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Aliases for GCK Gene

Aliases for GCK Gene

  • Glucokinase (Hexokinase 4) 2 3
  • Hexokinase Type IV 3 4
  • Hexokinase-4 3 4
  • Hexokinase-D 3 4
  • HK IV 3 4
  • HHF3 3 6
  • HK4 3 4
  • Maturity Onset Diabetes Of The Young 2 2
  • ATP:D-Hexose 6-Phosphotransferase 3
  • Hexokinase D, Pancreatic Isozyme 3
  • Glucokinase 3
  • EC 2.7.1.2 4
  • EC 2.7.1 63
  • FGQTL3 3
  • MODY2 3
  • HKIV 3
  • HXKP 3
  • LGLK 3
  • GLK 3
  • GK 3

External Ids for GCK Gene

Previous HGNC Symbols for GCK Gene

  • MODY2

Previous GeneCards Identifiers for GCK Gene

  • GC07M043830
  • GC07M043890
  • GC07M043924
  • GC07M043957
  • GC07M044150
  • GC07M044183
  • GC07M044070

Summaries for GCK Gene

Entrez Gene Summary for GCK Gene

  • 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, Apr 2009]

GeneCards Summary for GCK Gene

GCK (Glucokinase (Hexokinase 4)) is a Protein Coding gene. Diseases associated with GCK include hyperinsulinemic hypoglycemia, familial, 3 and mody, type ii. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include magnesium ion binding and ADP binding. An important paralog of this gene is HK2.

UniProtKB/Swiss-Prot for GCK Gene

  • 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

Gene Wiki entry for GCK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCK Gene

Genomics for GCK Gene

Regulatory Elements for GCK Gene

Genomic Location for GCK Gene

Start:
44,144,271 bp from pter
End:
44,198,170 bp from pter
Size:
53,900 bases
Orientation:
Minus strand

Genomic View for GCK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GCK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCK Gene

Proteins for GCK Gene

  • Protein details for GCK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35557-HXK4_HUMAN
    Recommended name:
    Glucokinase
    Protein Accession:
    P35557
    Secondary Accessions:
    • A4D2J2
    • A4D2J3
    • Q05810

    Protein attributes for GCK Gene

    Size:
    465 amino acids
    Molecular mass:
    52191 Da
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • In vertebrates there are four major glucose-phosphorylating isoenzymes, designated hexokinase I, II, III and IV (glucokinase)

    Three dimensional structures from OCA and Proteopedia for GCK Gene

    Alternative splice isoforms for GCK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCK Gene

Proteomics data for GCK Gene at MOPED

Selected DME Specific Peptides for GCK Gene

Post-translational modifications for GCK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCK Gene

Domains for GCK Gene

Protein Domains for GCK Gene

Graphical View of Domain Structure for InterPro Entry

P35557

UniProtKB/Swiss-Prot:

HXK4_HUMAN :
  • P35557
Domain:
  • Contains 1 hexokinase domain.
Family:
  • Belongs to the hexokinase family.
genes like me logo Genes that share domains with GCK: view

No data available for Gene Families for GCK Gene

Function for GCK Gene

Molecular function for GCK Gene

GENATLAS Biochemistry: glucokinase,expressed in liver and islet beta cells of pancreas,glucose specific,primary regulator of glucose-controlled insulin secretion,catalyzing the first step of glycolysis,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity: ATP + D-glucose = ADP + D-glucose 6-phosphate
UniProtKB/Swiss-Prot EnzymeRegulation: The use of alternative promoters apparently enables the type IV hexokinase gene to be regulated by insulin in the liver and glucose in the beta cell. This may constitute an important feedback loop for maintaining glucose homeostasis. Subject to allosteric regulation. Low glucose and high fructose-6-phosphate triggers association with the inhibitor GKRP followed by sequestration in the nucleus.
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for GCK Gene

Gene Ontology (GO) - Molecular Function for GCK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004340 glucokinase activity IDA 12941786
GO:0004396 hexokinase activity --
GO:0005515 protein binding IPI 11522786
GO:0005524 ATP binding IDA 12941786
genes like me logo Genes that share ontologies with GCK: view
genes like me logo Genes that share phenotypes with GCK: view

Animal Models for GCK Gene

MGI Knock Outs for GCK:

miRNA for GCK Gene

miRTarBase miRNAs that target GCK

No data available for Transcription Factor Targeting and HOMER Transcription for GCK Gene

Localization for GCK Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCK Gene

Cytoplasm. Nucleus. Note=Under low glucose concentrations, GCK associates with GKRP and the inactive complex is recruited to the hepatocyte nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GCK Gene COMPARTMENTS Subcellular localization image for GCK gene
Compartment Confidence
cytosol 4
nucleus 4
extracellular 2
golgi apparatus 2
mitochondrion 2
peroxisome 2
plasma membrane 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GCK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GCK: view

Pathways for GCK Gene

genes like me logo Genes that share pathways with GCK: view

Gene Ontology (GO) - Biological Process for GCK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis IBA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0005978 glycogen biosynthetic process IEA --
GO:0006003 fructose 2,6-bisphosphate metabolic process IEA --
GO:0006006 glucose metabolic process TAS --
genes like me logo Genes that share ontologies with GCK: view

Compounds for GCK Gene

(18) HMDB Compounds for GCK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Alpha-D-Glucose
  • Hexopyranose
492-62-6
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
Not Available
Beta-D-Glucose
  • b-D-Glucopyranose
492-61-5

(85) Novoseek inferred chemical compound relationships for GCK Gene

Compound -log(P) Hits PubMed IDs
mannoheptulose 88 22
glucose 83.9 367
fructose 1-phosphate 83.3 15
glucose 6-phosphate 77 64
fructose-6-phosphate 70.7 11
genes like me logo Genes that share compounds with GCK: view

Transcripts for GCK Gene

Unigene Clusters for GCK Gene

Glucokinase (hexokinase 4):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GCK Gene

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:

Relevant External Links for GCK Gene

GeneLoc Exon Structure for
GCK
ECgene alternative splicing isoforms for
GCK

Expression for GCK Gene

mRNA expression in normal human tissues for GCK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GCK Gene

This gene is overexpressed in Pituitary (15.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GCK Gene

SOURCE GeneReport for Unigene cluster for GCK Gene Hs.1270

mRNA Expression by UniProt/SwissProt for GCK Gene

P35557-HXK4_HUMAN
Tissue specificity: Isoform 1 is expressed in pancreas. Isoform 2 and isoform 3 is expressed in liver
genes like me logo Genes that share expressions with GCK: view

Orthologs for GCK Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GCK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCK 35
  • 99.56 (n)
  • 99.56 (a)
GCK 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GCK 35
  • 91.25 (n)
  • 96.13 (a)
GCK 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GCK 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gck 35
  • 89.03 (n)
  • 95.91 (a)
Gck 16
Gck 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GCK 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCK 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gck 35
  • 87.38 (n)
  • 94.84 (a)
chicken
(Gallus gallus)
Aves GCK 35
  • 85.28 (n)
  • 90.29 (a)
GCK 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCK 36
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia gck-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gck 35
  • 72.63 (n)
  • 79.26 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11643 35
zebrafish
(Danio rerio)
Actinopterygii gck 35
  • 75.07 (n)
  • 83.71 (a)
gck 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hex-A 36
  • 38 (a)
ManyToMany
Hex-C 36
  • 43 (a)
ManyToMany
Hex-t2 36
  • 38 (a)
ManyToMany
Hex-t2 37
  • 41 (a)
Hex-t1 37
  • 31 (a)
Hex-A 37
  • 47 (a)
Hex-C 37
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea F14B4.2 36
  • 41 (a)
OneToMany
Y77E11A.1 37
  • 32 (a)
H25P06.1 37
  • 40 (a)
F14B4.2 37
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMI2 36
  • 27 (a)
ManyToMany
GLK1 36
  • 27 (a)
ManyToMany
HXK1 36
  • 31 (a)
ManyToMany
HXK2 36
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11095 36
  • 46 (a)
OneToMany
Species with no ortholog for GCK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCK Gene

ENSEMBL:
Gene Tree for GCK (if available)
TreeFam:
Gene Tree for GCK (if available)

Paralogs for GCK Gene

Paralogs for GCK Gene

genes like me logo Genes that share paralogs with GCK: view

Variants for GCK Gene

Sequence variations from dbSNP and Humsavar for GCK Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs730497 -- 44,184,122(-) GCACA(C/T)GGGGG intron-variant
rs741038 -- 44,183,880(-) TACTT(C/T)GAAGT intron-variant
rs741039 -- 44,164,135(+) ataca(C/T)acttt intron-variant
rs758985 -- 44,182,872(-) TGAGG(C/T)GCCAA intron-variant
rs758986 -- 44,182,626(-) gactt(C/G)cctag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GCK Gene

Variant ID Type Subtype PubMed ID
nsv428165 CNV Gain 18775914
nsv8082 CNV Gain 18304495
nsv887996 CNV Loss 21882294
nsv830983 CNV Loss 17160897
nsv509195 CNV Insertion 20534489

Relevant External Links for GCK Gene

HapMap Linkage Disequilibrium report
GCK
Human Gene Mutation Database (HGMD)
GCK
Locus Specific Mutation Databases (LSDB)
GCK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCK Gene

Disorders for GCK Gene

(4) OMIM Diseases for GCK Gene (138079)

UniProtKB/Swiss-Prot

HXK4_HUMAN
  • 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:0000269 PubMed:10588527, ECO:0000269 PubMed:10694920, ECO:0000269 PubMed:11106831, ECO:0000269 PubMed:11372010, ECO:0000269 PubMed:1303265, ECO:0000269 PubMed:1464666, ECO:0000269 PubMed:1502186, ECO:0000269 PubMed:8168652, ECO:0000269 PubMed:8325892, ECO:0000269 PubMed:8495817, ECO:0000269 PubMed:9049484, ECO:0000269 PubMed: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:0000269 PubMed:9435328}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(28) Novoseek inferred disease relationships for GCK Gene

Disease -log(P) Hits PubMed IDs
niddm 87 130
neonatal diabetes mellitus 79.2 8
hyperglycemia 77.9 75
hyperinsulinism 73.1 18
hypoglycemia 65.8 40

Relevant External Links for GCK

GeneTests
GCK
GeneReviews
GCK
Genetic Association Database (GAD)
GCK
Human Genome Epidemiology (HuGE) Navigator
GCK
genes like me logo Genes that share disorders with GCK: view

Publications for GCK Gene

  1. Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non- insulin-dependent (type 2) diabetes mellitus. (PMID: 1502186) Stoffel M. … Bell G.I. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3 4 23 48
  2. Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus. (PMID: 11106831) Nam J.H. … Huh K.B. (Diabetes Res. Clin. Pract. 2000) 3 4 23 48
  3. Hepatic glucokinase promoter polymorphism is associated with hepatic insulin resistance in Asian Indians. (PMID: 11112984) Chiu K.C. … Saad M.F. (BMC Genet. 2000) 3 23 48
  4. Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). (PMID: 10694920) Guazzini B. … Barbetti F. (Hum. Mutat. 1998) 3 4 23
  5. Familial hyperinsulinism caused by an activating glucokinase mutation. (PMID: 9435328) Glaser B. … Herold K.C. (N. Engl. J. Med. 1998) 3 4 23

Products for GCK Gene

  • Addgene plasmids for GCK

Sources for GCK Gene

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