ATP5PO Gene - ATP Synthase Peripheral Stalk Subunit OSCP
Mitochondrial ATP Synthase Complex Component and Disease Associations
Gene Information Card
| Symbol | ATP5PO |
|---|---|
| Full Name | ATP synthase peripheral stalk subunit OSCP |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 539 ncbi.nlm.nih.gov/gene/539 |
| Ensembl ID | ENSG00000160219 |
| UniProt ID | P48047 |
| OMIM ID | 603828 |
| HGNC ID | 845 |
| Aliases | OSCP, ATP5O, ATPO |
Description
The ATP5PO gene encodes the oligomycin sensitivity conferral protein (OSCP), a component of the peripheral stalk of mitochondrial ATP synthase (Complex V). This subunit is essential for coupling proton translocation to ATP synthesis and for the structural integrity of the enzyme complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type | Impaired ATP synthesis due to OSCP dysfunction | OMIM #614053 |
| Hearing loss, autosomal recessive | Disruption of mitochondrial energy metabolism in cochlear cells | ClinVar |
| Encephalopathy, mitochondrial | Reduced ATP production in neural tissues | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 22.3 | High |
| Liver | 15.1 | Medium |
| Brain | 12.8 | Medium |
| Kidney | 10.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| HEK293 | 29.7 | Embryonic kidney cells |
| K562 | 18.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245C>T (p.Thr82Ile) | Missense | <0.01% | Reduced ATP synthase activity |
| c.412G>A (p.Glu138Lys) | Missense | <0.01% | Impaired OSCP binding to F1 domain |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce ATP synthase assembly and activity, leading to mitochondrial dysfunction.
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:0000275) | • mitochondrial proton-transporting ATP synthase (GO:0005753) |
| • proton transmembrane transporter activity (GO:0015078) | • mitochondrial ATP synthesis coupled proton transport (GO:0042776) |
Pathways
• KEGG: hsa00190 – Oxidative phosphorylation
• Reactome: R-HSA-163210 – Formation of ATP by chemiosmotic coupling
Protein Summary
The OSCP protein (UniProt P48047) is a 213-amino-acid subunit of the mitochondrial ATP synthase peripheral stalk. It connects the F1 catalytic domain to the membrane-bound Fo domain, regulating ATP synthesis and conferring sensitivity to oligomycin. The protein is highly conserved and expressed in energy-demanding tissues.
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