Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Human glucokinase gene: isolation, structural characterization, and identification of a microsatellite repeat polymorphism.
Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus.
Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.
Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.
Human pancreatic beta-cell glucokinase: cDNA sequence and localization of the polymorphic gene to chromosome 7, band p 13.
Human islet glucokinase gene. Isolation and sequence analysis of full-length cDNA.
Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs.
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The two liver mRNAs differ in translation efficiency, while their relative protein activity was left unresolved.
"biological activity of the
two isoforms of human glucokinase and their possible developmental and/or
metabolic regulation remain to be determined"
Sugar specificity of human beta-cell glucokinase: correlation of molecular models with kinetic measurements.
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Human beta-cell GCK directly phosphorylates several sugars, with glucose and mannose having the highest measured efficiencies in this assay.
"glucose = mannose >
deoxyglucose > fructose = glucosamine"
Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations.
Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.
Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase B.
Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.
Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.
Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.
Glucokinase gene variants in the common form of NIDDM.
Identification of glucokinase mutations in subjects with gestational diabetes mellitus.
Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Familial hyperinsulinism caused by an activating glucokinase mutation.
Organization of the human glucokinase regulator gene GCKR.
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
Glucokinase regulatory protein is essential for the proper subcellular localisation of liver glucokinase.
Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.
Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.
Neonatal diabetes mellitus due to complete glucokinase deficiency.
Characterization of glucokinase-binding protein epitopes by a phage-displayed peptide library. Identification of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase as a novel interaction partner.
The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.
Glucokinase is the likely mediator of glucosensing in both glucose-excited and glucose-inhibited central neurons.
Human chromosome 7: DNA sequence and biology.
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase.
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Glucose-dependent structural rearrangement supports the monomeric enzyme activation mechanism.
"global conformational change, including domain
reorganization, is induced by glucose binding"
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability.
Glucokinase regulatory protein is associated with mitochondria in hepatocytes.
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations.
Effects of glucose and insulin on glucokinase activity in rat hypothalamus.
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.
Role of the transcription factor sox4 in insulin secretion and impaired glucose tolerance.
Activating mutations in the human glucokinase gene revealed by genetic selection.
Discovery of novel 3,6-disubstituted 2-pyridinecarboxamide derivatives as GK activators.
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
Large islets, beta-cell proliferation, and a glucokinase mutation.
Effects of GCK, GCKR, G6PC2 and MTNR1B variants on glucose metabolism and insulin secretion.
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
The active conformation of human glucokinase is not altered by allosteric activators.
Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
Structural basis for regulation of human glucokinase by glucokinase regulatory protein.
Identification of the ubiquitin-like domain of midnolin as a new glucokinase interaction partner.
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.
A reference map of the human binary protein interactome.
Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniPathway vocabulary mapping
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic Gene Ontology annotation based on Rhea mapping
Combined Automated Annotation using Multiple IEA Methods
NPC transports GCK1:GCKR from cytosol to nucleoplasm
cytosolic GCK1:GKRP complex <=> glucokinase (GCK1) + glucokinase regulatory protein (GKRP)
nucleoplasmic GCK1:GCKR complex => glucokinase (GCK1) + glucokinase regulatory protein (GCKR)
glucokinase (GCK1) + glucokinase regulatory protein (GKRP) <=> GCK1:GKRP complex
NPC exports GCK1 from nucleus
Defective GCK does not phosphorylate Glc to form G6P
Defective NPC does not transport GCK1:GKRP from cytosol to nucleoplasm
HK1,2,3,GCK,HKDC1 phosphorylate Glc to form G6P
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
UniProtKB P35557: human glucokinase
Regulation of Glucokinase by Glucokinase Regulatory Protein
Regulation of gene expression in beta cells
Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
BAD and glucokinase reside in a mitochondrial complex that integrates glycolysis and apoptosis.