3.1.11.7: adenosine-5'-diphospho-5'-[DNA] diphosphatase
This is an abbreviated version!
For detailed information about adenosine-5'-diphospho-5'-[DNA] diphosphatase, go to the full flat file.
Word Map on EC 3.1.11.7
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3.1.11.7
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apraxia
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oculomotor
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single-strand
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ocular
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cerebellar
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early-onset
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hypoalbuminemia
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polynucleotide
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5'-adenylated
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xrcc4
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friedreich
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ataxia-oculomotor
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fen1
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forkhead-associated
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deadenylation
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medicine
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cross-complementing
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3'-phosphoglycolate
- 3.1.11.7
- apraxia
-
oculomotor
-
single-strand
-
ocular
- cerebellar
-
early-onset
- hypoalbuminemia
- polynucleotide
-
5'-adenylated
- xrcc4
- friedreich
-
ataxia-oculomotor
- fen1
-
forkhead-associated
-
deadenylation
- medicine
-
cross-complementing
-
3'-phosphoglycolate
transferred to EC 3.6.1.71
Synonyms
Synonyms
aprataxin, APTX, DNA-adenylate hydrolase, HNT3, RNA-DNA deadenylase
ECTree
3.1.11.7 adenosine-5'-diphospho-5'-[DNA] diphosphataseAdvanced search results
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results (Engineering
Engineering on EC 3.1.11.7 - adenosine-5'-diphospho-5'-[DNA] diphosphatase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
A198V
A198V/P206L
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
D185E
D267G
D267G/W279X
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
G231E
G231E/689insT
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
H138A
site-directed mutagenesis, mutation of His138 to alanine does not completely abolish the catalytic activity, the residual activity is 25% of the wild-type enzyme activity. The DNA deadenylation reaction catalyzed by the H138A mutant can proceed by the protonated substrate
H201Q
H201R
K197Q
K197Q/W279X
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
L223P
L248M
P206L
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant
R199H
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
R247X
R306X
R306X/W279X
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
S242N
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
V263G
V263G/P206L
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
W279R
W279R/IVS5
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
W279X
W279X/I159fs
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
W279X/Q181X
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
W279X/R306X
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
additional information
A198V
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant
A198V
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
D185E
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX
D185E
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
D267G
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant
D267G
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
G231E
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant
G231E
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
H201Q
naturally occuring active site mutation, the mutant displays impaired AMP-lysine hydrolase activity
H201Q
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
H201R
naturally occuring active site mutation, the mutant displays impaired AMP-lysine hydrolase activity
H201R
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
K197Q
naturally occuring mutation, the mutant displays impaired AMP-lysine hydrolase activity, confers a late onset neurological disease AOA1
K197Q
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
L223P
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant
L223P
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
L248M
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
R247X
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant
R306X
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant
R306X
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
V263G
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant
V263G
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
W279R
naturally occuring mutation, the mutant displays impaired AMP-lysine hydrolase activity, confers a late onset neurological disease AOA1
W279R
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
W279X
naturally occuring mutation causing Ataxia oculomotor apraxia type 1 (AOA1) autosomal recessive disease
W279X
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant, confers a late onset neurological disease AOA1
W279X
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1)
additional information
the biochemical and molecular abnormalities in APTX-depleted cells are recapitulated by knockdown of APE1 in Hela cells and are rescued by overexpression of NRF1/2. Importantly, pharmacological upregulation of NRF1 alone by 5-aminoimidazone-4-carboxamide ribonucleotide does not rescue the phenotype, which, in contrast, is reversed by the upregulation of NRF2 by rosiglitazone. The lack of aprataxin causes reduction of the pathway APE1/NRF1/NRF2 and their target genes. APTX-mutant fibroblasts show reduced succinate dehydrogenase. APTX-mutant fibroblasts show reduced levels and biosynthesis of CoQ10. Levels of APE1 are reduced in APTX-mutant and APTX-depleted cells. Phenotype, overview
additional information
construction of hnt3DELTA single mutants and HNT3 knockout mutants, including apn1DELTA/apn2DELTA/tpp1DELTA and ntg1DELTA/ntg2DELTA/ogg1DELTA. Loss of HNT3 in rad27DELTA cells, which are deficient in long-patch base excision repair (LP-BER), results in synergistic sensitivity to H2O2 and methylmethane sulfonate. HNT3 deletion partially rescues H2O2 sensitivity in recombination deficient rad51DELTA and rad52DELTA cells. Hnt3 point mutations and complementation with human aprataxin. Phenotypes, overview
