InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GCK

Summary

InnateDB Protein

IDBP-238814.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GCK

Protein Name

glucokinase (hexokinase 4)

Synonyms

FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2;

Species

Homo sapiens

Ensembl Protein

ENSP00000379142

InnateDB Gene

IDBG-14358 (GCK)

Protein Structure

UniProt Annotation

Function

Catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. Glucokinase has a high Km for glucose, and so it is effective only when glucose is abundant. The role of GCK is to provide G6P for the synthesis of glycogen. Pancreatic glucokinase plays an important role in modulating insulin secretion. Hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:10456334}. Nucleus {ECO:0000269PubMed:10456334}. Note=Under low glucose concentrations, GCK associates with GKRP and the inactive complex is recruited to the hepatocyte nucleus.

Disease Associations

Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269PubMed:10588527, ECO:0000269PubMed:10694920, ECO:0000269PubMed:11106831, ECO:0000269PubMed:11372010, ECO:0000269PubMed:1303265, ECO:0000269PubMed:1464666, ECO:0000269PubMed:1502186, ECO:0000269PubMed:8168652, ECO:0000269PubMed:8325892, ECO:0000269PubMed:8495817, ECO:0000269PubMed:9049484, ECO:0000269PubMed:9662401}. Note=The disease is caused by mutations affecting the gene represented in this entry.Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO:0000269PubMed:9435328}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 1 is expressed in pancreas. Isoform 2 and isoform 3 is expressed in liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004340	glucokinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0005536	glucose binding
GO:0016773	phosphotransferase activity, alcohol group as acceptor

Biological Process

GO:0001678	cellular glucose homeostasis
GO:0005975	carbohydrate metabolic process
GO:0006110	regulation of glycolytic process
GO:0008645	hexose transport
GO:0010827	regulation of glucose transport
GO:0015758	glucose transport
GO:0031018	endocrine pancreas development
GO:0032024	positive regulation of insulin secretion
GO:0032869	cellular response to insulin stimulus
GO:0042593	glucose homeostasis
GO:0044281	small molecule metabolic process
GO:0044320	cellular response to leptin stimulus
GO:0045721	negative regulation of gluconeogenesis
GO:0045725	positive regulation of glycogen biosynthetic process
GO:0050796	regulation of insulin secretion
GO:0051594	detection of glucose
GO:0055085	transmembrane transport