Cloned (Comment) | Organism |
---|---|
gene DARS2, located on chromosome 1, DNA and amino acid sequence determination and analysis, expression analysis, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
C152F | the mutant shows 14fold reduced activity compared to the wild-type enzyme | Homo sapiens |
D560V | the mutant shows 400fold reduced activity compared to the wild-type enzyme | Homo sapiens |
L626V | the mutant shows 210fold reduced activity compared to the wild-type enzyme | Homo sapiens |
additional information | enzyme deficiency leads to autosomal recessive disease leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, i.e. LBSL, often manifesting in early childhood, affected individuals develop slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline, phenotype, mutational analysis, overview | Homo sapiens |
Q184K | the mutant shows 170fold reduced activity compared to the wild-type enzyme | Homo sapiens |
R263Q | the mutant shows 260fold reduced activity compared to the wild-type enzyme | Homo sapiens |
KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.00072 | - |
tRNAAsp | pH 7.5, 37°C, recombinant wild-type enzyme | Homo sapiens | |
0.00074 | - |
tRNAAsp | pH 7.5, 37°C, recombinant mutant C152F | Homo sapiens | |
0.00128 | - |
tRNAAsp | pH 7.5, 37°C, recombinant mutant Q184K | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Mg2+ | - |
Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + L-aspartate + tRNAAsp | Homo sapiens | enzyme deficiency or mutation is involved in development of autosomal recessive disease leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, i.e. LBSL, often manifesting in early childhood, overview | AMP + diphosphate + aspartyl-tRNAAsp | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene DARS2 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain stem | - |
Homo sapiens | - |
fibroblast | - |
Homo sapiens | - |
lymphoblast | - |
Homo sapiens | - |
spinal cord | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
0.025 | - |
recombinant wild-type enzyme | Homo sapiens |
0.063 | - |
recombinant mutant D560V | Homo sapiens |
0.097 | - |
recombinant mutant R263Q | Homo sapiens |
0.12 | - |
recombinant mutant L626V | Homo sapiens |
0.15 | - |
recombinant mutant Q184K | Homo sapiens |
1.75 | - |
recombinant mutant C152F | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + L-aspartate + tRNAAsp | - |
Homo sapiens | AMP + diphosphate + aspartyl-tRNAAsp | - |
? | |
ATP + L-aspartate + tRNAAsp | enzyme deficiency or mutation is involved in development of autosomal recessive disease leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, i.e. LBSL, often manifesting in early childhood, overview | Homo sapiens | AMP + diphosphate + aspartyl-tRNAAsp | - |
? |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
Turnover Number Minimum [1/s] | Turnover Number Maximum [1/s] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.00016 | - |
tRNAAsp | pH 7.5, 37°C, recombinant mutant Q184K | Homo sapiens | |
0.0016 | - |
tRNAAsp | pH 7.5, 37°C, recombinant mutant C152F | Homo sapiens | |
0.027 | - |
tRNAAsp | pH 7.5, 37°C, recombinant wild-type enzyme | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
7.5 | - |
assay at | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
ATP | - |
Homo sapiens |