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Aliases for ADHFE1 Gene

Aliases for ADHFE1 Gene

  • Alcohol Dehydrogenase, Iron Containing, 1 2 3
  • HOT 3 4 6
  • Alcohol Dehydrogenase Iron-Containing Protein 1 3 4
  • EC 1.1.99.24 4 63
  • ADH8 3 6
  • Hydroxyacid-Oxoacid Transhydrogenase, Mitochondrial 3
  • Fe-Containing Alcohol Dehydrogenase 1 3
  • Hydroxyacid-Oxoacid Transhydrogenase 2
  • Fe-Containing Alcohol Dehydrogenase 4
  • Alcohol Dehydrogenase 8 3
  • HMFT2263 3
  • ADHFe1 4

External Ids for ADHFE1 Gene

Previous GeneCards Identifiers for ADHFE1 Gene

  • GC08P067067
  • GC08P067394
  • GC08P067507
  • GC08P067344
  • GC08P062834

Summaries for ADHFE1 Gene

Entrez Gene Summary for ADHFE1 Gene

  • 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]

GeneCards Summary for ADHFE1 Gene

ADHFE1 (Alcohol Dehydrogenase, Iron Containing, 1) is a Protein Coding gene. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include hydroxyacid-oxoacid transhydrogenase activity.

UniProtKB/Swiss-Prot for ADHFE1 Gene

  • Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADHFE1 Gene

Genomics for ADHFE1 Gene

Regulatory Elements for ADHFE1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ADHFE1 Gene

Start:
66,430,185 bp from pter
End:
66,471,601 bp from pter
Size:
41,417 bases
Orientation:
Plus strand

Genomic View for ADHFE1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADHFE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADHFE1 Gene

Proteins for ADHFE1 Gene

  • Protein details for ADHFE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWW8-HOT_HUMAN
    Recommended name:
    Hydroxyacid-oxoacid transhydrogenase, mitochondrial
    Protein Accession:
    Q8IWW8
    Secondary Accessions:
    • B4DTJ8
    • Q49A19
    • Q68CI7
    • Q6P2B6
    • Q96MF9

    Protein attributes for ADHFE1 Gene

    Size:
    467 amino acids
    Molecular mass:
    50308 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADHFE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADHFE1 Gene

Proteomics data for ADHFE1 Gene at MOPED

Post-translational modifications for ADHFE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains for ADHFE1 Gene

Gene Families for ADHFE1 Gene

HGNC:
  • ADH :Alcohol dehydrogenases

Protein Domains for ADHFE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWW8

UniProtKB/Swiss-Prot:

HOT_HUMAN :
  • Q8IWW8
Family:
  • Belongs to the iron-containing alcohol dehydrogenase family. Hydroxyacid-oxoacid transhydrogenase subfamily.
genes like me logo Genes that share domains with ADHFE1: view

Function for ADHFE1 Gene

Molecular function for ADHFE1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.17 mM for GHB {ECO:0000269 PubMed:16435184}; KM=1.2 mM for 2-KG {ECO:0000269 PubMed:16435184}; KM=0.12 mM for D-2-HG {ECO:0000269 PubMed:16435184}; KM=0.04 mM for SSA {ECO:0000269 PubMed:16435184}; KM=0.8 mM for L-3-OHB {ECO:0000269 PubMed:16435184}; Vmax=16 nmol/h/mg enzyme with GHB and 2-KG as substrates {ECO:0000269 PubMed:16435184}; Vmax=0.5 nmol/h/mg enzyme with SSA and D-2-HG as substrates {ECO:0000269 PubMed:16435184}; Vmax=1.8 nmol/h/mg enzyme with L-3-OHB and 2-KG as substrates {ECO:0000269 PubMed:16435184}; pH dependence: Optimum pH is 7.5. {ECO:0000269 PubMed:16435184};
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-hydroxybutanoate + 2-oxoglutarate = acetoacetate + (R)-2-hydroxyglutarate.
UniProtKB/Swiss-Prot CatalyticActivity:
4-hydroxybutanoate + 2-oxoglutarate = succinic semialdehyde + (R)-2-hydroxyglutarate.
UniProtKB/Swiss-Prot Function:
Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities.

Enzyme Numbers (IUBMB) for ADHFE1 Gene

Gene Ontology (GO) - Molecular Function for ADHFE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity --
GO:0046872 metal ion binding IEA --
GO:0047988 hydroxyacid-oxoacid transhydrogenase activity IDA 16435184
genes like me logo Genes that share ontologies with ADHFE1: view

Phenotypes for ADHFE1 Gene

genes like me logo Genes that share phenotypes with ADHFE1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADHFE1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ADHFE1 Gene

Localization for ADHFE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADHFE1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADHFE1 Gene COMPARTMENTS Subcellular localization image for ADHFE1 gene
Compartment Confidence
mitochondrion 4

Gene Ontology (GO) - Cellular Components for ADHFE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ADHFE1: view

Pathways for ADHFE1 Gene

genes like me logo Genes that share pathways with ADHFE1: view

Interacting Proteins for ADHFE1 Gene

Gene Ontology (GO) - Biological Process for ADHFE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006103 2-oxoglutarate metabolic process TAS --
GO:0015993 molecular hydrogen transport IDA 16435184
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ADHFE1: view

Compounds for ADHFE1 Gene

(13) HMDB Compounds for ADHFE1 Gene

Compound Synonyms Cas Number PubMed IDs
(S)-3-Hydroxybutyric acid
  • (S)-3-hydroxy-Butanoic acid
6168-83-8
1-Butanol
  • 1-Butanol
71-36-3
1-Hexanol
  • 1-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
71-41-0
Acetoacetic acid
  • 3-Ketobutyrate
541-50-4
genes like me logo Genes that share compounds with ADHFE1: view

Transcripts for ADHFE1 Gene

Unigene Clusters for ADHFE1 Gene

Alcohol dehydrogenase, iron containing, 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADHFE1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADHFE1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ·
SP1: - -
SP2: - - - -
SP3: - - -
SP4: - - - - -
SP5: - - - -
SP6: - -
SP7: - - - - -
SP8: - - - -
SP9: - - - -
SP10: -
SP11: - - -
SP12:
SP13: - - - -
SP14:
SP15: -

ExUns: 16c ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for ADHFE1 Gene

GeneLoc Exon Structure for
ADHFE1
ECgene alternative splicing isoforms for
ADHFE1

Expression for ADHFE1 Gene

mRNA expression in normal human tissues for ADHFE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ADHFE1 Gene

This gene is overexpressed in Gallbladder (19.3), Heart (13.0), and Liver (10.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ADHFE1 Gene

SOURCE GeneReport for Unigene cluster for ADHFE1 Gene Hs.720023

mRNA Expression by UniProt/SwissProt for ADHFE1 Gene

Q8IWW8-HOT_HUMAN
Tissue specificity: Only expressed in adult liver.
genes like me logo Genes that share expressions with ADHFE1: view

Expression partners for ADHFE1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ADHFE1 Gene

Orthologs for ADHFE1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ADHFE1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ADHFE1 35
  • 88.32 (n)
  • 90.75 (a)
ADHFE1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADHFE1 35
  • 90.54 (n)
  • 92.9 (a)
ADHFE1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adhfe1 35
  • 87.11 (n)
  • 89.67 (a)
Adhfe1 16
Adhfe1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ADHFE1 35
  • 96.04 (n)
  • 94.64 (a)
rat
(Rattus norvegicus)
Mammalia Adhfe1 35
  • 85.05 (n)
  • 89.72 (a)
oppossum
(Monodelphis domestica)
Mammalia ADHFE1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADHFE1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADHFE1 35
  • 77.75 (n)
  • 83.61 (a)
ADHFE1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADHFE1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adhfe1 35
  • 73.79 (n)
  • 79.74 (a)
MGC75621 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15864 35
zebrafish
(Danio rerio)
Actinopterygii adhfe1 35
  • 69.15 (n)
  • 72.59 (a)
Dr.16867 35
adhfe1 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta HOT_ANOGA 35
  • 58.53 (n)
  • 58.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta T3dh 35
  • 59.71 (n)
  • 59.34 (a)
T3dh 36
  • 58 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y38F1A.6 35
  • 52.25 (n)
  • 50.57 (a)
Y38F1A.6 36
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADH4 36
  • 24 (a)
OneToOne
ADH4 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12418 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04078 35
  • 56.56 (n)
  • 53.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4228 36
  • 62 (a)
OneToOne
Species with no ortholog for ADHFE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADHFE1 Gene

ENSEMBL:
Gene Tree for ADHFE1 (if available)
TreeFam:
Gene Tree for ADHFE1 (if available)

Paralogs for ADHFE1 Gene

No data available for Paralogs for ADHFE1 Gene

Variants for ADHFE1 Gene

Sequence variations from dbSNP and Humsavar for ADHFE1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs1108 -- 66,468,628(-) ATGAA(A/G)CAGAG utr-variant-3-prime
rs12265 -- 66,468,502(-) GCTTT(G/T)GGGAA utr-variant-3-prime
rs13682 -- 66,468,442(-) TATGC(A/G)CAAAG utr-variant-3-prime
rs746149 -- 66,438,685(+) CAGAG(C/G)GGGTA intron-variant
rs753082 -- 66,441,023(-) AGATG(A/G)CAGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADHFE1 Gene

Variant ID Type Subtype PubMed ID
nsv6236 CNV Loss 18451855
nsv6237 CNV Insertion 18451855
nsv465702 CNV Loss 19166990

Relevant External Links for ADHFE1 Gene

HapMap Linkage Disequilibrium report
ADHFE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADHFE1 Gene

Disorders for ADHFE1 Gene

Relevant External Links for ADHFE1

Genetic Association Database (GAD)
ADHFE1
Human Genome Epidemiology (HuGE) Navigator
ADHFE1

No disorders were found for ADHFE1 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for ADHFE1 Gene

Publications for ADHFE1 Gene

  1. Cloning and characterization of a novel human alcohol dehydrogenase gene (ADHFe1). (PMID: 12592711) Deng Y. … Mao Y. (DNA Seq. 2002) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PMID: 15221005) Yamada S. … Nakagawara A. (Oncogene 2004) 3 4
  4. Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma- hydroxybutyric acidurias. (PMID: 16435184) Struys E.A. … Jakobs C. (J. Inherit. Metab. Dis. 2005) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for ADHFE1 Gene

Sources for ADHFE1 Gene

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