GK5 Gene - Glycerol Kinase 5
A comprehensive overview of GK5, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | GK5 |
|---|---|
| Full Name | Glycerol Kinase 5 (putative) |
| Gene Type | Protein coding |
| Chromosomal Location | 3q23 |
| NCBI Gene ID | 256356 ncbi.nlm.nih.gov/gene/256356 |
| Ensembl ID | ENSG00000182621 |
| UniProt ID | Q5TCS8 |
| OMIM ID | 617778 |
| HGNC ID | 24841 |
| Aliases | FLJ38973, MGC138499 |
Description
GK5 (Glycerol Kinase 5, putative) is a protein-coding gene located on chromosome 3q23. It encodes a putative glycerol kinase enzyme, though its specific biochemical function and physiological role remain incompletely characterized. The gene is expressed in various tissues and has been implicated in certain metabolic and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations in GK5 | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Kidney | 6.3 | Low |
| Liver | 4.1 | Low |
| Heart | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney |
| K562 | 8.5 | Leukemia |
| HeLa | 6.2 | Cervical cancer |
| HepG2 | 5.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function |
| c.682G>A (p.Gly228Arg) | Missense | Rare | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • glycerol kinase activity | • ATP binding |
| • glycerol metabolic process | • phosphorylation |
Pathways
• Glycerolipid metabolism
• Glycerophospholipid biosynthesis
Protein Summary
The GK5 protein is a putative glycerol kinase of 555 amino acids, belonging to the FGGY family of carbohydrate kinases. It contains a conserved ATP-binding domain and is predicted to catalyze the phosphorylation of glycerol to glycerol-3-phosphate. Its exact substrate specificity and physiological role require further investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GK5 Knockout HEK293 Cell Line | EDJ-KQ11829 | Human | 256356 | Details Get a Quote |
| GK5 Knockout HCT 116 Cell Line | EDJ-KQ38996 | Human | 256356 | 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 |
