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Aliases for GK Gene

Aliases for GK Gene

  • Glycerol Kinase 2 3
  • ATP:Glycerol 3-Phosphotransferase 3 4
  • Glycerokinase 3 4
  • EC 2.7.1.30 4 64
  • GK1 3
  • GKD 3

External Ids for GK Gene

Summaries for GK Gene

Entrez Gene Summary for GK Gene

  • The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for GK Gene

GK (Glycerol Kinase) is a Protein Coding gene. Diseases associated with GK include glycerol kinase deficiency and glycerol kinase deficiency, infantile form. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include glycerol kinase activity. An important paralog of this gene is GK2.

UniProtKB/Swiss-Prot for GK Gene

  • Key enzyme in the regulation of glycerol uptake and metabolism

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

Genomics for GK Gene

Genomic Location for GK Gene

Start:
30,653,359 bp from pter
End:
30,731,462 bp from pter
Size:
78,104 bases
Orientation:
Plus strand

Genomic View for GK Gene

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

RefSeq DNA sequence for GK Gene

Regulatory Elements for GK Gene

Proteins for GK Gene

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

    Protein Symbol:
    P32189-GLPK_HUMAN
    Recommended name:
    Glycerol kinase
    Protein Accession:
    P32189
    Secondary Accessions:
    • A6NJP5
    • B2R833
    • Q6IQ27
    • Q8IVR5
    • Q9UMP0
    • Q9UMP1

    Protein attributes for GK Gene

    Size:
    559 amino acids
    Molecular mass:
    61245 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA48346.1; Type=Frameshift; Positions=201, 210, 459; Evidence={ECO:0000305};

    Alternative splice isoforms for GK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GK Gene

Proteomics data for GK Gene at MOPED

Post-translational modifications for GK Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys5, Lys6, Lys31, Lys86, and Lys340

Domains for GK Gene

Gene Families for GK Gene

HGNC:
  • GK :Glycerol kinases

UniProtKB/Swiss-Prot:

GLPK_HUMAN
Family:
  • Belongs to the FGGY kinase family.:
    • P32189
genes like me logo Genes that share domains with GK: view

Function for GK Gene

Molecular function for GK Gene

GENATLAS Biochemistry: glycerol kinase,cytosolic
UniProtKB/Swiss-Prot CatalyticActivity: ATP + glycerol = ADP + sn-glycerol 3-phosphate
UniProtKB/Swiss-Prot Function: Key enzyme in the regulation of glycerol uptake and metabolism

Enzyme Numbers (IUBMB) for GK Gene

Gene Ontology (GO) - Molecular Function for GK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004370 glycerol kinase activity NAS 8401584
GO:0005515 protein binding IPI 21988832
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity --
GO:0016773 phosphotransferase activity, alcohol group as acceptor --
genes like me logo Genes that share ontologies with GK: view
genes like me logo Genes that share phenotypes with GK: view

Animal Models for GK Gene

MGI Knock Outs for GK:

miRNA for GK Gene

miRTarBase miRNAs that target GK

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

Localization for GK Gene

Subcellular locations from UniProtKB/Swiss-Prot for GK Gene

Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Note=In sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such as liver found in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GK Gene COMPARTMENTS Subcellular localization image for GK gene
Compartment Confidence
mitochondrion 5
cytosol 4
peroxisome 2
endoplasmic reticulum 1
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GK: view

Pathways for GK Gene

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

UniProtKB/Swiss-Prot P32189-GLPK_HUMAN

  • Pathway: Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1

Gene Ontology (GO) - Biological Process for GK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006071 glycerol metabolic process IMP 8499898
GO:0006072 glycerol-3-phosphate metabolic process --
GO:0006641 triglyceride metabolic process IMP 8651297
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with GK: view

Compounds for GK Gene

(5) HMDB Compounds for GK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Glycerol
  • 1,2,3-Trihydroxypropane
56-81-5
Glycerol 3-phosphate
  • 1-(dihydrogen phosphate) Glycerol
57-03-4
Norepinephrine
  • (-)-(R)-Norepinephrine
51-41-2

(20) Novoseek inferred chemical compound relationships for GK Gene

Compound -log(P) Hits PubMed IDs
glycerol 92.1 179
glycerol 3-phosphate 82.6 17
dihydroxyacetone 57.7 1
phosphoenolpyruvate 45.8 1
rosiglitazone 40.9 2
genes like me logo Genes that share compounds with GK: view

Transcripts for GK Gene

Unigene Clusters for GK Gene

Glycerol kinase:
Representative Sequences:

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

No ASD Table

Relevant External Links for GK Gene

GeneLoc Exon Structure for
GK
ECgene alternative splicing isoforms for
GK

Expression for GK Gene

mRNA expression in normal human tissues for GK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (13.9) and Liver (9.0).

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

SOURCE GeneReport for Unigene cluster for GK Gene Hs.1466

mRNA Expression by UniProt/SwissProt for GK Gene

P32189-GLPK_HUMAN
Tissue specificity: Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed specifically in testis and fetal liver, but not in the adult liver
genes like me logo Genes that share expressions with GK: view

Orthologs for GK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GK 36
  • 99.76 (n)
  • 100 (a)
GK 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 94 (a)
OneToMany
GK 36
  • 92.96 (n)
  • 96.42 (a)
GK 37
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GK 36
  • 93.8 (n)
  • 96.78 (a)
GK 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gyk 16
Gyk 37
  • 97 (a)
OneToOne
Gykl1 36
  • 82.7 (n)
  • 82.33 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 90 (a)
ManyToMany
-- 37
  • 88 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gykl1 36
  • 82.57 (n)
  • 83.24 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 84 (a)
OneToMany
GK 36
  • 79.17 (n)
  • 84.92 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gk 36
  • 76.51 (n)
  • 85.69 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2723 36
zebrafish
(Danio rerio)
Actinopterygii Dr.15006 36
GK2 37
  • 78 (a)
OneToMany
zgc:172295 36
  • 72.35 (n)
  • 80.27 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001563 36
  • 51.46 (n)
  • 52.7 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8298 37
  • 37 (a)
ManyToMany
Gk 36
  • 51.24 (n)
  • 48.7 (a)
Gk 37
  • 45 (a)
ManyToMany
Gyk 37
  • 52 (a)
ManyToMany
CG1271 38
  • 25 (a)
CG8298 38
  • 38 (a)
Gyk 38
  • 52 (a)
CG7995 38
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea R11F4.1 36
  • 54.14 (n)
  • 51.11 (a)
R11F4.1 37
  • 50 (a)
OneToMany
C55B6.1 38
  • 24 (a)
R11F4.1 38
  • 49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL069C 36
  • 50.19 (n)
  • 50.34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUT1 36
  • 51.43 (n)
  • 48.72 (a)
GUT1 37
  • 33 (a)
OneToMany
GUT1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00595g 36
  • 53.35 (n)
  • 51.57 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9384 36
bread mold
(Neurospora crassa)
Ascomycetes NCU06005 36
  • 52.02 (n)
  • 51.49 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11967 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4742 37
  • 63 (a)
OneToMany
Species with no ortholog for GK:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)

Evolution for GK Gene

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

Paralogs for GK Gene

Paralogs for GK Gene

Selected SIMAP similar genes for GK Gene using alignment to 10 proteins:

Pseudogenes.org Pseudogenes for GK Gene

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

Variants for GK Gene

Sequence variations from dbSNP and Humsavar for GK Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs619 -- 30,695,846(+) TTGAA(A/G)CATGA intron-variant
rs620 -- 30,695,940(+) TGTTC(C/T)GTTCT intron-variant
rs728149 -- 30,655,752(+) TCACT(A/G)CAGGT intron-variant
rs931240 -- 30,716,832(+) TATTT(C/G)TTGAA intron-variant
rs967785 -- 30,656,143(+) GAGAG(A/G)TTGCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2740053 CNV Deletion 23290073

Relevant External Links for GK Gene

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

Disorders for GK Gene

(1) OMIM Diseases for GK Gene (300474)

UniProtKB/Swiss-Prot

GLPK_HUMAN
  • Glycerol kinase deficiency (GKD) [MIM:307030]: A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine. {ECO:0000269 PubMed:10736265, ECO:0000269 PubMed:8651297, ECO:0000269 PubMed:9719371}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for GK Gene

(19) Novoseek inferred disease relationships for GK Gene

Disease -log(P) Hits PubMed IDs
glycerol kinase deficiency 99.2 95
adrenal hypoplasia, congenital 94.1 13
addisons disease 89.3 23
muscular dystrophy duchenne 83.6 35
albinism ocular 60.3 1

Genatlas disease for GK Gene

hyperglycerolemia,pseudohypertriglyceridemia,sometimes presenting with hypoglycemia,ketoacidosis and recurrent convulsions in infancy

Relevant External Links for GK

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

Publications for GK Gene

  1. Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation. (PMID: 10851254) Sargent C.A. … Affara N.A. (J. Med. Genet. 2000) 3 4 23
  2. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. (PMID: 8401584) Guo W. … McCabe E.R.B. (Nat. Genet. 1993) 3 4 23
  3. Isolation of the human Xp21 glycerol kinase gene by positional cloning. (PMID: 8499898) Walker A.P. … Monaco A.P. (Hum. Mol. Genet. 1993) 3 4 23
  4. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. (PMID: 9719371) Sjarif D.R. … Poll-The B.T. (J. Med. Genet. 1998) 3 4 23
  5. Mutations and phenotype in isolated glycerol kinase deficiency. (PMID: 8651297) Walker A.P. … Monaco A.P. (Am. J. Hum. Genet. 1996) 3 4 23

Products for GK Gene

  • Addgene plasmids for GK

Sources for GK Gene

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