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ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide [ Homo sapiens (human) ]

Gene ID: 126, updated on 10-Dec-2019

Summary

Official Symbol
ADH1Cprovided by HGNC
Official Full Name
alcohol dehydrogenase 1C (class I), gamma polypeptideprovided by HGNC
Primary source
HGNC:HGNC:251
See related
Ensembl:ENSG00000248144 MIM:103730
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
ADH3
Summary
This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation to acetaldehyde, thus playing a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. An association between ADH1C polymorphism and alcohol dependence has not been established. [provided by RefSeq, Sep 2019]
Expression
Biased expression in liver (RPKM 388.0), duodenum (RPKM 230.6) and 5 other tissues See more
Orthologs

Genomic context

See ADH1C in Genome Data Viewer
Location:
4q23
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (99336497..99352746, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100257649..100273917, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507053 Neighboring gene ADH1A promoter Neighboring gene alcohol dehydrogenase 1A (class I), alpha polypeptide Neighboring gene ADH1B promoter Neighboring gene alcohol dehydrogenase 1B (class I), beta polypeptide Neighboring gene ADH1C promoter region Neighboring gene uncharacterized LOC102723576 Neighboring gene D-E enhancer region downstream of ADH7 Neighboring gene ADH7 promoter Neighboring gene alcohol dehydrogenase 7 (class IV), mu or sigma 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alcohol dependence
MedGen: C0001973 OMIM: 103780 GeneReviews: Not available
Compare labs
Parkinson disease, late-onset
MedGen: C3160718 OMIM: 168600 GeneReviews: Parkinson Disease Overview
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
NHGRI GWA Catalog
Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
NHGRI GWA Catalog
Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.
NHGRI GWA Catalog
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
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 (NAD) activity IDA
Inferred from Direct Assay
more info
PubMed 
alcohol dehydrogenase activity, zinc-dependent IBA
Inferred from Biological aspect of Ancestor
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
ethanol oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ethanol oxidation IDA
Inferred from Direct Assay
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 1C
Names
ADH, gamma subunit
alcohol dehydrogenase 3 (class I), gamma polypeptide
aldehyde reductase
NP_000660.1

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.

Genomic

  1. NG_011718.1 RefSeqGene

    Range
    5015..21264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000669.5NP_000660.1  alcohol dehydrogenase 1C

    See identical proteins and their annotated locations for NP_000660.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    BC074786, CD014078, DA562068
    Consensus CDS
    CCDS54780.1
    UniProtKB/Swiss-Prot
    P00326
    Related
    ENSP00000426083.1, ENST00000515683.6
    Conserved Domains (1) summary
    cd08299
    Location:3375
    alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases

RNA

  1. NR_133005.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC097530, CD014078

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    99336497..99352746 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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