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    Adhfe1 alcohol dehydrogenase, iron containing, 1 [ Mus musculus (house mouse) ]

    Gene ID: 76187, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Adhfe1provided by MGI
    Official Full Name
    alcohol dehydrogenase, iron containing, 1provided by MGI
    Primary source
    MGI:MGI:1923437
    See related
    Ensembl:ENSMUSG00000025911 AllianceGenome:MGI:1923437
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HOT; Adh8; 6330565B14Rik
    Summary
    Predicted to enable alcohol dehydrogenase (NAD+) activity and hydroxyacid-oxoacid transhydrogenase activity. Predicted to be involved in glutamate catabolic process via 2-hydroxyglutarate. Located in mitochondrion. Is expressed in several structures, including brain; cranium; genitourinary system; sensory organ; and spinal cord. Orthologous to human ADHFE1 (alcohol dehydrogenase iron containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney adult (RPKM 62.9), subcutaneous fat pad adult (RPKM 31.2) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Adhfe1 in Genome Data Viewer
    Location:
    1 A2; 1 2.08 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (9618173..9648195)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (9547948..9577970)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene cytochrome b5 reductase 4 pseudogene Neighboring gene STARR-seq mESC enhancer starr_00164 Neighboring gene STARR-positive B cell enhancer ABC_E404 Neighboring gene RIKEN cDNA 2610203C22 gene Neighboring gene ribosome biogenesis regulator 1 Neighboring gene STARR-positive B cell enhancer ABC_E4303 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_00166 Neighboring gene vexin Neighboring gene STARR-seq mESC enhancer starr_00167 Neighboring gene VISTA enhancer mm1546 Neighboring gene myeloblastosis oncogene-like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Differentiation-dependent expression of Adhfe1 in adipogenesis. Kim JY, et al. Arch Biochem Biophys, 2007 Aug 1. PMID 17559793, Free PMC Article
    2. Region-specific saturation germline mutagenesis in mice using the Sleeping Beauty transposon system. Keng VW, et al. Nat Methods, 2005 Oct. PMID 16179923
    3. Loss of Fam60a, a Sin3a subunit, results in embryonic lethality and is associated with aberrant methylation at a subset of gene promoters. Nabeshima R, et al. Elife, 2018 Aug 2. PMID 30070635, Free PMC Article
    4. UPF2 is a critical regulator of liver development, function and regeneration. Thoren LA, et al. PLoS One, 2010 Jul 19. PMID 20657840, Free PMC Article
    5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Adhfe1 is a novel alcohol dehydrogenase with mitochondrial localization
      Title: Differentiation-dependent expression of Adhfe1 in adipogenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Transposon induced (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

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    Preferred Names
    hydroxyacid-oxoacid transhydrogenase, mitochondrial
    Names
    Fe-containing alcohol dehydrogenase 1
    alcohol dehydrogenase 8
    alcohol dehydrogenase iron-containing protein 1
    NP_001344305.1
    NP_001344306.1
    NP_001344307.1
    NP_780445.1
    XP_006495649.1
    XP_036010127.1

    NCBI Reference Sequences (RefSeq)

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    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_001357376.1 → NP_001344305.1  hydroxyacid-oxoacid transhydrogenase, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC103620
      UniProtKB/TrEMBL
      A0A087WRE7
      Conserved Domains (1) summary
      cd08190
      Location:3 → 416
      HOT; Hydroxyacid-oxoacid transhydrogenase (HOT) involved in gamma-hydroxybutyrate metabolism

    2. NM_001357377.1 → NP_001344306.1  hydroxyacid-oxoacid transhydrogenase, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC103620
      UniProtKB/TrEMBL
      A0A087WRE7
      Conserved Domains (1) summary
      cd08190
      Location:3 → 416
      HOT; Hydroxyacid-oxoacid transhydrogenase (HOT) involved in gamma-hydroxybutyrate metabolism

    3. NM_001357378.1 → NP_001344307.1  hydroxyacid-oxoacid transhydrogenase, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC103620
      UniProtKB/TrEMBL
      A0A087WRE7
      Conserved Domains (1) summary
      cd08190
      Location:1 → 394
      HOT; Hydroxyacid-oxoacid transhydrogenase (HOT) involved in gamma-hydroxybutyrate metabolism

    4. NM_175236.5 → NP_780445.1  hydroxyacid-oxoacid transhydrogenase, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_780445.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC103620, AK038853, AW494922
      Consensus CDS
      CCDS14812.1
      UniProtKB/Swiss-Prot
      Q78SV3, Q8BYP0, Q8R0N6
      UniProtKB/TrEMBL
      A0A087WRE7
      Related
      ENSMUSP00000116627.2, ENSMUST00000144177.8
      Conserved Domains (1) summary
      cd08190
      Location:49 → 462
      HOT; Hydroxyacid-oxoacid transhydrogenase (HOT) involved in gamma-hydroxybutyrate metabolism

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      9618173..9648195
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154234.1 → XP_036010127.1  hydroxyacid-oxoacid transhydrogenase, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A087WRE7
      Conserved Domains (1) summary
      cd08190
      Location:17 → 430
      HOT; Hydroxyacid-oxoacid transhydrogenase (HOT) involved in gamma-hydroxybutyrate metabolism

    2. XM_006495586.4 → XP_006495649.1  hydroxyacid-oxoacid transhydrogenase, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_006495649.1

      UniProtKB/TrEMBL
      A0A087WRE7
      Conserved Domains (1) summary
      cd08190
      Location:3 → 416
      HOT; Hydroxyacid-oxoacid transhydrogenase (HOT) involved in gamma-hydroxybutyrate metabolism
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R0N6.2 GenPept UniProtKB/Swiss-Prot:Q8R0N6

    Gene LinkOut

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

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