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1.5.5.1: electron-transferring-flavoprotein dehydrogenase

This is an abbreviated version!
For detailed information about electron-transferring-flavoprotein dehydrogenase, go to the full flat file.

Word Map on EC 1.5.5.1

Reaction

reduced electron-transferring flavoprotein
+
ubiquinone
=
electron-transferring flavoprotein
+
ubiquinol

Synonyms

BCAL1468, BCAS0609, electron flavoprotein reductase, electron transfer flavoprotein, electron transfer flavoprotein dehydrogenase, electron transfer flavoprotein Q oxidoreductase, electron transfer flavoprotein ubiquinone oxidoreductase, electron transfer flavoprotein-ubiquinone oxidoreductase, electron transfer flavoprotein: ubiquinone oxidoreductase, electron transfer flavoprotein:ubiquinone oxidoreductase, electron-transfer flavoprotein-2,3-dimethoxy-5-methyl-1,4-benzoquinone oxidoreductase, electron-transfer flavoprotein-ubiquinone oxidoreductase, electron-transfer flavoprotein:ubiquinone oxidoreductase, electron-transferring flavoprotein dehydrogenase, Electron-transferring-flavoprotein dehydrogenase, ETF dehydrogenase, ETF-QO, ETF-ubiquinone oxidoreductase, ETF:QO, ETF:quinone oxidoreductase, ETF:ubiquinone oxidoreductase, EtfA2, ETFDH, ETFDH1, ETFDH2, ETFQO, let-721

ECTree

     1 Oxidoreductases
         1.5 Acting on the CH-NH group of donors
             1.5.5 With a quinone or similar compound as acceptor
                1.5.5.1 electron-transferring-flavoprotein dehydrogenase

Engineering

Engineering on EC 1.5.5.1 - electron-transferring-flavoprotein dehydrogenase

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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
G362E
-
mutation occurs in one of two beta-sheets that form the structure of the FAD binding domain likely disrupting the secondary structur. Phenotype of homozygous let-721 mutant is maternal effects lethality. F1 homozygotes have no gross morphological or developmental defects. The maternal effect lethal manifests as the self-fertilized offspring arrest as unhatched embryos. F1 worms are also self semi-sterile, as unmated homozygous mutants produce significantly fewer embryos than wild-type worms
S61F
-
affected residue lies within a conserved domain that interacts with the adenine monophosphate moiety of the FAD prosthetic group. Phenotype of homozygous let-721 mutant is maternal effects lethality. F1 homozygotes have no gross morphological or developmental defects. The maternal effect lethal manifests as the self-fertilized offspring arrest as unhatched embryos. F1 worms are also self semi-sterile, as unmated homozygous mutants produce significantly fewer embryos than wild-type worms
N338A
-
the mutation has no impact on the reduction potential for the iron-sulfur cluster and leads to a slight increase in disproportionation activity (110% relative to wild type activity)
N338T
-
the mutation has no impact on the reduction potential for the iron-sulfur cluster and leads to a slight increase in disproportionation activity (110% relative to wild type activity)
T525A
-
the mutation decreases the midpoint potentials of the iron-sulfur cluster resulting in a decrease in steady-state ubiquinone reductase activity and in electron transfer flavoprotein semiquinone disproportionation, there is no detectable effect of the mutation on the flavin midpoint potentials
Y501F
-
the mutation decreases the midpoint potentials of the iron-sulfur cluster resulting in a decrease in steady-state ubiquinone reductase activity and in electron transfer flavoprotein semiquinone disproportionation, there is no detectable effect of the mutation on the flavin midpoint potentials
Y501F/T525A
-
the mutation decreases the midpoint potentials of the iron-sulfur cluster resulting in a decrease in steady-state ubiquinone reductase activity and in electron transfer flavoprotein semiquinone disproportionation, there is no detectable effect of the mutation on the flavin midpoint potentials
F231C
-
naturally occuring mutation, the feline patient-specific mutation c.692T>G (p.F231C) in enzyme ETFDH in feline ETFDH is completely conserved in eukaryotes, and is located on the apical surface of enzyme ETFDH, receiving electrons from electron-transferring flavoprotein (ETF) causing multiple acyl-CoA dehydrogenation deficiency (MADD) in the cat, phenotype, overview
A84T/S307C
mutations identified in a chinese woman with late-onset glutaric aciduria type II. The muscle biopsy of the patient reveals lipid storage myopathy. Blood biochemical test and urine organic acid analyses are consistent with glutaric aciduria type II
C561A
-
mutant enzyme has no ubiquinone reductase activity
D218N
heterozygous, with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
G611E
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
I31T
neutral naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no effect on enzyme activity or expression, occurs together with other mutantions, overview
L262F
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
L334P
homo- or heterozygous, the latter with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts
L334P/Q222P
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II
L377P
-
the mutation is involved in the myopathic form of CoQ10 deficiency
M1T
homo- and heterozygous, the latter with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
P456L
-
the mutation affects most likely the catalytic activity and the stability of the tetramer
P483L
-
the mutation affects most likely the catalytic activity and the stability of the tetramer
P562L
heterozygous, with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
R41X/L138R
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II
R452K
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II
S82F/D218N
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts
S82P/H346R
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
W182X/P456L
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts
Y49C
heterozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
additional information