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Information on EC 1.1.99.24 - hydroxyacid-oxoacid transhydrogenase and Organism(s) Homo sapiens and UniProt Accession Q8IWW8

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IUBMB Comments
4-Hydroxybutanoate and (R)-2-hydroxyglutarate can also act as donors; 4-oxobutanoate can also act as acceptor.
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This record set is specific for:
Homo sapiens
UNIPROT: Q8IWW8
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Word Map
The taxonomic range for the selected organisms is: Homo sapiens
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria, Archaea
Synonyms
adhfe1, hydroxyacid-oxoacid transhydrogenase, alcohol dehydrogenase iron containing 1, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
alcohol dehydrogenase iron containing 1
-
hydroxyacid-oxoacid transhydrogenase
-
iron-dependent alcohol dehydrogenase ADHFe1
-
transhydrogenase, hydroxy acid-oxo acid
REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
redox reaction
-
-
-
-
oxidation
-
-
-
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reduction
-
-
-
-
transhydrogenation
-
-
SYSTEMATIC NAME
IUBMB Comments
(S)-3-hydroxybutanoate:2-oxoglutarate oxidoreductase
4-Hydroxybutanoate and (R)-2-hydroxyglutarate can also act as donors; 4-oxobutanoate can also act as acceptor.
CAS REGISTRY NUMBER
COMMENTARY hide
117698-31-4
-
SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
4-hydroxybutanoic acid + 2-oxoglutarate
succinic semialdehyde + D-2-hydroxyglutarate
show the reaction diagram
-
-
-
?
3-hydroxybutyrate + 2-oxoglutarate
succinic semialdehyde + D-2-hydroxyglutarate
show the reaction diagram
4-hydroxybutyrate + 2-oxoglutarate
D-2-hydroxyglutarate + succinate semialdehyde
show the reaction diagram
-
-
-
-
?
additional information
?
-
-
D-2-hydroxyglutaric aciduria is not associated to the enzyme activity
-
-
?
NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
3-hydroxybutyrate + 2-oxoglutarate
succinic semialdehyde + D-2-hydroxyglutarate
show the reaction diagram
-
-
-
-
r
4-hydroxybutyrate + 2-oxoglutarate
D-2-hydroxyglutarate + succinate semialdehyde
show the reaction diagram
-
-
-
-
?
additional information
?
-
-
D-2-hydroxyglutaric aciduria is not associated to the enzyme activity
-
-
?
COFACTOR
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
NAD(P)+
2-oxoglutarate serves as an intermediate acceptor to generate NAD(P)H
additional information
-
KM VALUE [mM]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
0.077
2-oxoglutarate
-
+/-0.009 mM, in overexpressed HEK cells, in presence of 0.1 mM 4-hydroxybutyrate
0.067
4-hydroxybutyrate
-
+/-0.012 mM, in overepressed HEK cells, in presence of 0.5 mM 2-oxoglutarate
SPECIFIC ACTIVITY [µmol/min/mg]
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
additional information
-
assay method optimization, overview
pH OPTIMUM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
7.5
-
assay at
TEMPERATURE OPTIMUM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
37
-
assay at
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
-
UniProt
Manually annotated by BRENDA team
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
-
of healthy subjects and patients with D-2-hydroxyglutaric aciduria
Manually annotated by BRENDA team
-
mouse homologue expressed in
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
dysregulated ADHFE1 may participate in cancer progression by regulation of metabolic process, DNA replication, and cell cycle
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
HOT_HUMAN
467
0
50308
Swiss-Prot
Mitochondrion (Reliability: 1)
EXPRESSION
ORGANISM
UNIPROT
LITERATURE
ADHFE1 expression is regulated by DNA methylation. ADHFE1 is frequently downregulated and hypermethylated in various cancer cell lines and tissue samples. High expression of ADHFE1 is positively associated with favorable patient prognosis in breast, colon, and gastric cancers
APPLICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
diagnostics
AHDFE1 mRNA expression and DNA methylation can potentially be used as diagnostic markers in cancer and might be of great value in predicting the survival of patients with cancer. High expression of ADHFE1 is positively associated with favorable patient prognosis in breast, colon, and gastric cancers
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Kardon, T.; Noel, G.; Vertommen, D.; Van Schaftingen, E.
Identification of the gene encoding hydroxyacid-oxoacid transhydrogenase, an enzyme that metabolizes 4-hydroxybutyrate
FEBS Lett.
580
2347-2350
2006
Homo sapiens, Mus musculus, Rattus norvegicus
Manually annotated by BRENDA team
Struys, E.A.; Verhoeven, N.M.; Ten Brink, H.J.; Wickenhagen, W.V.; Gibson, K.M.; Jakobs, C.
Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias
J. Inherit. Metab. Dis.
28
921-930
2005
Homo sapiens
Manually annotated by BRENDA team
Lyon, R.C.; Johnston, S.M.; Panopoulos, A.; Alzeer, S.; McGarvie, G.; Ellis, E.M.
Enzymes involved in the metabolism of gamma-hydroxybutyrate in SH-SY5Y cells: identification of an iron-dependent alcohol dehydrogenase ADHFe1
Chem. Biol. Interact.
178
283-287
2009
Homo sapiens (Q8IWW8), Homo sapiens
Manually annotated by BRENDA team
Chen, Q.; Wu, Q.; Peng, Y.
ADHFE1 is a correlative factor of patient survival in cancer
Open Life Sci.
16
571-582
2021
Homo sapiens (Q8IWW8), Homo sapiens
Manually annotated by BRENDA team