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    ADHFE1 alcohol dehydrogenase, iron containing, 1 [ Homo sapiens ]

    Gene ID: 137872, updated on 11-May-2012
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    Summary

    Official Symbol
    ADHFE1provided by HGNC
    Official Full Name
    alcohol dehydrogenase, iron containing, 1provided by HGNC
    Primary source
    HGNC:16354
    Locus tag
    HMFT2263
    See related
    Ensembl:ENSG00000147576; HPRD:12428; MIM:611083; Vega:OTTHUMG00000150215
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HOT; ADH8; HMFT2263; FLJ32430; MGC48605
    Summary
    The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]
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    Genomic context

    Location :
    8q13.1
    Sequence :
    Chromosome: 8; NC_000008.10 (67344718..67381044)
    See ADHFE1 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100505676 Neighboring gene RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) Neighboring gene TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene Neighboring gene chromosome 8 open reading frame 46

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624.
    2. Enzymes involved in the metabolism of gamma-hydroxybutyrate in SH-SY5Y cells: identification of an iron-dependent alcohol dehydrogenase ADHFe1. Lyon RC, et al. Chem Biol Interact, 2009 Mar 16. PMID 19013439.
    3. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791.
    4. Identification of the gene encoding hydroxyacid-oxoacid transhydrogenase, an enzyme that metabolizes 4-hydroxybutyrate. Kardon T, et al. FEBS Lett, 2006 Apr 17. PMID 16616524.
    5. Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias. Struys EA, et al. J Inherit Metab Dis, 2005. PMID 16435184.

    See all (9) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    2. show that the ADHFe1 gene is related to bacterial GHB dehydrogenases and has a conserved NAD-binding site
      Title: Enzymes involved in the metabolism of gamma-hydroxybutyrate in SH-SY5Y cells: identification of an iron-dependent alcohol dehydrogenase ADHFe1.
    3. cloned and characterized an iron-activated alcohol dehydrogenase gene, Fe-containing alcohol dehydrogenase 1 (ADHFe1)
      Title: Cloning and characterization of a novel human alcohol dehydrogenase gene (ADHFe1).
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the ADHFE1 gene: The ADHFE1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, , and N.crassa.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Interconversion of 2-oxoglutarate and 2-hydroxyglutarate, organism-specific biosystem (from REACTOME)
      Interconversion of 2-oxoglutarate and 2-hydroxyglutarate, organism-specific biosystemThe two stereoisomers of 2-hydroxyglutarate are normally converted to 2-oxoglutarate in the mitochondrial matrix, and can then be metabolized by the citric acid cycle. The physiological sources of 2-...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystem (from REACTOME)
      Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystemPyruvate metabolism and the citric acid (TCA) cycle together link the processes of energy metabolism in a human cell with one another and with key biosynthetic reactions. Pyruvate, derived from the r...
    • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
      The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hydroxyacid-oxoacid transhydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    2-oxoglutarate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    molecular hydrogen transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
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    General protein information

    Preferred Names
    hydroxyacid-oxoacid transhydrogenase, mitochondrial
    Names
    hydroxyacid-oxoacid transhydrogenase, mitochondrial
    alcohol dehydrogenase 8
    Fe-containing alcohol dehydrogenase 1
    alcohol dehydrogenase iron-containing protein 1
    NP_653251.2
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    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_144650.2 → NP_653251.2  hydroxyacid-oxoacid transhydrogenase, mitochondrial

      Status: VALIDATED

      Source sequence(s)
      AY033237, BE241883, BG698892, BQ182872, CB157325
      Consensus CDS
      CCDS6190.2
      UniProtKB/Swiss-Prot
      Q8IWW8
      Related
      ENSP00000379865, OTTHUMP00000196631, ENST00000396623, OTTHUMT00000316867
      Conserved Domains (2) summary
      cd08190
      Location:51 – 464
      Blast Score: 1966
      HOT; Hydroxyacid-oxoacid transhydrogenase (HOT) involved in gamma-hydroxybutyrate metabolism
      pfam00465
      Location:52 – 456
      Blast Score: 644
      Fe-ADH; Iron-containing alcohol dehydrogenase

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p5 Primary Assembly

      Range
      67344718..67381044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      62834707..62871046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC009879.8 (57064..93372) None
    genomic CH471068.1 EAW86901.1
      EAW86902.1
      EAW86903.1
      EAW86904.1
      EAW86905.1
      EAW86906.1
      EAW86907.1
    mRNA AB075879.1 BAD38661.1
    mRNA AK056992.1 BAB71335.1
    mRNA AK293530.1 BAG57012.1
    mRNA AK294114.1 BAG57448.1
    mRNA AK300243.1 BAG62010.1
    mRNA AK300881.1 BAG62523.1
    mRNA AY033237.1 AAK44223.1
    mRNA BC047492.1 None
    mRNA BC064634.1 AAH64634.1
    mRNA BC110290.1 None
    mRNA BE241883.1 None
    mRNA BG698892.1 None
    mRNA BQ182872.1 None
    mRNA CB157325.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWW8.1 GenPept UniProtKB/Swiss-Prot:Q8IWW8
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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