AFG1L: AFG1 Like ATPase
Mitochondrial AAA ATPase involved in respiratory chain complex assembly and quality control
Gene Information Card
| Symbol | AFG1L |
|---|---|
| Full Name | AFG1 Like ATPase |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.3 |
| NCBI Gene ID | 123720 ncbi.nlm.nih.gov/gene/123720 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8WUV1 |
| OMIM ID | 618511 |
| HGNC ID | 25968 |
| Aliases | AFG1, AFG1L1, bA68C15.1 |
Description
AFG1L encodes a mitochondrial AAA ATPase that localizes to the mitochondrial inner membrane. It is involved in the assembly and maintenance of respiratory chain complexes, particularly complex IV (cytochrome c oxidase) and complex I. The protein functions in quality control of mitochondrial proteins, potentially mediating the degradation or remodeling of misfolded or unassembled subunits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Loss of AFG1L impairs assembly of cytochrome c oxidase, leading to reduced respiratory chain activity | ClinVar, OMIM |
| Mitochondrial complex I deficiency | AFG1L mutations disrupt complex I assembly/stability, contributing to energy metabolism defects | ClinVar, OMIM |
| Combined oxidative phosphorylation deficiency | Defects in AFG1L cause multisystem mitochondrial dysfunction with variable clinical severity | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.5 | Low |
| Kidney | 7.2 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.4 | Moderate expression |
| HeLa | 7.8 | Moderate expression |
| HepG2 | 6.5 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.556C>T (p.Arg186Trp) | Missense | <0.01% | Likely loss of function; impairs ATPase activity |
| c.832G>A (p.Gly278Arg) | Missense | <0.01% | Uncertain significance; may affect protein stability |
| c.1021_1023del (p.Lys341del) | In-frame deletion | <0.01% | Loss of function; disrupts AAA domain |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that reduce ATPase activity or protein stability lead to impaired mitochondrial complex assembly and respiratory chain deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for AFG1L.
Dominant Negative (DN)
No dominant-negative mutations reported for AFG1L.
View complete mutation data：
Gene Ontology (GO)
| • ATP hydrolysis activity | • mitochondrial inner membrane |
| • mitochondrial respiratory chain complex IV assembly | • protein quality control |
| • AAA+ ATPase complex |
Pathways
• Mitochondrial complex IV assembly
• Mitochondrial protein quality control
• Oxidative phosphorylation
Protein Summary
AFG1L is a 651-amino acid mitochondrial AAA ATPase with a conserved AAA domain. It is anchored to the inner mitochondrial membrane and functions as a chaperone-like ATPase that facilitates the assembly and stability of respiratory chain complexes, especially complex IV. The protein interacts with assembly factors and unassembled subunits, promoting their proper incorporation or degradation. Loss of AFG1L function leads to mitochondrial respiratory chain deficiencies and is associated with early-onset mitochondrial disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AFG1L Knockout HEK293 Cell Line | EDJ-KQ11540 | Human | 246269 | Details Get a Quote |
| AFG1L Knockout HCT 116 Cell Line | EDJ-KQ38535 | Human | 246269 | Details Get a Quote |
| AFG1L Knockout A-549 Cell Line | EDJ-KQ39867 | Human | 246269 | Details Get a Quote |
| AFG1L Knockout HeLa Cell Line | EDJ-KQ39869 | Human | 246269 | Details Get a Quote |
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