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Aliases for ADHFE1 Gene

Aliases for ADHFE1 Gene

  • Alcohol Dehydrogenase, Iron Containing 1 2 3 5
  • Alcohol Dehydrogenase Iron-Containing Protein 1 3 4
  • EC 1.1.99.24 4 63
  • HOT 3 4
  • Alcohol Dehydrogenase, Iron Containing, 1 3
  • Fe-Containing Alcohol Dehydrogenase 1 3
  • Hydroxyacid-Oxoacid Transhydrogenase 2
  • Fe-Containing Alcohol Dehydrogenase 4
  • Alcohol Dehydrogenase 8 3
  • HMFT2263 3
  • ADHFe1 4
  • ADH8 3

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. Diseases associated with ADHFE1 include d-2-hydroxyglutaric aciduria. 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 oxidoreductase activity and 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

Promoters for ADHFE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADHFE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADHFE1 Gene

Chromosome:
8
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

Genes around ADHFE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADHFE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for ADHFE1 Gene

Gene Families for ADHFE1 Gene

Protein Domains for ADHFE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWW8

UniProtKB/Swiss-Prot:

HOT_HUMAN :
  • Belongs to the iron-containing alcohol dehydrogenase family. Hydroxyacid-oxoacid transhydrogenase subfamily.
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 IEA --
GO:0047988 hydroxyacid-oxoacid transhydrogenase activity IDA 16435184
genes like me logo Genes that share ontologies with ADHFE1: view
genes like me logo Genes that share phenotypes with ADHFE1: view

Animal Model Products

CRISPR Products

miRNA for ADHFE1 Gene

miRTarBase miRNAs that target ADHFE1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 5

No data available for Gene Ontology (GO) - Cellular Components for ADHFE1 Gene

Pathways & Interactions 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:0015993 molecular hydrogen transport IDA 16435184
GO:0044237 cellular metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ADHFE1: view

No data available for SIGNOR curated interactions for ADHFE1 Gene

Drugs & Compounds for ADHFE1 Gene

(4) Drugs for ADHFE1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gamma Hydroxybutyric Acid Approved, Illicit Pharma 0
1-Butanol Experimental Pharma 0
1-Proponol Experimental Pharma 0
Acetoacetic acid Experimental Pharma 0

(10) Additional Compounds for ADHFE1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-3-Hydroxybutyric acid
  • (+)-3-Hydroxy-N-butyric acid
  • (+)-3-Hydroxybutyric acid
  • (3S)-3-hydroxy-Butanoate
  • (3S)-3-hydroxy-Butanoic acid
  • (3S)-3-Hydroxybutyric acid
6168-83-8
1-Hexanol
  • 1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Alcohol C-6
  • Alcohol(C6)
111-27-3
1-Pentanol
  • 1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Alcool amylique (french)
71-41-0
2-hydroxyglutarate
D-2-Hydroxyglutaric acid
  • (R)-2-hydroxy-Pentanedioate
  • (R)-2-hydroxy-Pentanedioic acid
  • (R)-2-Hydroxyglutarate
  • (R)-2-Hydroxyglutaric acid
  • (R)-a-Hydroxyglutarate
2889-31-8
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:

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 from HIPED for ADHFE1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ADHFE1: view

Protein tissue co-expression partners for ADHFE1 Gene

Primer Products

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 36
  • 58 (a)
OneToOne
T3dh 35
  • 59.71 (n)
  • 59.34 (a)
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
VAR_039470 A breast cancer sample
rs1060242 - 66,468,293(+) CACCC(C/T)GTCCC reference, missense
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

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

Variation tolerance for ADHFE1 Gene

Residual Variation Intolerance Score: 24.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.65% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(1) MalaCards diseases for ADHFE1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
d-2-hydroxyglutaric aciduria
  • combined d-2- and l-2-hydroxyglutaric aciduria
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ADHFE1

Genetic Association Database (GAD)
ADHFE1
Human Genome Epidemiology (HuGE) Navigator
ADHFE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADHFE1
genes like me logo Genes that share disorders with ADHFE1: view

No data available for UniProtKB/Swiss-Prot 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 67
  2. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3
  3. Alcohol induces cell proliferation via hypermethylation of ADHFE1 in colorectal cancer cells. (PMID: 24886599) Moon J.W. … Park S.H. (BMC Cancer 2014) 3
  4. Alcohol dehydrogenase, iron containing, 1 promoter hypermethylation associated with colorectal cancer differentiation. (PMID: 23517143) Tae C.H. … Kim Y.H. (BMC Cancer 2013) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for ADHFE1 Gene

Sources for ADHFE1 Gene

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