GCK glucokinase (hexokinase 4) [Homo sapiens (human)]
| Gene Symbol | GCK |
| Entrez Gene ID | 2645 |
| Full Name | glucokinase (hexokinase 4) |
| Synonyms | FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
7 7p15.3-p15.1 |
| Summary | Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. 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. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). [provided by RefSeq]. |
| Disorder | MIM: 138079 MODY, type II, 125851 (3); Diabetes mellitus, noninsulin-dependent, |
| mRNA | NM_000162, 167621407 |
| Protein | NP_000153, 4503951 |
| Product | glucokinase isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_033507, 15967158 |
| Protein | NP_277042, 15967159 |
| Product | glucokinase isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_033508, 15967160 |
| Protein | NP_277043, 15967161 |
| Product | glucokinase isoform 3 |
| RefSeq Status | REVIEWED |
| hsa04950 | Maturity onset diabetes of the young |
| hsa00520 | Amino sugar and nucleotide sugar metabolism |
| hsa01100 | Metabolic pathways |
| hsa00010 | Glycolysis / Gluconeogenesis |
| hsa04930 | Type II diabetes mellitus |
| hsa00524 | Butirosin and neomycin biosynthesis |
| hsa00052 | Galactose metabolism |
| hsa04910 | Insulin signaling pathway |
| hsa00500 | Starch and sucrose metabolism |
Pathway Interaction Database
| hnf3bpathway | FOXA2 and FOXA3 transcription factor networks |
| hif1_tfpathway | HIF-1-alpha transcription factor network |
WikiPathways
| WP382 | MAPK signaling pathway |
| WP534 | Glycolysis and Gluconeogenesis |
BIOCYC
| META_PWY-5661 | GDP-glucose biosynthesis |
Reactome
| REACT_474 | Metabolism of carbohydrates |
| REACT_9441 | Hexose transport |
| REACT_6804 | Regulation of Glucokinase by Glucokinase Regulatory Protein |
| REACT_13698 | Regulation of beta-cell development |
| REACT_19118 | SLC-mediated transmembrane transport |
| REACT_212 | Glucose transport |
| REACT_13819 | Regulation of gene expression in beta cells |
| REACT_15518 | Transmembrane transport of small molecules |
| Homo sapiens (human) | GCK | NP_000153.1 |
| Pan troglodytes (chimpanzee) | GCK | XP_001143661.1 |
| Bos taurus (cattle) | GCK | NP_001095772.1 |
| Mus musculus (house mouse) | Gck | NP_034422.2 |
| Rattus norvegicus (Norway rat) | Gck | NP_036697.1 |
| Danio rerio (zebrafish) | gck | NP_001038850.1 |
| Drosophila melanogaster (fruit fly) | Hex-C | NP_524674.1 |
| Arabidopsis thaliana (thale cress) | HXK3 | NP_175220.2 |
| ID | Name | Evidence |
| GO:0005975 | carbohydrate metabolic process | TAS |
| GO:0006110 | regulation of glycolysis | NAS |
| GO:0008645 | hexose transport | TAS |
| GO:0010827 | regulation of glucose transport | TAS |
| GO:0015758 | glucose transport | TAS |
| GO:0031018 | endocrine pancreas development | TAS |
| GO:0032024 | positive regulation of insulin secretion | IMP |
| GO:0032869 | cellular response to insulin stimulus | ISS |
| GO:0042593 | glucose homeostasis | IMP |
| GO:0044320 | cellular response to leptin stimulus | ISS |
| GO:0045721 | negative regulation of gluconeogenesis | IMP |
| GO:0045725 | positive regulation of glycogen biosynthetic process | IMP |
| GO:0050796 | regulation of insulin secretion | IMP |
| GO:0051156 | glucose 6-phosphate metabolic process | IDA |
| GO:0051156 | glucose 6-phosphate metabolic process | TAS |
| GO:0051594 | detection of glucose | IMP |
| GO:0055085 | transmembrane transport | TAS |
Component
| ID | Name | Evidence |
| GO:0005654 | nucleoplasm | EXP |
| GO:0005829 | cytosol | EXP |
| GO:0005829 | cytosol | TAS |
Function
| ID | Name | Evidence |
| GO:0000166 | nucleotide binding | IEA |
| GO:0004340 | glucokinase activity | IDA |
| GO:0004340 | glucokinase activity | TAS |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | IDA |
| GO:0005536 | glucose binding | IDA |
| GO:0016301 | kinase activity | IEA |
| GO:0016740 | transferase activity | IEA |
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