Cloned (Comment) | Organism |
---|---|
expression in Escherichia coli | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
689insT | recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability | Homo sapiens |
840delT | recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability | Homo sapiens |
A198V | recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability | Homo sapiens |
D267G | recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability | Homo sapiens |
H260A | recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability | Homo sapiens |
K197Q | recessive mutation associated with ataxia but not oculomotor apraxia, mild presentation allele | Homo sapiens |
P206L | recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability | Homo sapiens |
R199H | recessive mutation associated with ataxia and oculomotor apraxia, protein retains substantial function, consistent with altered activity | Homo sapiens |
V263G | recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability | Homo sapiens |
W279R | recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability | Homo sapiens |
W279X | recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability | Homo sapiens |
KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.0131 | - |
Gppp-BODIPY | pH 7.2, 22°C | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q7Z2E3 | - |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
Gppp-BODIPY + H2O | - |
Homo sapiens | ? | - |
? | |
additional information | aprataxin possesses an active-site-dependent AMP-lysine and GMP-lysine hydrolase activity that depends additionally on the zinc finger for protein stability and on the forkhead associated domain for enzymatic activity. Aprataxin also shows adenosine-5'-diphospho-5'-[DNA] diphosphatase activity, reaction of EC 3.1.11.7 | Homo sapiens | ? | - |
? |
Turnover Number Minimum [1/s] | Turnover Number Maximum [1/s] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.0004 | - |
Gppp-BODIPY | pH 7.2, 22°C | Homo sapiens |
kcat/KM Value [1/mMs-1] | kcat/KM Value Maximum [1/mMs-1] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.031 | - |
Gppp-BODIPY | pH 7.2, 22°C | Homo sapiens |