GK3 Gene - Glycerol Kinase 3
Comprehensive genomic and functional analysis of GK3
Gene Information Card
| Symbol | GK3 |
|---|---|
| Full Name | Glycerol Kinase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q32.3 |
| NCBI Gene ID | 27130 ncbi.nlm.nih.gov/gene/27130 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q14409 |
| OMIM ID | 300291 |
| HGNC ID | 4290 |
| Aliases | GK, GKD, GKLP1 |
Description
GK3 (glycerol kinase 3) encodes an enzyme that catalyzes the phosphorylation of glycerol to glycerol-3-phosphate, a key step in glycerol metabolism and triglyceride synthesis. The gene is located on chromosome 4q32.3 and is expressed in multiple tissues, with highest levels in liver and kidney. Mutations in GK3 are associated with glycerol kinase deficiency and related metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycerol Kinase Deficiency | Loss-of-function mutations impair glycerol phosphorylation, leading to accumulation of glycerol and metabolic acidosis. | ClinVar, OMIM |
| Hyperglycerolemia | Deficient GK3 activity results in elevated serum glycerol levels. | OMIM |
| Adrenal Hypoplasia Congenita | Contiguous gene deletion syndrome involving GK3 and neighboring genes (e.g., NR0B1) on Xp21. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Adipose Tissue | 6.1 | Medium |
| Skeletal Muscle | 3.2 | Low |
| Brain | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK293 | 7.4 | Embryonic kidney cells |
| A549 | 4.2 | Lung carcinoma cells |
| MCF7 | 2.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.571C>T (p.Arg191*) | Nonsense | <0.01% | Loss of function; associated with glycerol kinase deficiency |
| c.1042G>A (p.Gly348Arg) | Missense | <0.01% | Reduced enzymatic activity |
| c.1234delC | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing glycerol kinase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported in GK3.
Dominant Negative (DN)
No dominant-negative mutations reported in GK3.
View complete mutation data：
Gene Ontology (GO)
| • glycerol kinase activity (GO:0004370) | • ATP binding (GO:0005524) |
| • glycerol-3-phosphate metabolic process (GO:0006072) | • phosphorylation (GO:0016310) |
Pathways
• Glycerolipid metabolism (Reactome R-HSA-8978868)
• Glycerol phosphate shuttle (KEGG hsa00561)
Protein Summary
GK3 encodes a 559-amino acid protein (UniProt Q14409) that functions as a glycerol kinase, converting glycerol to glycerol-3-phosphate. The enzyme is critical for glycerol utilization and lipid biosynthesis. It is localized in the cytoplasm and expressed predominantly in liver and kidney. Structural analysis reveals a conserved ATP-binding domain and catalytic residues essential for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GK3 Knockout HEK293 Cell Line | EDJ-KQ13605 | Human | 2713 | 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 |
| GK3 Knockout HeLa Cell Line | EDJ-KQ43270 | Human | 2713 | Details Get a Quote |
