ATP5MF: ATP Synthase Membrane Subunit F
Mitochondrial Complex V Component and Oxidative Phosphorylation Regulator
Gene Information Card
| Symbol | ATP5MF |
|---|---|
| Full Name | ATP synthase membrane subunit F |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.12 |
| NCBI Gene ID | 5209 ncbi.nlm.nih.gov/gene/5209 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | P56134 |
| OMIM ID | 603864 |
| HGNC ID | HGNC:846 |
| Aliases | ATP5J2, ATP5JF, F6, ATP synthase subunit f |
Description
ATP5MF encodes the membrane subunit f of mitochondrial ATP synthase (Complex V), which catalyzes ATP synthesis from ADP and inorganic phosphate during oxidative phosphorylation. This subunit is essential for proton translocation and enzyme assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type | Loss-of-function mutations impair ATP synthesis | ClinVar, OMIM |
| Leigh syndrome | Disrupted oxidative phosphorylation leads to neurodegeneration | ClinVar |
| Cardiomyopathy, hypertrophic | Reduced ATP production affects cardiac muscle | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Liver | 22.1 | Medium |
| Brain | 18.5 | Medium |
| Kidney | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 62.1 | High expression |
| HeLa | 55.4 | High expression |
| HepG2 | 48.9 | High expression |
| K562 | 30.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.194C>T (p.Pro65Leu) | Missense | Rare | Likely loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function |
| c.238_239del (p.Leu80fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense, frameshift, and start-loss variants reduce ATP synthase assembly or activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial proton-transporting ATP synthase complex (GO:0000276) | • proton transmembrane transporter activity (GO:0015078) |
| • mitochondrial ATP synthesis coupled proton transport (GO:0042776) | • mitochondrion (GO:0005739) |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Thermogenesis (KEGG: hsa04714)
• Parkinson disease (KEGG: hsa05012)
Protein Summary
ATP5MF encodes a small integral membrane protein (subunit f) of mitochondrial ATP synthase. It is located in the inner mitochondrial membrane and contributes to the proton channel and structural integrity of Complex V. The protein is highly expressed in tissues with high energy demand such as heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5MF Knockout HEK293 Cell Line | EDJ-KQ50880 | Human | 9551 | Details Get a Quote |
| ATP5MF Knockout HeLa Cell Line | EDJ-KQ55193 | Human | 9551 | Details Get a Quote |
| ATP5MF Knockout A-549 Cell Line | EDJ-KQ63675 | Human | 9551 | Details Get a Quote |
| ATP5MF Knockout HCT 116 Cell Line | EDJ-KQ72137 | Human | 9551 | Details Get a Quote |
