• Gene id: 2645

Gene Summary

• Gene Symbol: GCK   Gene   UCSC   Ensembl
• Aliases: FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2, PNDM1
• Gene name: glucokinase
• Alternate names: hexokinase-4, ATP:D-hexose 6-phosphotransferase, HK IV, glucokinase (hexokinase 4), hexokinase D, pancreatic isozyme, hexokinase type IV,
• Gene location: 7p13 (44189438: 44143212)     Exons: 15     NC_000007.14
• Gene summary(Entrez): 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 b

Protein Summary

• Protein general information: P35557  
  • Name: Hexokinase 4 (HK4) (EC 2.7.1.1) (Glucokinase) (Hexokinase type IV) (HK IV) (Hexokinase D)
  • Length: 465  
  • Mass: 52191
• Sequence:

  MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFL
  SLDLGGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTF
  SFPVRHEDIDKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMI
  VGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGE
  LVRLVLLRLVDENLLFHGEASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVS
  TRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAA
  LVSAVACKKACMLGQ

• Structural information:
  • Protein Domains: (10..45-)
    (/note="Hexokinase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01084"-)
  • Interpro: IPR039073  IPR001312  IPR019807  IPR022673  IPR022672  
  • Prosite: PS00378 PS51748
  • PDB: 1GLK 1V4S 1V4T 3A0I 3F9M 3FGU 3FR0 3GOI 3H1V 3ID8 3IDH 3IMX 3QIC 3S41 3VEV 3VEY 3VF6 4DCH 4DHY 4ISE 4ISF 4ISG 4IWV 4IXC 4L3Q 4LC9 4MLE 4MLH 4NO7 4RCH 5V4W 5V4X 6E0E 6E0I
  • PDBsum: 1GLK 1V4S 1V4T 3A0I 3F9M 3FGU 3FR0 3GOI 3H1V 3ID8 3IDH 3IMX 3QIC 3S41 3VEV 3VEY 3VF6 4DCH 4DHY 4ISE 4ISF 4ISG 4IWV 4IXC 4L3Q 4LC9 4MLE 4MLH 4NO7 4RCH 5V4W 5V4X 6E0E 6E0I
  • STRING: ENSP00000223366
• Other Databases: GeneCards:  GCK  Malacards:  GCK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004340	glucokinase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0008865	fructokinase activity	IBA	molecular function
GO:0019158	mannokinase activity	IBA	molecular function
GO:0001678	cellular glucose homeostasis	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0006096	glycolytic process	IBA	biological process
GO:0050796	regulation of insulin secretion	IBA	biological process
GO:0051156	glucose 6-phosphate metabolic process	IBA	biological process
GO:0004340	glucokinase activity	IDA	molecular function
GO:0004340	glucokinase activity	IMP	molecular function
GO:0004340	glucokinase activity	IMP	molecular function
GO:0051156	glucose 6-phosphate metabolic process	IMP	biological process
GO:0051156	glucose 6-phosphate metabolic process	IMP	biological process
GO:0004340	glucokinase activity	IEA	molecular function
GO:0004396	hexokinase activity	IEA	molecular function
GO:0005536	glucose binding	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0001678	cellular glucose homeostasis	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IEA	molecular function
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004396	hexokinase activity	IEA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006110	regulation of glycolytic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070509	calcium ion import	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0006739	NADP metabolic process	IEA	biological process
GO:0006006	glucose metabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004396	hexokinase activity	IEA	molecular function
GO:0004340	glucokinase activity	IEA	molecular function
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0043266	regulation of potassium ion transport	IEA	biological process
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001678	cellular glucose homeostasis	IEA	biological process
GO:0006110	regulation of glycolytic process	NAS	biological process
GO:0032869	cellular response to insulin stimulus	ISS	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0044320	cellular response to leptin stimulus	ISS	biological process
GO:0050796	regulation of insulin secretion	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0019318	hexose metabolic process	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0005536	glucose binding	IDA	molecular function
GO:0005536	glucose binding	IDA	molecular function
GO:0005536	glucose binding	IDA	molecular function
GO:0004340	glucokinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0004340	glucokinase activity	IDA	molecular function
GO:0004340	glucokinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0045725	positive regulation of glycogen biosynthetic process	IMP	biological process
GO:0045721	negative regulation of gluconeogenesis	IMP	biological process
GO:0032024	positive regulation of insulin secretion	IMP	biological process
GO:0051594	detection of glucose	IMP	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0032024	positive regulation of insulin secretion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04910	Insulin signaling pathway
hsa01200	Carbon metabolism
hsa04922	Glucagon signaling pathway
hsa04911	Insulin secretion
hsa00010	Glycolysis / Gluconeogenesis
hsa04917	Prolactin signaling pathway
hsa00520	Amino sugar and nucleotide sugar metabolism
hsa04930	Type II diabetes mellitus
hsa05230	Central carbon metabolism in cancer
hsa00500	Starch and sucrose metabolism
hsa00052	Galactose metabolism
hsa04950	Maturity onset diabetes of the young
hsa00524	Neomycin, kanamycin and gentamicin biosynthesis

Diseases

Associated diseases	References
Maturity onset diabetes of the young	KEGG:H00410
Permanent neonatal diabetes mellitus	KEGG:H00512
Familial hyperinsulinemic hypoglycemia	KEGG:H01267
Maturity onset diabetes of the young	KEGG:H00410
Permanent neonatal diabetes mellitus	KEGG:H00512
Familial hyperinsulinemic hypoglycemia	KEGG:H01267
Hypertension	PMID:9324112
Gestational diabetes	PMID:16752173
Gestational diabetes	PMID:8495817
Hyperinsulinism	PMID:9435328
Coronary artery disease	PMID:15173029
diabetes mellitus	PMID:11372010
type 2 diabetes mellitus	PMID:1570017
type 2 diabetes mellitus	PMID:8325445
hypoglycemia	PMID:9435328
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq