AGK (Acylglycerol Kinase)
Mitochondrial membrane protein with kinase activity; mutations cause Sengers syndrome and are linked to cataract and cardiomyopathy.
Gene Information Card
| Symbol | AGK |
|---|---|
| Full Name | Acylglycerol Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 55750 ncbi.nlm.nih.gov/gene/55750 |
| Ensembl ID | ENSG00000106546 |
| UniProt ID | Q53H12 |
| OMIM ID | 610345 |
| HGNC ID | 32569 |
| Aliases | MUL, FLJ10842, HsT18881 |
Description
The AGK gene encodes acylglycerol kinase, a mitochondrial membrane protein that catalyzes the phosphorylation of monoacylglycerol and diacylglycerol to form lysophosphatidic acid and phosphatidic acid, respectively. This enzyme is essential for mitochondrial lipid metabolism and import of mitochondrial carrier proteins. Mutations in AGK cause Sengers syndrome, characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis. AGK is also implicated in certain cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sengers syndrome | Loss-of-function mutations in AGK impair mitochondrial acylglycerol kinase activity, leading to defective mitochondrial carrier protein import and energy metabolism. | ClinVar, OMIM |
| Cataract (congenital) | AGK mutations disrupt lens mitochondrial function, contributing to cataract formation. | ClinVar, OMIM |
| Cardiomyopathy (hypertrophic) | Defective mitochondrial lipid metabolism due to AGK deficiency causes cardiac hypertrophy. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 7.3 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK293 | 12.8 | Embryonic kidney cell line |
| HepG2 | 9.4 | Hepatocellular carcinoma cell line |
| K562 | 6.7 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.113A>G (p.Tyr38Cys) | Missense | Rare | Likely loss of function; associated with Sengers syndrome |
| c.334C>T (p.Arg112*) | Nonsense | Rare | Truncating; loss of function; Sengers syndrome |
| c.676_677delAG (p.Ser226fs) | Frameshift | Rare | Loss of function; Sengers syndrome |
Mutation functional classification
Loss of Function (LOF)
Most AGK mutations are loss-of-function, leading to reduced acylglycerol kinase activity and mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported in AGK.
Dominant Negative (DN)
No dominant-negative mutations reported in AGK.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005739 - mitochondrion | • GO:0005524 - ATP binding |
| • GO:0001727 - lipid kinase activity | • GO:0046834 - acylglycerol kinase activity |
| • GO:0006644 - phospholipid metabolic process | • GO:0016020 - membrane |
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
• Mitochondrial protein import (Reactome: R-HSA-1268020)
Protein Summary
Acylglycerol kinase (AGK) is a 422-amino acid mitochondrial membrane protein with a molecular weight of approximately 47 kDa. It contains a conserved DAGK domain and catalyzes the ATP-dependent phosphorylation of mono- and diacylglycerol. AGK is essential for the assembly of the TIM22 complex, which imports carrier proteins into the mitochondrial inner membrane. Defects in AGK lead to Sengers syndrome and are associated with cataract and cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGK Knockout HEK293 Cell Line | EDJ-KQ12308 | Human | 55750 | Details Get a Quote |
| NAGK Knockout HEK293 Cell Line | EDJ-KQ14365 | Human | 55577 | Details Get a Quote |
| AGK Knockout A-549 Cell Line | EDJ-KQ41139 | Human | 55750 | Details Get a Quote |
| AGK Knockout HCT 116 Cell Line | EDJ-KQ41140 | Human | 55750 | Details Get a Quote |
| AGK Knockout HeLa Cell Line | EDC90512 | Human | 55750 | Details Get a Quote |
| NAGK Knockout HCT 116 Cell Line | EDJ-KQ44501 | Human | 55577 | Details Get a Quote |
| NAGK Knockout HeLa Cell Line | EDJ-KQ44502 | Human | 55577 | Details Get a Quote |
| NAGK Knockout A-549 Cell Line | EDJ-KQ43263 | Human | 55577 | Details Get a Quote |
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