Cloned (Comment) | Organism |
---|---|
recombinant expression of MBP-fusion wild-type and mutant enzymes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
F557X | site-directed mutagenesis, a ALAS2 exon 11, c.1670-1671TC>GA mutation | Homo sapiens |
additional information | generation of two deletion mutants DELTAAT and DELTAAGTG enzymes. Compared to the purified wild-type enzyme, the deletion mutants show 1.8 and 3.1fold increased activity,respectively, compared to the wild-type enzyme | Homo sapiens |
Q548X | naturally occuring mutation involved in X-linked protoporphyria, 1.6fold increased activity compared to the wild-type enzyme. The increased activity Q548X enzyme does not bind to succinyl-CoA synthetase | Homo sapiens |
KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.0357 | - |
succinyl-CoA | pH 7.4, 37°C, recombinant mutant DELTAAGTG | Homo sapiens | |
0.0398 | - |
succinyl-CoA | pH 7.4, 37°C, recombinant mutant DELTAAT | Homo sapiens | |
0.0401 | - |
succinyl-CoA | pH 7.4, 37°C, recombinant mutant DELTAG | Homo sapiens | |
0.0407 | - |
succinyl-CoA | pH 7.4, 37°C, recombinant wild-type enzyme | Homo sapiens | |
7.5 | - |
glycine | pH 7.4, 37°C, recombinant mutant DELTAAGTG | Homo sapiens | |
7.7 | - |
glycine | pH 7.4, 37°C, recombinant mutant F557X | Homo sapiens | |
9.3 | - |
glycine | pH 7.4, 37°C, recombinant wild-type enzyme | Homo sapiens | |
12 | - |
glycine | pH 7.4, 37°C, recombinant mutant Q548X | Homo sapiens | |
13 | - |
glycine | pH 7.4, 37°C, recombinant mutant DELTAAT | Homo sapiens | |
13.5 | - |
glycine | pH 7.4, 37°C, recombinant mutant DELTAG | Homo sapiens | |
36.3 | - |
succinyl-CoA | pH 7.4, 37°C, recombinant mutant F557X | Homo sapiens | |
52.4 | - |
succinyl-CoA | pH 7.4, 37°C, recombinant mutant Q548X | Homo sapiens |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
52000 | - |
x * 54000, recombinant wild-type enzyme, SDS-PAGE, x * 52000, recombinant mutant F557X, SDS-PAGE | Homo sapiens |
54000 | - |
x * 54000, recombinant wild-type enzyme, SDS-PAGE, x * 52000, recombinant mutant F557X, SDS-PAGE | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
succinyl-CoA + glycine | Homo sapiens | - |
5-aminolevulinate + CoA + CO2 | - |
r |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P22557 | gene alas2 | - |
Purification (Comment) | Organism |
---|---|
recombinant MBP-fusion wild-type and mutant enzymes 29-114fold by amylose affinity chromatography and gel filtration | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
succinyl-CoA + glycine | - |
Homo sapiens | 5-aminolevulinate + CoA + CO2 | - |
r |
Subunits | Comment | Organism |
---|---|---|
? | x * 54000, recombinant wild-type enzyme, SDS-PAGE, x * 52000, recombinant mutant F557X, SDS-PAGE | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
ALAS2 | - |
Homo sapiens |
erythroid-specific 5-aminolevulinate synthase | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
Temperature Stability Minimum [°C] | Temperature Stability Maximum [°C] | Comment | Organism |
---|---|---|---|
additional information | - |
comparison of thermostability of wild-type and mutant ALAS2 aApoenzymes, overview | Homo sapiens |
45 | - |
t1/2 of the wild-type is 11.7 min, and t1/2 of mutant enzymes are between 3.8 and 12.8 min | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
7.4 | - |
assay at | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
pyridoxal 5'-phosphate | dependent on, wild-type Km is 0.0000215 nM, Km values of mutant enzymes are between 0.0000062 nM and 0.00065 nM | Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | X-linked protoporphyria is a erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific aminolevulinate synthase gene (ALAS2). Two exon 11 small deletions, c.1699_1670DELTAAT and c.1706_1709DELTAAGTG (DELTAAGTG), that prematurely truncate or elongate the ALAS2 polypeptide, are reported to increase enzymatic activity 20 to 40fold, causing the erythroid accumulation of protoporphyrins, cutaneous photosensitivity and liver disease | Homo sapiens |