Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GK Gene

Aliases for GK Gene

  • Glycerol Kinase 2 3 5
  • ATP:Glycerol 3-Phosphotransferase 3 4
  • Glycerokinase 3 4
  • EC 2.7.1.30 4 61
  • GK1 3
  • GKD 3

External Ids for GK Gene

Previous GeneCards Identifiers for GK Gene

  • GC0XP029171
  • GC0XP029355
  • GC0XP029873
  • GC0XP030032
  • GC0XP030431
  • GC0XP030581
  • GC0XP028409

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, Adult Form. Among its related pathways are triacylglycerol biosynthesis and Glycerophospholipid Biosynthetic Pathway. GO annotations related to this gene include kinase activity and glycerol kinase activity. An important paralog of this gene is GK3P.

UniProtKB/Swiss-Prot for GK Gene

  • Key enzyme in the regulation of glycerol uptake and metabolism.

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

Genomics for GK Gene

Regulatory Elements for GK Gene

Enhancers for GK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG030651 1.7 FANTOM5 ENCODE dbSUPER 39.9 +4.4 4383 12.4 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS KLF13 GK CXorf21 GK-AS1 GC0XM030662
GH0XG030625 1.5 FANTOM5 ENCODE dbSUPER 33.4 -25.8 -25815 3.2 ELF3 TBP FOXA2 ATF1 MLX ARID4B DMAP1 RARA GATA4 CREM GK CXorf21 FTLP2 GC0XP030617
GH0XG030592 1.4 FANTOM5 Ensembl ENCODE dbSUPER 28 -60.3 -60259 1.4 CTCF TRIM22 NBN MAFG GK CXorf21 PIR46437
GH0XG030620 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.1 -32.2 -32159 1.2 ELF3 ATF1 JUN BACH1 ZNF175 FOSL1 FOS PRDM10 MAFK ATF2 GK CXorf21 GC0XP030617 FTLP2
GH0XG030572 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22.6 -77.7 -77723 6.5 HNRNPUL1 TBP PKNOX1 TBL1XR1 BMI1 RAD21 RFX5 CBX5 ZNF207 RELB GK CXorf21 GC0XM030519
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GK on UCSC Golden Path with GeneCards custom track

Promoters for GK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000245518 541 3001 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 KLF13 PAF1 SP3

Genomic Location for GK Gene

Chromosome:
X
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

Genes around GK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for GK Gene

P32189:
  • TGGVNGG
  • AMNRDCGIPL
  • KNTYGTG
  • YFVPAFS
  • LMQLQAD
  • VPAFSGL
  • HGLLTTVA
  • TGEPLYNA
  • GTIDSWL
  • LFNIHSL
  • TDVTNASRT
  • YALEGSVAIAGA
  • MERFEPQI
  • EGWVEQDPKEIL
  • YYALEGS
  • CGLTQFTNKCHIAFAALEAVCFQTREIL
  • NASRTML
  • ETTALGA
  • NIDISNIKA
  • STRFLVF
  • GALEGVPISGCLGDQ
  • SVYECIEKTCEKLGQLNI
  • TYGTGCF
  • NQRETTV
  • TGLPLSTYF
  • AVMKSMGWVT
  • PLYNAVVWLDLRTQSTVE

Post-translational modifications for GK Gene

  • Ubiquitination at isoforms=2, 3, 431 and isoforms=2, 3, 486
  • Modification sites at PhosphoSitePlus

Domains & Families for GK Gene

Gene Families for GK Gene

Suggested Antigen Peptide Sequences for GK Gene

Graphical View of Domain Structure for InterPro Entry

P32189

UniProtKB/Swiss-Prot:

GLPK_HUMAN :
  • Belongs to the FGGY kinase family.
Family:
  • Belongs to the FGGY kinase family.
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 TAS --
GO:0005515 protein binding IPI 21988832
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with GK: view
genes like me logo Genes that share phenotypes with GK: view

Human Phenotype Ontology for GK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GK Gene

miRTarBase miRNAs that target GK

No data available for Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GK gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 5
peroxisome 3
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA,IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GK: view

Pathways & Interactions 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.

SIGNOR curated interactions for GK Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GK Gene

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

Drugs & Compounds for GK Gene

(10) Drugs for GK Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Experimental Pharma 238
Norepinephrine Approved Pharma 699
Adenosine triphosphate Approved Nutra 0

(12) Additional Compounds for GK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
glycerol 3-phosphate
  • 1-(Dihydrogen phosphate) Glycerol
  • 1-Glycerophosphate
  • 1-Glycerophosphorate
  • 1-Glycerophosphoric acid
  • 3-Glycerophosphate
57-03-4
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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x13.9) and Liver (x9.0).

Protein differential expression in normal tissues from HIPED for GK Gene

This gene is overexpressed in Liver (20.6), Lung (7.6), and Kidney (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GK Gene



NURSA nuclear receptor signaling pathways regulating expression of GK Gene:

GK

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.

Evidence on tissue expression from TISSUES for GK Gene

  • Liver(4.5)
  • Blood(4.3)
  • Nervous system(4.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • duodenum
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GK: view

Primer Products

No data available for Protein tissue co-expression partners for GK Gene

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 34 35
  • 99.76 (n)
mouse
(Mus musculus)
Mammalia Gyk 35
  • 97 (a)
OneToOne
Gykl1 16 34
  • 82.7 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 94 (a)
OneToMany
GK 34 35
  • 92.96 (n)
dog
(Canis familiaris)
Mammalia GK 34 35
  • 93.8 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 90 (a)
ManyToMany
-- 35
  • 88 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gykl1 34
  • 82.57 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 84 (a)
OneToMany
GK 34
  • 79.17 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gk 34
  • 76.51 (n)
zebrafish
(Danio rerio)
Actinopterygii GK2 35
  • 78 (a)
OneToMany
zgc:172295 34
  • 72.35 (n)
Dr.15006 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2723 34
fruit fly
(Drosophila melanogaster)
Insecta Gyk 35 36
  • 52 (a)
ManyToMany
Gk 34 35
  • 51.24 (n)
CG7995 36
  • 49 (a)
CG8298 36 35
  • 38 (a)
CG1271 36
  • 25 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001563 34
  • 51.46 (n)
worm
(Caenorhabditis elegans)
Secernentea R11F4.1 36 34 35
  • 54.14 (n)
C55B6.1 36
  • 24 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00595g 34
  • 53.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUT1 34 35 37
  • 51.43 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL069C 34
  • 50.19 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.9384 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4742 35
  • 63 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06005 34
  • 52.02 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11967 34
Species where no ortholog for GK was found in the sources mined by GeneCards:
  • 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

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
rs132630328 Pathogenic, Glycerol kinase deficiency (GKD) [MIM:307030] 30,720,721(+) AGCAG(A/T)CATTC reference, missense
rs132630330 Pathogenic, Glycerol kinase deficiency (GKD) [MIM:307030] 30,724,124(+) CTACA(C/T)GGAAG reference, missense
rs132630331 Pathogenic, Glycerol kinase deficiency (GKD) [MIM:307030] 30,707,584(+) TATGT(A/G)ATACA reference, missense
rs132630329 Pathogenic 30,720,639(+) TGAAT(C/T)GAGAC reference, stop-gained
rs587776740 Pathogenic 30,696,041(+) GCCTA(C/G)AGTTT splice-acceptor-variant

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

Variant ID Type Subtype PubMed ID
esv2740053 CNV deletion 23290073
esv3576804 CNV gain 25503493

Variation tolerance for GK Gene

Residual Variation Intolerance Score: 11.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GK Gene

Human Gene Mutation Database (HGMD)
GK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GK

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

Disorders for GK Gene

MalaCards: The human disease database

(14) MalaCards diseases for GK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GK in MalaCards View complete list of genes associated with diseases

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait. (PMID: 10736265) Gaudet D. … Rioux J.D. (Am. J. Hum. Genet. 2000) 3 4 22 64
  3. 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 22 64
  4. Mutations and phenotype in isolated glycerol kinase deficiency. (PMID: 8651297) Walker A.P. … Monaco A.P. (Am. J. Hum. Genet. 1996) 3 4 22 64
  5. The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons. (PMID: 7987308) Sargent C.A. … Affara N.A. (Hum. Mol. Genet. 1994) 2 3 4 64

Products for GK Gene

  • Addgene plasmids for GK

Sources for GK Gene

Content
Loading form....