ATP5PD: ATP Synthase Peripheral Stalk Subunit D
Mitochondrial Complex V Component and Its Role in Cellular Energy Metabolism
Gene Information Card
| Symbol | ATP5PD |
|---|---|
| Full Name | ATP synthase peripheral stalk subunit d |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 518 ncbi.nlm.nih.gov/gene/518 |
| Ensembl ID | ENSG00000167840 |
| UniProt ID | O75947 |
| OMIM ID | 603745 |
| HGNC ID | 838 |
| Aliases | ATP5H, ATP synthase subunit d, mitochondrial |
Description
ATP5PD encodes the d subunit of mitochondrial ATP synthase (Complex V), which is part of the peripheral stalk connecting the F1 catalytic core to the Fo membrane domain. This subunit is essential for the structural integrity and rotational catalysis of the enzyme, driving ATP synthesis from ADP and inorganic phosphate using the proton gradient across the inner mitochondrial membrane.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type | Loss of ATP synthase assembly/activity impairs oxidative phosphorylation | ClinVar: pathogenic variants in ATP5PD associated with mitochondrial encephalopathy, lactic acidosis, and developmental delay |
| Leigh syndrome | Disruption of ATP production in brain leads to neurodegeneration | OMIM: rare ATP5PD mutations reported in Leigh-like phenotypes |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 22.1 | High |
| Liver | 15.3 | Medium |
| Brain | 12.8 | Medium |
| Kidney | 10.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.0 | High expression in cervical cancer cell line |
| HEK293 | 20.5 | High expression in embryonic kidney cells |
| K562 | 18.2 | Moderate expression in leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Reduced ATP synthase activity; associated with mitochondrial complex V deficiency |
| c.346C>T (p.Arg116Trp) | Missense | <0.01% | Impaired assembly of peripheral stalk; reported in Leigh syndrome |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg82Gln) disrupt subunit d folding and integration into Complex V, reducing ATP synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported for ATP5PD.
Dominant Negative (DN)
Heterozygous mutations may interfere with complex assembly, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial proton-transporting ATP synthase complex (GO:0000275) | • proton-transporting ATP synthase activity (GO:0046933) |
| • mitochondrial proton-transporting ATP synthase complex (GO:0005753) | • ATP synthesis coupled proton transport (GO:0015986) |
Pathways
• KEGG hsa00190: Oxidative phosphorylation
• Reactome R-HSA-163210: Formation of ATP by chemiosmotic coupling
Protein Summary
ATP5PD encodes the d subunit of mitochondrial ATP synthase, a 161-amino-acid protein (18.5 kDa) localized to the inner mitochondrial membrane. The peripheral stalk subunit d is critical for coupling proton flow through Fo to rotational catalysis in F1. Loss of function leads to mitochondrial energy failure, manifesting as encephalopathy, lactic acidosis, and developmental delay.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5PD Knockout HEK293 Cell Line | EDJ-KQ7055 | Human | 10476 | Details Get a Quote |
| ATP5PD Knockout HeLa Cell Line | EDJ-KQ30476 | Human | 10476 | Details Get a Quote |
| ATP5PD Knockout A-549 Cell Line | EDJ-KQ31851 | Human | 10476 | Details Get a Quote |
| ATP5PD Knockout HCT 116 Cell Line | EDJ-KQ31852 | Human | 10476 | Details Get a Quote |
