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    ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide [ Homo sapiens (human) ]

    Gene ID: 128, updated on 9-Jun-2024

    Summary

    Official Symbol
    ADH5provided by HGNC
    Official Full Name
    alcohol dehydrogenase 5 (class III), chi polypeptideprovided by HGNC
    Primary source
    HGNC:HGNC:253
    See related
    Ensembl:ENSG00000197894 MIM:103710; AllianceGenome:HGNC:253
    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
    FDH; ADHX; ADH-3; AMEDS; BMFS7; FALDH; GSNOR; GSH-FDH; HEL-S-60p
    Summary
    This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 69.1), kidney (RPKM 68.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ADH5 in Genome Data Viewer
    Location:
    4q23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99070978..99088788, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102385880..102403688, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (99992129..100009939, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900738 Neighboring gene methionyl aminopeptidase 1 Neighboring gene activator of basal transcription 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21737 Neighboring gene ADH5 promoter Neighboring gene uncharacterized LOC100507053 Neighboring gene Sharpr-MPRA regulatory region 12553 Neighboring gene uncharacterized LOC124900739 Neighboring gene ADH4 promoter Neighboring gene alcohol dehydrogenase 4 (class II), pi 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
    AMED syndrome, digenic
    MedGen: C5436906 OMIM: 619151 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    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 association study of smoking behaviours among Bangladeshi adults.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ43004

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in fatty acid omega-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in formaldehyde catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nitrosative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to redox state IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinoid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    alcohol dehydrogenase class-3
    Names
    S-(hydroxymethyl)glutathione dehydrogenase
    S-nitrosoglutathione reductase
    alcohol dehydrogenase (class III), chi polypeptide
    alcohol dehydrogenase class chi chain
    alcohol dehydrogenase class-III
    epididymis secretory sperm binding protein Li 60p
    formaldehyde dehydrogenase
    glutathione-dependent formaldehyde dehydrogenase
    NP_000662.3

    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.

    mRNA and Protein(s)

    1. NM_000671.4NP_000662.3  alcohol dehydrogenase class-3

      See identical proteins and their annotated locations for NP_000662.3

      Status: REVIEWED

      Source sequence(s)
      AC019131, DA737788, M30471
      Consensus CDS
      CCDS47111.1
      UniProtKB/Swiss-Prot
      P11766, Q6FHR2
      UniProtKB/TrEMBL
      A0A024RDI2, Q5U043, Q6FI45, Q6IRT1
      Related
      ENSP00000296412.8, ENST00000296412.14
      Conserved Domains (1) summary
      cd08300
      Location:6373
      alcohol_DH_class_III; class III alcohol dehydrogenases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      99070978..99088788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      102385880..102403688 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)