ATP5MJ: ATP Synthase Membrane Subunit J
Mitochondrial Complex V Component Involved in ATP Synthesis
Gene Information Card
| Symbol | ATP5MJ |
|---|---|
| Full Name | ATP synthase membrane subunit J |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 100129295 ncbi.nlm.nih.gov/gene/100129295 |
| Ensembl ID | ENSG00000205542 |
| UniProt ID | Q9H1U9 |
| OMIM ID | 617667 |
| HGNC ID | 44167 |
| Aliases | ATP5MPL, ATP5I, ATP synthase subunit e, mitochondrial |
Description
ATP5MJ encodes a subunit of mitochondrial ATP synthase (Complex V), which catalyzes ATP synthesis from ADP and inorganic phosphate using the proton gradient across the inner mitochondrial membrane. The protein is a membrane subunit essential for complex assembly and stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type 7 | Loss-of-function mutations impair ATP synthase assembly and activity, leading to mitochondrial dysfunction | OMIM #617667; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Skeletal Muscle | 15.2 | High |
| Brain | 6.1 | Low |
| Kidney | 9.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.2 | Medium expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; associated with complex V deficiency |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; impaired translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, reducing ATP synthase assembly and activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; recessive inheritance pattern.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial proton-transporting ATP synthase complex | • ATP synthesis coupled proton transport |
| • mitochondrial inner membrane | • proton-transporting ATP synthase activity |
| • rotational mechanism |
Pathways
• Oxidative phosphorylation
• Thermogenesis
• Metabolic pathways
Protein Summary
ATP5MJ is a small (8.2 kDa) integral membrane protein of the mitochondrial inner membrane. It is a component of the F0 sector of ATP synthase, contributing to proton channel function and complex stability. The protein is ubiquitously expressed with highest levels in tissues with high energy demand.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5MJ Knockout HEK293 Cell Line | EDJ-KQ50883 | Human | 9556 | Details Get a Quote |
| ATP5MJ Knockout HeLa Cell Line | EDJ-KQ55196 | Human | 9556 | Details Get a Quote |
| ATP5MJ Knockout A-549 Cell Line | EDJ-KQ63678 | Human | 9556 | Details Get a Quote |
| ATP5MJ Knockout HCT 116 Cell Line | EDJ-KQ72140 | Human | 9556 | Details Get a Quote |
