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Literature summary for 2.7.1.1 extracted from

  • Osbak, K.K.; Colclough, K.; Saint-Martin, C.; Beer, N.L.; Bellanne-Chantelot, C.; Ellard, S.; Gloyn, A.L.
    Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia (2009), Hum. Mutat., 30, 1512-1526.
    View publication on PubMed
Search for more literature for 2.7.1.1

Protein Variants

Protein Variants Comment Organism
A188E kinetic mutation effects are increased S0.5, decreased Hill number, decreased kcat, decreased Km for ATP Homo sapiens
A188W kinetic mutation effects are increased S0.5, decreased kcat, decreased Km for ATP Homo sapiens
A208W kinetic mutation effects are increased S0.5, decreased kcat, decreased Hill number, increased Km for ATP Homo sapiens
A378V kinetic mutation effects are increased S0.5, increased Km for ATP Homo sapiens
A456V inactivating mutation in glucokinase causing hyperinsulinemic hypoglycemia subtype glucokinase Homo sapiens
A456V kinetic mutation effects are decreased S0.5, thermostable, decreased Km for ATP, decreased Hill number, increased kcat Homo sapiens
A53S the mutant shows wild type kinetics, is thermolabile Homo sapiens
C213R kinetic mutation effects are increased S0.5, decreased Hill number, increased Km for ATP, decreased kcat Homo sapiens
C220Y inactivating mutation in glucokinase causing maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
C233R mutant shows wild type kinetics Homo sapiens
C252Y kinetic mutation effects are increased S0.5, increased Hill number, increased Km for ATP Homo sapiens
E265K kinetic mutation effects are increased S0.5, decreased thermostability, increased Km for ATP Homo sapiens
E279Q kinetic mutation effects are increased S0.5, decreased kcat Homo sapiens
E300K mutant shows kinetics same as wild type and decreased thermostability Homo sapiens
E300Q kinetic mutation effect is increased S0.5 Homo sapiens
E339G kinetic mutation effects are increased S0.5, decreased Hill number, increased Km for ATP, decreased kcat Homo sapiens
E356K kinetic mutation effects are decreased S0.5, decreased kcat Homo sapiens
E397L kinetic mutation effect is decreased thermostability Homo sapiens
E70K kinetic mutation effects are increased S0.5, decreased Hill number, decreased kcat Homo sapiens
F419L inactivating mutation in glucokinase causing maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
G175E kinetic mutation effects are increased S0.5, decreased kcat Homo sapiens
G175R kinetic mutation effects are increased S0.5, decreased Hill number, decreased kcat Homo sapiens
G261R kinetic mutation effects are increased S0.5, increased Hill number, increased Km for ATP, decreased kcat Homo sapiens
G264S mutant shows near normal kinetics, mild elevation of S0.5, slight decrease in Hill number, slightly decreased thermostability Homo sapiens
G299R kinetic mutation effects are decreased S0.5, decreased Km for ATP, decreased kcat Homo sapiens
G44S kinetic mutation effects are increased S0.5, decreased Hill number, decreased Km for ATP, decreased kcat Homo sapiens
G68V kinetic mutation effects are decreased S0.5, decreased Hill number, decreased Km for ATP, increased kcat Homo sapiens
G72R kinetic mutation effects are decreased S0.5, decreased Hill number, increased Km for ATP, decreased kcat, slightly decreased thermostabiliy Homo sapiens
G80A kinetic mutation effects are increased S0.5, decreased Hill number, decreased kcat Homo sapiens
H137R mutant shows wild type kinetics Homo sapiens
I366F inactivating mutation in glucokinase causing maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
K414E inactivating mutation in glucokinase causing maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
K414E kinetic mutation effects are increased S0.5, increased Hill number, increased Km for ATP, decreased thermostability, decreased kcat. decreased S0.5 Homo sapiens
K420E kinetic mutation effects are increased S0.5, increased Hill number Homo sapiens
L146R kinetic mutation effects are increased S0.5, decreased Hill number, decreased Km for ATP, decreased kcat Homo sapiens
L165F kinetic mutation effects are increased S0.5, decreased Hill number, increased Km for ATP, decreased kcat, decreased thermostability Homo sapiens
L309P kinetic mutation effects are increased S0.5, decreased Hill number, increased Km for ATP, decreased kcat Homo sapiens
M197I kinetic mutation effects are decreased S0.5, decreased kcat, increased Km for ATP Homo sapiens
M210K kinetic mutation effects are increased S0.5, decreased Hill number, increased Km for ATP, decreased kcat Homo sapiens
M210W kinetic mutation effects are increased S0.5, decreased Hill number, decreased kcat Homo sapiens
M224R inactivating mutation in glucokinase causing maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
M235V kinetic mutation effects are thermostability, decreased kcat Homo sapiens
M235W kinetic mutation effects are increased S0.5, decreased Hill number, decreased Km for ATP, decreased kcat Homo sapiens
M298K kinetic mutation effects are increased S0.5, decreased Hill number, increased Km for ATP, decreased kcat Homo sapiens
R275C mutant shows near wild type kinetics Homo sapiens
R308W kinetic mutation effects are increased S0.5, decreased kcat, decreased thermostability Homo sapiens
R345X inactivating mutation in glucokinase causing maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
R36W kinetic mutation effects are edecreased S0.5, decreased Km for ATP, decreased kcat Homo sapiens
R377C kinetic mutation effects are increased S0.5, decreased kcat Homo sapiens
S127P inactivating mutation in glucokinase causing maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
S131P kinetic mutation effects are increased S0.5, increased Km for ATP, decreased kcat Homo sapiens
S263P kinetic mutation effects are Increased S0.5, decreased Hill number, decreased thermostability, increased Km for ATP Homo sapiens
S336L kinetic mutation effects are decreased S0.5, decreased Hill number, increased Km for ATP, decreased kcat Homo sapiens
S383L kinetic mutation effects are increased S0.5, increased Km for ATP, decreased Hill number, decreased kcat Homo sapiens
S411F kinetic mutation effects are decreased S0.5, increased Km for ATP, decreased Hill number, decreased kcat Homo sapiens
S453L kinetic mutation effects are increased S0.5, increased Km for ATP, decreased Hill number, decreased kcat Homo sapiens
S64Y kinetic mutation effects are decreased S0.5, decreased Hill number, increased Km for ATP, decreased kcat Homo sapiens
T206M inactivating mutation in glucokinase causing maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
T228A inactivating mutation in glucokinase causing maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
V182L kinetic mutation effects are increased S0.5, increased Hill number, decreased Km for ATP Homo sapiens
V182M kinetic mutation effects are increased S0.5, decreased Hill number, decreased kcat, decreased Km for ATP Homo sapiens
V203A kinetic mutation effects are increased S0.5, decreased kcat, increased Km for ATP Homo sapiens
V226M kinetic mutation effects are increased S0.5, decreased Hill number, increased Km for ATP, decreased kcat Homo sapiens
V367M the mutant shows wild type kinetics Homo sapiens
V455E kinetic mutation effects are increased S0.5, decreased kcat Homo sapiens
V455M kinetic mutation effects are decreased S0.5, increased Km for ATP, decreased Hill number, decreased kcat Homo sapiens
V62A kinetic mutation effects are increased S0.5, decreased Hill number, decreased Km for ATP, decreased kcat Homo sapiens
V62M kinetic mutation effects are increased S0.5, decreased thermostability, decreased Hill number, decreased kcat Homo sapiens
W168A kinetic mutation effects are increased S0.5, decreased Hill number, increased Km for ATP Homo sapiens
W168P kinetic mutation effects are increased S0.5, decreased Hill number, increased Km for ATP, decreased kcat Homo sapiens
W206M kinetic mutation effects are increased S0.5, decreased Hill number, decreased kcat Homo sapiens
W209M kinetic mutation effects are decreased S0.5, increased Km for ATP, decreased kcat Homo sapiens
W228A kinetic mutation effects are decreased S0.5, decreased Hill number Homo sapiens
W257R kinetic mutation effects are decreased S0.5, decreased kcat Homo sapiens
W65I kinetic mutation effects are decreased S0.5, decreased Hill number, increased Km for ATP, decreased kcat Homo sapiens
W99L kinetic mutation effects are decreased S0.5, increased kcat Homo sapiens
W99R kinetic mutation effects are decreased S0.5, decreased Hill number, increased Km for ATP, increased kcat Homo sapiens
Y108C kinetic mutation effects are increased S0.5, decreased Hill number, decreased Km for ATP, decreased kcat Homo sapiens
Y214C kinetic mutation effect is decreased S0.5, decreased Hill number, increased Km for ATP, increased kcat Homo sapiens
Y273X inactivating mutation in glucokinase causing maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
Y61S kinetic mutation effects are increased S0.5, decreased Km for ATP Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
pancreatic beta cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + D-glucose under physiological conditions D-glucose is the preferred substrate Homo sapiens ADP + D-glucose 6-phosphate
-
 ?

Synonyms

Synonyms Comment Organism
GCK
-
 Homo sapiens
glucokinase
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction heterozygous inactivating mutations in glucokinase cause maturity-onset diabetes of the young (MODY) subtype glucokinase, characterized by mild fasting hyperglycemia Homo sapiens
physiological function glucokinase is a key regulatory enzyme in the pancreatic beta-cell, it plays a crucial role in the regulation of insulin secretion and has been termed the glucose sensor in pancreatic beta-cells Homo sapiens