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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
  • 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
  • EC 1.1.99.24 4
  • 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 1. Among its related pathways are Drug metabolism - cytochrome P450 and Metabolism. Gene Ontology (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.

Additional gene information for ADHFE1 Gene

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

GeneHancer (GH) Regulatory Elements for ADHFE1 Gene

Promoters and enhancers for ADHFE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J066427 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 668.6 +0.5 460 5.6 FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 E2F8 ADHFE1 LOC102724687 RRS1 RRS1-AS1 ENSG00000271966 ARFGEF1 C8orf44 VXN PIR44367 GC08P066013
GH08J066458 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 666.2 +31.7 31686 6.5 PKNOX1 FOXA2 RAD21 RARA ZNF143 FOS MIXL1 ZNF654 CEBPB REST VXN ADHFE1 RNU6-1324P LOC100131770
GH08J066438 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 16.8 +9.8 9764 3.9 PKNOX1 RB1 ARID4B SIN3A BATF ZNF2 RAD21 ZNF335 ZNF121 EGR1 VXN ADHFE1 ENSG00000272010 LOC102724687 GC08P066013
GH08J066605 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 12 +180.2 180192 8.8 PKNOX1 ARNT ARID4B SIN3A YY1 SLC30A9 POLR2B ZNF213 ZNF143 SP3 MYBL1 ARFGEF1 C8orf44 ADHFE1 RRS1 RRS1-AS1 VXN VCPIP1 LOC105375884 GC08M066613
GH08J066452 Enhancer 0.8 Ensembl ENCODE dbSUPER 26.9 +22.7 22685 2.1 ZNF10 CEBPB VXN ADHFE1 RRS1 RRS1-AS1 LOC102724687
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADHFE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADHFE1 gene promoter:
  • AML1a
  • GR-alpha
  • GR
  • GR-beta
  • Nkx2-5
  • NRF-2

Genomic Locations for ADHFE1 Gene

Genomic Locations for ADHFE1 Gene
chr8:66,430,185-66,471,601
(GRCh38/hg38)
Size:
41,417 bases
Orientation:
Plus strand
chr8:67,342,420-67,383,836
(GRCh37/hg19)
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

Post-translational modifications for ADHFE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ADHFE1 Gene

Domains & Families for ADHFE1 Gene

Gene Families for ADHFE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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 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.
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 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};

Enzyme Numbers (IUBMB) for ADHFE1 Gene

Phenotypes From GWAS Catalog 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 IDA,EXP 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

miRNA for ADHFE1 Gene

miRTarBase miRNAs that target ADHFE1

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

Subcellular locations from the

Human Protein Atlas (HPA)

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:0006539 glutamate catabolic process via 2-oxoglutarate 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

(7) Drugs for ADHFE1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sodium oxybate Approved Pharma Enzyme, substrate 39
Gamma Hydroxybutyric Acid Approved, Illicit, Investigational Pharma 0
Isopropyl alcohol Approved, Investigational Pharma 0
Propyl alcohol Approved, Experimental Pharma 0
1-Butanol Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-3-Hydroxybutyric acid
  • (+)-3-Hydroxybutyric acid
  • (3S)-3-Hydroxybutyric acid
  • (S)-3-Hydroxybutanoic acid
  • (S)-3Hb
  • (S)-beta-Hydroxybutyric acid
6168-83-8
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
2-hydroxyglutarate
  • alpha-Hydroxyglutaric acid
  • a-Hydroxyglutarate
  • a-Hydroxyglutaric acid
  • alpha-Hydroxyglutarate
  • α-hydroxyglutarate
D-2-Hydroxyglutaric acid
  • (R)-2-Hydroxyglutarate
  • (R)-Hydroxyglutarate
  • (R)-2-Hydroxyglutaric acid
  • D-2-Hydroxyglutarate
  • (R)-Hydroxyglutaric acid
13095-47-1
genes like me logo Genes that share compounds with ADHFE1: view

Transcripts for ADHFE1 Gene

mRNA/cDNA for ADHFE1 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(215) Selected AceView cDNA sequences:
(18) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ADHFE1 Gene

Alcohol dehydrogenase, iron containing, 1:
Representative Sequences:

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 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

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 33
  • 96.04 (n)
dog
(Canis familiaris)
Mammalia ADHFE1 34 33
  • 90.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADHFE1 34 33
  • 88.32 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADHFE1 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adhfe1 16 34 33
  • 87.11 (n)
rat
(Rattus norvegicus)
Mammalia Adhfe1 33
  • 85.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADHFE1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADHFE1 34 33
  • 77.75 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADHFE1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adhfe1 33
  • 73.79 (n)
MGC75621 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15864 33
zebrafish
(Danio rerio)
Actinopterygii adhfe1 34 33
  • 69.15 (n)
OneToOne
Dr.16867 33
fruit fly
(Drosophila melanogaster)
Insecta T3dh 34 33
  • 59.71 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta HOT_ANOGA 33
  • 58.53 (n)
worm
(Caenorhabditis elegans)
Secernentea Y38F1A.6 34 33
  • 52.25 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADH4 36 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4228 34
  • 62 (a)
OneToOne
Cin.12418 33
bread mold
(Neurospora crassa)
Ascomycetes NCU04078 33
  • 56.56 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12418 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for ADHFE1: view image

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 Variation AA Info Type
VAR_039470 A breast cancer sample p.Asp242Val
rs1000219802 -- 66,431,036(+) T/G upstream_transcript_variant
rs1000262365 -- 66,446,325(+) G/A intron_variant
rs1000268955 -- 66,431,223(+) TTTTTT/TTTTTTT upstream_transcript_variant
rs1000279096 -- 66,446,010(+) A/G intron_variant

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

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

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)

Additional Variant Information 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

Disorder Aliases PubMed IDs
d-2-hydroxyglutaric aciduria 1
  • d2hga1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADHFE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 sequence : the journal of DNA sequencing and mapping 2002) 2 3 4 22 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias. (PMID: 16435184) Struys EA … Jakobs C (Journal of inherited metabolic disease 2005) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for ADHFE1 Gene

Sources for ADHFE1 Gene

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