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Literature summary for 2.7.4.3 extracted from

  • Abrusci, P.; Chiarelli, L.R.; Galizzi, A.; Fermo, E.; Bianchi, P.; Zanella, A.; Valentini, G.
    Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia (2007), Exp. Hematol., 35, 1182-1189.
    View publication on PubMed
Search for more literature for 2.7.4.3

Application

Application Comment Organism
medicine characterization of enzyme mutations from patients deficient in red cell adenylate kinase, suffering from chronic hemolytic anemia Homo sapiens

Protein Variants

Protein Variants Comment Organism
D140del mutation identified in patient deficient in red cell adenylate kinase, suffering from chronic hemolytic anemia. 30% residual adenylate kinase activity Homo sapiens
G40R mutation identified in patient deficient in red cell adenylate kinase, suffering from chronic hemolytic anemia. 25% residual adenylate kinase activity Homo sapiens
R128W mutation identified in patient deficient in red cell adenylate kinase, suffering from chronic hemolytic anemia. 44% residual adenylate kinase activity Homo sapiens
Y164C mutation identified in patient deficient in red cell adenylate kinase, suffering from chronic hemolytic anemia. 0% residual adenylate kinase activity Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.06
-
 ATP mutant G40R, 37°C, pH 8.0 Homo sapiens
0.06
-
 ATP mutant G40R, 37°C Homo sapiens
0.07
-
 AMP mutant G40R, 37°C, pH 8.0 Homo sapiens
0.07
-
 AMP mutant G40R, 37°C Homo sapiens
0.08
-
 AMP mutant G64R, 37°C, pH 8.0 Homo sapiens
0.08
-
 AMP mutant G64R, 37°C Homo sapiens
0.13
-
 ATP wild-type, 37°C Homo sapiens
0.13
-
 ATP wild-type, 37°C, pH 8.0 Homo sapiens
0.38
-
 AMP wild-type, 37°C Homo sapiens
0.38
-
 AMP wild-type, 37°C, pH 8.0 Homo sapiens
0.38
-
 ATP mutant G64R, 37°C, pH 8.0 Homo sapiens
0.38
-
 ATP mutant G64R, 37°C Homo sapiens
0.4
-
 ATP mutant D140del, 37°C, pH 8.0 Homo sapiens
0.4
-
 ATP mutant D140del, 37°C Homo sapiens
0.5
-
 ATP mutant Y164C, 37°C, pH 8.0 Homo sapiens
0.5
-
 ATP mutant Y164C, 37°C Homo sapiens
1.01
-
 AMP mutant Y164C, 37°C, pH 8.0 Homo sapiens
1.01
-
 AMP mutant Y164C, 37°C Homo sapiens
1.03
-
 ATP mutant R11128W, 37°C, pH 8.0 Homo sapiens
1.03
-
 ATP mutant R128W, 37°C Homo sapiens
1.6
-
 AMP mutant R11128W, 37°C, pH 8.0 Homo sapiens
1.6
-
 AMP mutant R128W, 37°C Homo sapiens
1.7
-
 AMP mutant D140del, 37°C, pH 8.0 Homo sapiens
1.7
-
 AMP mutant D140del, 37°C Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
21635
-
 x * 22000, SDS-PAGE, x * 21635, calculated Homo sapiens
22000
-
 x * 22000, SDS-PAGE, x * 21635, calculated Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P00568 adenylate kinase-deficient patients with chronic hemolytic anemia
-
Homo sapiens P00568 isoform 1; patients deficient in red cell adenylate kinase, suffering from chronic hemolytic anemia
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
2000
-
 wild-type, 37°C Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
AMP + ATP
-
 Homo sapiens ADP
-
 ?
ATP + AMP
-
 Homo sapiens 2 ADP
-
 ?

Subunits

Subunits Comment Organism
? x * 22000, SDS-PAGE, x * 21635, calculated Homo sapiens

Temperature Stability [°C]

Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
53
-
 12 min, wild-type 50% residual activity, mutants G40R, G64R, R128W, D140del loss of more than 90% of initial activity. At 53°C, wild-type is strongly protected by presence of MgATP, mutants are unprotected with a little protection for mutant G40R Homo sapiens
53
-
 half-life 12 min, wild-type. In presence of MgATP, wild-type protein is stringly protected. Mutants G40R, G64R, R128W and D140del are not protected and completely lose activity within 12 min Homo sapiens

Turnover Number [1/s]

Turnover Number Minimum [1/s] Turnover Number Maximum [1/s] Substrate Comment Organism Structure
0.1
-
 ATP mutant R11128W, 37°C, pH 8.0 Homo sapiens
0.11
-
 ATP mutant G40R, 37°C, pH 8.0 Homo sapiens
0.11
-
 ATP mutant G40R, 37°C Homo sapiens
0.16
-
 AMP mutant G40R, 37°C, pH 8.0 Homo sapiens
0.16
-
 AMP mutant G40R, 37°C Homo sapiens
0.17
-
 ATP mutant D140del, 37°C, pH 8.0 Homo sapiens
0.17
-
 ATP mutant D140del, 37°C Homo sapiens
0.21
-
 AMP mutant D140del, 37°C, pH 8.0 Homo sapiens
0.21
-
 AMP mutant D140del, 37°C Homo sapiens
0.57
-
 AMP mutant Y164C, 37°C, pH 8.0 Homo sapiens
0.63
-
 AMP mutant G64R, 37°C, pH 8.0 Homo sapiens
0.63
-
 AMP mutant G64R, 37°C Homo sapiens
0.65
-
 ATP mutant G64R, 37°C, pH 8.0 Homo sapiens
0.65
-
 ATP mutant G64R, 37°C Homo sapiens
48.32
-
 ATP mutant R128W, 37°C Homo sapiens
55.3
-
 AMP mutant R11128W, 37°C, pH 8.0 Homo sapiens
55.3
-
 AMP mutant R128W, 37°C Homo sapiens
220.3
-
 ATP mutant Y164C, 37°C Homo sapiens
234.4
-
 AMP mutant Y164C, 37°C Homo sapiens
842
-
 AMP wild-type, 37°C, pH 8.0 Homo sapiens
842.3
-
 AMP wild-type, 37°C Homo sapiens
879
-
 ATP wild-type, 37°C, pH 8.0 Homo sapiens
879.5
-
 ATP wild-type, 37°C Homo sapiens