GK Gene (Glycerol Kinase)
Glycerol Kinase: Function, Mutations, and Associated Diseases
Gene Information Card
| Symbol | GK |
|---|---|
| Full Name | Glycerol Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | Xp21.2 |
| NCBI Gene ID | 2710 ncbi.nlm.nih.gov/gene/2710 |
| Ensembl ID | ENSG00000125144 |
| UniProt ID | P32189 |
| OMIM ID | 300474 |
| HGNC ID | 4289 |
| Aliases | GKD, GK1, Gk |
Description
The GK gene encodes glycerol kinase, an enzyme that catalyzes the phosphorylation of glycerol to glycerol-3-phosphate, a key step in glycerol metabolism and triglyceride synthesis. Deficiency of this enzyme leads to glycerol kinase deficiency, characterized by hyperglycerolemia and glyceroluria. The gene is located on the X chromosome and is associated with complex phenotypes when deleted as part of a contiguous gene syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycerol kinase deficiency (GKD) | Loss-of-function mutations in GK impair glycerol phosphorylation, leading to accumulation of glycerol in blood and urine. | ClinVar, OMIM |
| Pseudohypertriglyceridemia | Deficient glycerol kinase activity causes falsely elevated triglyceride measurements due to glycerol accumulation. | OMIM |
| Complex glycerol kinase deficiency (CGKD) | Deletion of GK along with DMD and NR0B1 genes on Xp21 results in Duchenne muscular dystrophy, adrenal hypoplasia, and GKD. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Adipose tissue | 6.7 | Medium |
| Testis | 4.2 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte cell line; high expression |
| HEK293 | 5.5 | Embryonic kidney; moderate expression |
| A549 | 3.0 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | Rare | Loss of function; reduced enzyme activity |
| c.451C>T (p.Arg151Trp) | Missense | Rare | Loss of function; associated with GKD |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; no protein synthesis |
| Whole gene deletion | Deletion | Rare | Loss of function; part of CGKD |
Mutation functional classification
Loss of Function (LOF)
Most GK mutations are loss-of-function, leading to glycerol kinase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not applicable; X-linked recessive inheritance.
View complete mutation data：
Gene Ontology (GO)
| • glycerol kinase activity (GO:0004370) | • glycerol-3-phosphate metabolic process (GO:0006072) |
| • glycerol catabolic process (GO:0019563) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Glycerolipid metabolism (Reactome: R-HSA-8978868)
• Glycerol phosphate shuttle (KEGG: hsa00561)
• Triglyceride biosynthesis (Reactome: R-HSA-75109)
Protein Summary
Glycerol kinase (UniProt P32189) is a 559-amino acid enzyme that catalyzes the ATP-dependent phosphorylation of glycerol to sn-glycerol-3-phosphate. It is a key regulator of glycerol utilization and lipid metabolism. The protein is predominantly cytosolic and highly expressed in liver and kidney. Defects in this enzyme cause glycerol kinase deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GKN2 Knockout HEK293 Cell Line | EDJ-KQ4513 | Human | 200504 | Details Get a Quote |
| GK2 Knockout HEK293 Cell Line | EDJ-KQ4712 | Human | 2712 | Details Get a Quote |
| GKAP1 Knockout HEK293 Cell Line | EDJ-KQ9520 | Human | 80318 | Details Get a Quote |
| GK5 Knockout HEK293 Cell Line | EDJ-KQ11829 | Human | 256356 | Details Get a Quote |
| GK3 Knockout HEK293 Cell Line | EDJ-KQ13605 | Human | 2713 | Details Get a Quote |
| GKN1 Knockout HEK293 Cell Line | EDJ-KQ13606 | Human | 56287 | Details Get a Quote |
| GKN2 Knockout A-549 Cell Line | EDJ-KQ27124 | Human | 200504 | Details Get a Quote |
| GK5 Knockout HCT 116 Cell Line | EDJ-KQ38996 | Human | 256356 | Details Get a Quote |
| GKAP1 Knockout A-549 Cell Line | EDJ-KQ36280 | Human | 80318 | Details Get a Quote |
| GKAP1 Knockout HCT 116 Cell Line | EDJ-KQ36281 | Human | 80318 | Details Get a Quote |
| GKAP1 Knockout HeLa Cell Line | EDJ-KQ36282 | Human | 80318 | Details Get a Quote |
| GK5 Knockout A-549 Cell Line | EDJ-KQ40247 | Human | 256356 | Details Get a Quote |
| GK5 Knockout HeLa Cell Line | EDJ-KQ40249 | Human | 256356 | Details Get a Quote |
| GK3 Knockout A-549 Cell Line | EDJ-KQ43268 | Human | 2713 | Details Get a Quote |
| GK3 Knockout HCT 116 Cell Line | EDJ-KQ43269 | Human | 2713 | Details Get a Quote |
