GCK Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
GCK
Official Name
glucokinase [Source:HGNC Symbol;Acc:HGNC:4195]
Ensembl ID
ENSG00000106633
Bio databases IDs NCBI: 2645 Ensembl: ENSG00000106633
Aliases glucokinase, hexokinase 4
Synonyms FGQTL3, GCK (MODY2), GK, GLK, Gls006, glucokinase, GLUKA, HHF3, HK4, HKIV, Hlb62, HXKP, Lgk, LGLK, MODY2, Pgk, PNDM1, RNGK2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GCK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • catalytic domain
  • ADP binding
  • protein phosphatase binding
  • ATP binding
  • glucose binding
  • PLN02914
  • glucokinase
  • enzyme
  • fructokinase
  • protein binding
  • magnesium ion binding
  • kinase
  • PEST domain
  • mannokinase
  • hexokinase
  • C-terminal extension
  • ASKHA_ATPase-like

Pathways

Biological processes and signaling networks where the GCK gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • non-insulin-dependent diabetes mellitus
  • monogenic diabetes
  • maturity onset diabetes of the young type 2
  • maturity-onset diabetes of the young
  • developmental delay, epilepsy, and neonatal diabetes syndrome
  • metabolic syndrome X
  • hyperglycemia
  • diabetes mellitus
  • obesity
  • coronary artery disease
regulated by
regulates
role in cell
  • expression in
  • apoptosis
  • response by
  • glycolysis in
  • response in
  • gluconeogenesis in
  • function
  • nitrosylation in
  • excitation
  • elevation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • soluble fraction
  • perinuclear region
  • cellular membrane
  • cell cortex
  • Nucleus
  • Mitochondria
  • actin filaments
  • cytosol
  • nucleoplasm
  • secretory granules
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GCK gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • calcium ion import
  • glycolysis
  • regulation of potassium ion transport
  • negative regulation of gluconeogenesis
  • regulation of glycolysis
  • glucose metabolic process
  • carbohydrate phosphorylation
  • glucose catabolic process
  • positive regulation of glycogen biosynthetic process
  • cellular response to insulin stimulus
  • regulation of insulin secretion
  • glucose 6-phosphate metabolic process
  • response to glucose stimulus
  • cellular glucose homeostasis
  • cellular response to leptin stimulus
  • glucose homeostasis
  • NADP metabolic process
  • positive regulation of insulin secretion

Cellular Component

Where in the cell the gene product is active
  • mitochondrion
  • cytosol
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • glucose binding
  • ATP binding
  • protein binding
  • glucokinase activity
  • mannokinase activity
  • fructokinase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.