Format

Send to:

Choose Destination

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

Gene ID: 124, updated on 17-Jun-2019

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

Genomic context

See ADH1A in Genome Data Viewer
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_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507053 Neighboring gene proliferating cell nuclear antigen pseudogene 2 Neighboring gene ADH6 promoter Neighboring gene alcohol dehydrogenase 6 (class V) Neighboring gene ADH1A promoter Neighboring gene ADH1B promoter Neighboring gene alcohol dehydrogenase 1B (class I), beta polypeptide Neighboring gene ADH1C promoter region Neighboring gene alcohol dehydrogenase 1C (class I), gamma polypeptide

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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

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

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)

  1. NM_000667.4NP_000658.1  alcohol dehydrogenase 1A

    See identical proteins and their annotated locations for NP_000658.1

    Status: REVIEWED

    Source sequence(s)
    AK290558
    Consensus CDS
    CCDS3648.1
    UniProtKB/Swiss-Prot
    P07327
    Related
    ENSP00000209668.2, ENST00000209668.3
    Conserved Domains (1) summary
    cd08299
    Location:3375
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    99276369..99290985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center