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

    Gene ID: 126, updated on 29-Mar-2023

    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; AllianceGenome:HGNC:251
    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
    NEW
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    Genomic context

    See ADH1C in Genome Data Viewer
    Location:
    4q23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99336497..99352746, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102651250..102667501, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100257654..100273903, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene alcohol dehydrogenase 1B (class I), beta polypeptide Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:100238861-100240060 Neighboring gene ADH1B promoter Neighboring gene ADH1C promoter region Neighboring gene uncharacterized LOC102723576 Neighboring gene D-E enhancer region downstream of ADH7 Neighboring gene alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide Neighboring gene ADH7 promoter

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
    EBI GWAS Catalog
    Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
    EBI GWAS Catalog
    Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.
    EBI GWAS Catalog
    Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD-retinol dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ethanol oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in ethanol oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinoic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in retinol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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

    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)

    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.

    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, Q6NZA7
      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: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      102651250..102667501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)