Free for academic non-profit institutions. Other users need a Commercial license

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 61
  • HOT 3 4
  • 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
  • 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 Pyruvate metabolism and Citric Acid (TCA) cycle 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 CIViC summary , 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

Enhancers for ADHFE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G066452 1.4 Ensembl ENCODE dbSUPER 27 +22.7 22685 2.1 HDAC1 NFRKB TCF12 ZBTB11 USF2 CEBPB ELF1 ZEB2 ZNF592 TFDP1 C8orf46 ADHFE1 RRS1 RRS1-AS1 LOC102724687
GH08G066454 1 ENCODE dbSUPER 26.4 +26.1 26133 2.7 KLF1 GTF2E2 JUN DDX20 MAX ZNF140 SIN3A RBBP5 FOSL1 ZNF316 C8orf46 ADHFE1 RRS1-AS1 RRS1 LOC102724687
GH08G066427 1.4 ENCODE dbSUPER 18.6 +0.5 460 5.6 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ADHFE1 C8orf46 LOC102724687
GH08G066438 1.4 Ensembl ENCODE dbSUPER 16.8 +9.8 9765 3.9 HDAC1 PKNOX1 RB1 ARID4B SIN3A ZNF2 RAD21 ZNF121 EGR1 ZNF143 C8orf46 ADHFE1 ENSG00000272010 LOC102724687
GH08G066458 1.4 Ensembl ENCODE dbSUPER 16.2 +31.7 31686 6.5 PKNOX1 FOXA2 RAD21 RARA SCRT2 FOS MIXL1 ZNF654 CEBPB REST C8orf46 ADHFE1 RNU6-1324P LOC100131770
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADHFE1 on UCSC Golden Path with GeneCards custom track

Promoters for ADHFE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225393 316 5000 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

Selected DME Specific Peptides for ADHFE1 Gene

Q8IWW8:
  • LADTLRKFL
  • VDHPLVPHGLSVVLTSPAVF
  • QMFPERHLE
  • GTLPQER
  • YQGSNPISD
  • LKRAVRNPDD
  • PLIAVPTT
  • GFGNAGVHLCHG
  • GTGSETTGVAIFD

Post-translational modifications for ADHFE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0004022 alcohol dehydrogenase (NAD) activity IBA --
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0047988 hydroxyacid-oxoacid transhydrogenase activity EXP,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

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADHFE1 gene
Compartment Confidence
mitochondrion 5
cytosol 3

Gene Ontology (GO) - Cellular Components for ADHFE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS,IBA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IBA --
genes like me logo Genes that share ontologies with ADHFE1: view

Pathways & Interactions for ADHFE1 Gene

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

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: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

(3) Drugs for ADHFE1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gamma Hydroxybutyric Acid Approved, Illicit Pharma 0
Isopropyl alcohol Approved Pharma 0
Acetoacetic acid Experimental Pharma 0

(11) 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-Butanol
  • 1-Butanol
  • 1-Butyl alcohol
  • Butanol
  • Butyl alcohol
  • Butyl hydroxide
71-36-3
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
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

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ADHFE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADHFE1 Gene:

ADHFE1

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.

Evidence on tissue expression from TISSUES for ADHFE1 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Muscle(4.4)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with ADHFE1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ADHFE1 34
  • 96.04 (n)
dog
(Canis familiaris)
Mammalia ADHFE1 34 35
  • 90.54 (n)
cow
(Bos Taurus)
Mammalia ADHFE1 34 35
  • 88.32 (n)
oppossum
(Monodelphis domestica)
Mammalia ADHFE1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adhfe1 34 16 35
  • 87.11 (n)
rat
(Rattus norvegicus)
Mammalia Adhfe1 34
  • 85.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADHFE1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADHFE1 34 35
  • 77.75 (n)
lizard
(Anolis carolinensis)
Reptilia ADHFE1 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adhfe1 34
  • 73.79 (n)
MGC75621 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15864 34
zebrafish
(Danio rerio)
Actinopterygii adhfe1 34 35
  • 69.15 (n)
Dr.16867 34
fruit fly
(Drosophila melanogaster)
Insecta T3dh 34 35
  • 59.71 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta HOT_ANOGA 34
  • 58.53 (n)
worm
(Caenorhabditis elegans)
Secernentea Y38F1A.6 34 35
  • 52.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADH4 35 37
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4228 35
  • 62 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04078 34
  • 56.56 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12418 34
Species where no ortholog for ADHFE1 was found in the sources mined by GeneCards:
  • 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
rs1000219802 -- 66,431,036(+) GAACC(G/T)GGGAG intron-variant, upstream-variant-2KB
rs1000262365 -- 66,446,325(+) GCAAA(A/G)GCAGA intron-variant
rs1000268955 -- 66,431,222(+) GTCTG(-/T)TTTTT intron-variant, upstream-variant-2KB
rs1000279096 -- 66,446,010(+) TTTTT(A/G)TGGAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv3572801 CNV loss 25503493
esv3617484 CNV loss 21293372
nsv1026137 CNV loss 25217958
nsv1078616 CNV duplication 25765185
nsv465702 CNV loss 19166990
nsv611457 CNV loss 21841781
nsv6236 CNV deletion 18451855
nsv6237 CNV insertion 18451855

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 and GeneCards

Disorder Aliases PubMed IDs
d-2-hydroxyglutaric aciduria
  • d-2-hga
- 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 22 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. 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 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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 64

Products for ADHFE1 Gene

Sources for ADHFE1 Gene

Content
Loading form....