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This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]
GCK (Glucokinase) is a Protein Coding gene. Diseases associated with GCK include Hyperinsulinemic Hypoglycemia, Familial, 3 and Maturity-Onset Diabetes Of The Young, Type 2. Among its related pathways are Type II diabetes mellitus and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is HK2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004340 | glucokinase activity | IEA,IMP | 18322640 |
GO:0004396 | hexokinase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 11522786 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IEA,IBA | 21873635 |
GO:0005829 | cytosol | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Galactose metabolism |
Galactose metabolism
.38
|
Glycogen metabolism
.01
|
2 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.52
|
|
3 | Regulation of beta-cell development | ||
4 | CDK-mediated phosphorylation and removal of Cdc6 | ||
5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001678 | cellular glucose homeostasis | IEA,IBA | 21873635 |
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006006 | glucose metabolic process | IEA | -- |
GO:0006096 | glycolytic process | IEA,IBA | 21873635 |
GO:0006110 | regulation of glycolytic process | NAS,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
D-glucose | Approved, Experimental, Investigational, Vet_approved | Pharma | Enzyme, substrate, Target | 0 | ||
Glucosamine | Approved, Investigational | Pharma | 98 | |||
Dextrose, unspecified form | Approved, Vet_approved | Pharma | Enzyme, substrate, inducer | 0 | ||
Sorbitol | Approved | Pharma | 71 | |||
Glucose 6-phosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 | ||||
alpha-D-Glucose |
|
492-62-6 |
|
|||
Beta-D-Fructose 6-phosphate |
|
|
||||
dADP |
|
2793-06-8 |
|
|||
IDP |
|
86-04-4 |
|
Compound | Action | Cas Number |
---|---|---|
LY2608204 | GK activator | 1234703-40-2 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | · | 13c | · | 13d | · | 13e | · | 13f | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GCK 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GCK 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GCK 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GCK 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gck 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GCK 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gck 30 |
|
||
Chicken (Gallus gallus) |
Aves | GCK 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GCK 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gck 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | gck-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gck 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11643 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Hex-C 31 32 |
|
ManyToMany | |
Hex-A 31 32 |
|
ManyToMany | |||
Hex-t2 31 32 |
|
ManyToMany | |||
Hex-t1 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | F14B4.2 31 32 |
|
OneToMany | |
H25P06.1 32 |
|
|
|||
Y77E11A.1 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HXK1 31 |
|
ManyToMany | |
HXK2 31 |
|
ManyToMany | |||
GLK1 31 |
|
ManyToMany | |||
EMI2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11095 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
817706 | Likely Pathogenic: not provided | 44,145,269(-) |
CGCTCCTTGAA/C NM_000162.3:c.1255_1264delTTCAAGGAGC |
||
872750 | Likely Benign: not provided | 44,145,502(-) |
G/A NM_000162.5(GCK):c.1248C>T (p.His416=) |
SYNONYMOUS | |
872751 | Pathogenic: not provided | 44,145,620(-) |
C/A NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
872752 | Pathogenic: not provided | 44,152,327(-) |
T/A NM_000162.5(GCK):c.307A>T (p.Thr103Ser) |
MISSENSE | |
908614 | Uncertain Significance: Maturity-onset diabetes of the young, type 2; Hyperinsulinism due to glucokinase deficiency; Permanent neonatal diabetes mellitus; Transient Neonatal Diabetes, Recessive | 44,145,630(-) |
C/A NM_000162.5(GCK):c.1120G>T (p.Val374Leu) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperinsulinemic hypoglycemia, familial, 3 |
|
|
maturity-onset diabetes of the young, type 2 |
|
|
diabetes mellitus, permanent neonatal, 1 |
|
|
maturity-onset diabetes of the young |
|
|
permanent neonatal diabetes mellitus |
|
|