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    ADHFE1 alcohol dehydrogenase iron containing 1 [ Homo sapiens (human) ]

    Gene ID: 137872, updated on 9-Dec-2024

    Summary

    Official Symbol
    ADHFE1provided by HGNC
    Official Full Name
    alcohol dehydrogenase iron containing 1provided by HGNC
    Primary source
    HGNC:HGNC:16354
    See related
    Ensembl:ENSG00000147576 MIM:611083; AllianceGenome:HGNC:16354
    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
    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]
    Expression
    Ubiquitous expression in heart (RPKM 16.3), fat (RPKM 15.2) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ADHFE1 in Genome Data Viewer
    Location:
    8q13.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (66432504..66468907)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (66858074..66894463)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67344739..67381142)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19253 Neighboring gene RRS1 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr8:67358104-67358753 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:67370279-67370807 Neighboring gene ribosome biogenesis regulator 1 homolog Neighboring gene TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27481 Neighboring gene RNA, U6 small nuclear 1324, pseudogene Neighboring gene vexin

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: VXN

    Clone Names

    • FLJ32430, MGC48605

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alcohol dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hydroxyacid-oxoacid transhydrogenase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables hydroxyacid-oxoacid transhydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in 2-oxoglutarate metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in glutamate catabolic process via 2-hydroxyglutarate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

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

    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_144650.3NP_653251.2  hydroxyacid-oxoacid transhydrogenase, mitochondrial

      See identical proteins and their annotated locations for NP_653251.2

      Status: VALIDATED

      Source sequence(s)
      AC009879, AY033237, BG698892, BQ182872, CB157325
      Consensus CDS
      CCDS6190.2
      UniProtKB/Swiss-Prot
      B4DTJ8, Q49A19, Q68CI7, Q6P2B6, Q8IWW8, Q96MF9
      UniProtKB/TrEMBL
      B4DEA1
      Related
      ENSP00000379865.3, ENST00000396623.8
      Conserved Domains (1) summary
      cd08190
      Location:51464
      HOT; Hydroxyacid-oxoacid transhydrogenase (HOT) involved in gamma-hydroxybutyrate metabolism

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      66432504..66468907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      66858074..66894463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)