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Literature summary for 6.1.1.12 extracted from

  • Scheper, G.C.; van der Klok, T.; van Andel, R.J.; van Berkel, C.G.; Sissler, M.; Smet, J.; Muravina, T.I.; Serkov, S.V.; Uziel, G.; Bugiani, M.; Schiffmann, R.; Kraegeloh-Mann, I.; Smeitink, J.A.; Florentz, C.; Van Coster, R.; Pronk, J.C.; van der Knaap, M.S.
    Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (2007), Nat. Genet., 39, 534-539.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene DARS2, located on chromosome 1, DNA and amino acid sequence determination and analysis, expression analysis, genotyping Homo sapiens

Protein Variants

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 [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

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Metals/Ions

Metals/Ions Comment Organism Structure
Mg2+
-
Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
gene DARS2
-

Source Tissue

Source Tissue Comment Organism Textmining
brain stem
-
Homo sapiens
-
fibroblast
-
Homo sapiens
-
lymphoblast
-
Homo sapiens
-
spinal cord
-
Homo sapiens
-

Specific Activity [micromol/min/mg]

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 and Products (Substrate)

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 [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
assay at Homo sapiens

Turnover Number [1/s]

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

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.5
-
assay at Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
Homo sapiens