	EAX06093.1
		EAX06094.1
genomic	M32656.1	AAA52276.1
genomic	M37066.1	AAA51591.1
mRNA	AK290558.1	BAF83247.1
mRNA	AK309597.1	None
mRNA	BC074738.2	AAH74738.1
mRNA	BC117442.1	AAI17443.1
mRNA	BC126306.1	AAI26307.1
mRNA	BG199182.1	None
mRNA	BT019812.1	AAV38615.1
mRNA	CB116632.1	None
mRNA	M12271.1	AAA68131.1
mRNA	M12963.1	AAA51590.1