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

    Gene ID: 126, updated on 16-Aug-2016
    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 HPRD:00066; MIM:103730; Vega:OTTHUMG00000161422
    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 and plays 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. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    4q23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (99336492..99353045, 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 alcohol dehydrogenase 1A (class I), alpha polypeptide Neighboring gene alcohol dehydrogenase 1B (class I), beta polypeptide Neighboring gene uncharacterized LOC102723576 Neighboring gene alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Products Interactant Other Gene Complex Source Pubs Description

    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 EXP
    Inferred from Experiment
    more info
    PubMed 
    retinol dehydrogenase activity TAS
    Traceable Author Statement
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ethanol oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ethanol oxidation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    alcohol dehydrogenase 1C
    Names
    ADH, gamma subunit
    alcohol dehydrogenase 3 (class I), gamma polypeptide
    aldehyde reductase
    NP_000660.1

    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
      4716..21269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000669.4NP_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
      UniProtKB/Swiss-Prot
      P00326
      Related
      ENSP00000426083, OTTHUMP00000220209, ENST00000515683, OTTHUMT00000364877
      Conserved Domains (2) summary
      cd08299
      Location:3375
      alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
      COG1062
      Location:8375
      FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]

    RNA

    1. NR_133005.1 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, DA562068

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      99336492..99353045 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531589.1XP_011529891.1  

      See identical proteins and their annotated locations for XP_011529891.1

      Conserved Domains (2) summary
      cd08299
      Location:1335
      alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
      COG1062
      Location:1335
      FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]
    2. XM_011531588.2XP_011529890.1  

      Conserved Domains (2) summary
      cd08299
      Location:6341
      alcohol_DH_class_I_II_IV; class I, II, IV alcohol dehydrogenases
      COG1062
      Location:6341
      FrmA; Zn-dependent alcohol dehydrogenase [General function prediction only]

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      100234034..100250677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)