4.3.2.1: argininosuccinate lyase
This is an abbreviated version!
For detailed information about argininosuccinate lyase, go to the full flat file.
Word Map on EC 4.3.2.1
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4.3.2.1
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ornithine
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arginase
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citrulline
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transcarbamylase
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ammonia
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aciduria
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l-arginine
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hyperammonemia
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duck
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delta-crystallins
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carbamyl
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lenses
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carbamoyltransferase
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carbamoylphosphate
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citrullinemia
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urea-cycle
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n-acetylglutamate
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ureotelic
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medicine
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ureogenesis
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6.3.4.5
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reptilian
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pharmacology
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drug development
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diagnostics
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analysis
- 4.3.2.1
- ornithine
- arginase
- citrulline
-
transcarbamylase
- ammonia
- aciduria
- l-arginine
-
hyperammonemia
- duck
-
delta-crystallins
-
carbamyl
- lenses
-
carbamoyltransferase
- carbamoylphosphate
- citrullinemia
-
urea-cycle
- n-acetylglutamate
-
ureotelic
- medicine
-
ureogenesis
-
6.3.4.5
-
reptilian
- pharmacology
- drug development
- diagnostics
- analysis
Reaction
Synonyms
AL, ARG4, ArgH, arginine-succinate lyase, argininosuccinase, Argininosuccinate lyase, argininosuccinic acid lyase, Arginosuccinase, ASAL, ASL, delta2 crystallin, delta2-crystallin, hASL, L-argininosuccinate arginine-lyase, lyase, argininosuccinate, Rv1659
ECTree
4.3.2.1 argininosuccinate lyaseAdvanced search results
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results (Engineering
Engineering on EC 4.3.2.1 - argininosuccinate lyase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
S384A
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catalytic efficiency is decreased by an order of magnitude in comparison to wild-type delta II crystallin
Y323F
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catalytic efficiency is decreased by an order of magnitude in comparison to wild-type delta II crystallin
D31N
missense mutation found in patients with late onset of argininosuccinic aciduria, residual activity
E189G
the mutant enzyme decreased enzyme efficiency (78% of wild-type), no significant decrease in Km-value, displays thermal instability
E73K
missense mutation found in patient with neonatal onset of argininosuccinic aciduria, enzyme inactive
I100T
the mutant enzyme decreased enzyme efficiency (61% of wild-type), no significant decrease in Km-value, displays thermal instability
M382R
missense mutation found in patient with neonatal onset of argininosuccinic aciduria, residual activity
Q286R
R113Q
R182Q
missense mutation found in patient with late onset of argininosuccinic aciduria, enzyme inactive
R186Q
missense mutation found in patient with neonatal onset of argininosuccinic aciduria, residual activity
R236W
R297Q
missense mutation found in patient with late onset of argininosuccinic aciduria, residual activity
R456W missense mutation found in patient with neonatal onset of argininosuccinic aciduria
residual activity
R95C
the mutant enzyme decreased enzyme efficiency (32% of wild-type), no significant decrease in Km-value, displays thermal instability
V178M
V335L
C441A
striking decrease in the enzymatic activity, while retaining the overall secondary to quaternary structure of the protein
C441S
significant increase in activity, as compared to the wild-type enzyme, the mutant enzyme has higher thermal stability and maintains significant activity at high temperatures. The mutant shows a marked increase in enzymatic activity as it lacks this cysteine dependent feedback inhibition
C441A
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striking decrease in the enzymatic activity, while retaining the overall secondary to quaternary structure of the protein
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C441S
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significant increase in activity, as compared to the wild-type enzyme, the mutant enzyme has higher thermal stability and maintains significant activity at high temperatures. The mutant shows a marked increase in enzymatic activity as it lacks this cysteine dependent feedback inhibition
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R140L
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naturally occuring mutation of variant OsASL1.1, which renders the enzyme catalytically inactive
additional information
Q286R
missense mutation found in patient with neonatal onset of argininosuccinic aciduria, enzyme inactive
R113Q
missense mutation found in patient with neonatal onset of argininosuccinic aciduria, enzyme inactive
R113Q
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site-directed mutagenesis, the R113Q mutation abolishes the catalytic activity of the enzyme without affecting its protein stability
R236W
missense mutation found in patient with neonatal onset of argininosuccinic aciduria, enzyme inactive
R236W
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site-directed mutagenesis, catalytically inactive mutant, that is structurally intact
V178M
missense mutation combined with mutation R186Q on the other allele found in patient with neonatal onset of argininosuccinic aciduria, enzyme activity reduced compared to wild-type
V335L
missense mutation found in patients with late onset of argininosuccinic aciduria, enzyme activity reduced compared to wild-type
V335L
the mutant enzyme decreased enzyme efficiency (48% of wild-type), no significant decrease in Km-value, displays thermal instability
additional information
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the mutations E86A and R113W identified on separate alleles are most likely to determine ASL-deficiency in a severely affected patient with neonatal onset of the disease
additional information
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expression of mutant ASL proteins in Escherichia coli. The known classical p.Q286R, the novel classical p.K315E and the known mutations p.I100T, p.E189G and p.R385C, which all have been linked to a mild phenotype of argininosuccinic aciduria, show no significant residual activity. There is some enzyme activity detected with the p.V178M (5% of wild-type), and p.R379C (10% of wild-type) mutations in which Km values for argininosuccinic acid differs significantly from the wild-type ASL protein
additional information
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construction of an asl gene-deleted mutant strain S2308DELTAASL by allelic exchange involving insertion of a chloramphenicol resistance cassette in a BamHI site
additional information
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generation of enterocyte-specific knockout mice of the enzyme Asl by intercrossing Aslflox/flox mice with transgenic mice expressing Cre recombinase under the control of the villin promoter. Emgineered mice are grossly indistinguishable from their littermate Aslflox/flox controls and exhibit similar growth curves and life span. Enterocytes isolated from mutant mice demonstrate an 80% reduction in mRNA expression of the enzyme
additional information
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construction of an asl gene-deleted mutant strain S2308DELTAASL by allelic exchange involving insertion of a chloramphenicol resistance cassette in a BamHI site
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additional information
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isolation of the osred1, i.e. Oryza sativa root elongation defect, mutant from a short root-phenotype Tos-17 transposon insertion line, NE7046
additional information
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knock-down of enzyme Asl in IEC-6 cells using lentivirus encoding shRNA targeting the enzyme. Loss of the enzyme impairs the migration of IEC-6 cells during conditions of stress
