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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ATP5PD
ATP synthase peripheral stalk subunit d
Chromosome 17 · 17q25.1
NCBI Gene: 10476Ensembl: ENSG00000167863.13HGNC: HGNC:845UniProt: A0PJH2
127PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial inner membraneproton-transporting ATP synthase complexprotein bindingmitochondrionhepatocellular carcinomaAlzheimer diseasesystemic juvenile idiopathic arthritisneoplasm
✦AI Summary

ATP5PD encodes the peripheral stalk subunit d of mitochondrial ATP synthase (Complex V), a critical component of the F₀F₁-ATP synthase complex 1. This subunit functions as part of the stationary peripheral stalk that acts as a stator, holding the catalytic α₃β₃ core and subunit a static relative to rotating central stalk elements 1. During oxidative phosphorylation, ATP5PD enables coupling of proton translocation across the inner mitochondrial membrane to ATP synthesis through a rotary catalytic mechanism 1. Clinically, ATP5PD dysfunction is emerging as relevant to multiple diseases. Proteomic analysis of autoimmune-related kidney diseases identified ATP5PD among significantly altered mitochondrial proteins in tubular tissues, implicating mitochondrial dysfunction in kidney damage pathways 2. In HIV-1-infected macrophages exposed to cocaine, ATP5PD upregulation by the sigma-1 receptor antagonist BD1047 protects against mitochondrial damage and neurotoxicity 3. Variants in ATP synthase subunit genes, including ATP5PO (structurally related to ATP5PD), cause variable neurologic phenotypes ranging from hypotonia to epilepsy with developmental delay and movement disorders 4. Additionally, dysregulation of ATP synthase genes occurs in schizophrenia and Alzheimer's disease, suggesting ATP5PD perturbation contributes to neurodegeneration and psychiatric pathology through impaired energy metabolism 56.

Sources cited
1
ATP5PD is peripheral stalk subunit d of F₀F₁-ATP synthase; functions as stator holding catalytic core and subunit a static relative to rotating elements; enables ATP synthesis coupling to proton translocation
PMID: 37244256
2
ATP5PD identified as significantly altered mitochondrial protein in renal tubular tissues across autoimmune-related kidney diseases, implicating mitochondrial dysfunction in kidney damage
PMID: 39164435
3
ATP5PD upregulation occurs with BD1047 treatment in HIV-infected macrophages exposed to cocaine; protects against mitochondrial damage and neurotoxicity
PMID: 39335448
4
Variants in ATP synthase subunit genes including ATP5PO cause variable neurologic phenotypes with movement disorders, developmental delay, epilepsy, and hyperlactatemia
PMID: 34954817
5
ATP synthase genes including ATP5H show down-regulation in schizophrenia brain samples, suggesting reduced ATP synthesis contributes to cognitive and behavioral aberrations
PMID: 36640659
6
ATP5H/KCTD2 locus associated with Alzheimer's disease risk; ATP5H functions in mitochondrial energy production and neuronal hyperpolarization during cellular stress
PMID: 23857120
Disease Associationsⓘ20
hepatocellular carcinomaOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.00Suggestive
dermatomyositisOpen Targets
0.00Suggestive
polycystic ovary syndromeOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.00Suggestive
myeloid sarcomaOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
preeclampsiaOpen Targets
0.00Suggestive
skin squamous cell carcinomaOpen Targets
0.00Suggestive
small vessel strokeOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
amyotrophic lateral sclerosisOpen Targets
0.00Suggestive
Huntington diseaseOpen Targets
0.00Suggestive
open-angle glaucomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP5MFProtein interaction100%ATP5MGProtein interaction100%ATP6V0CProtein interaction100%ATP6V0BProtein interaction100%JARID2Protein interaction100%ATP6Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
43%
Liver
38%
Lung
24%
Ovary
19%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
ATP5PDATP5MFATP5MGATP6V0CATP6V0BJARID2ATP6
PROTEIN STRUCTURE
Preparing viewer…
PDB8H9S · 2.53 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.87LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.55 [0.36–0.87]
RankingsWhere ATP5PD stands among ~20K protein-coding genes
  • #3,677of 20,598
    Most Researched127 · top quartile
  • #7,706of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedATP5PD
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Proteomic analysis of laser captured tubular tissues reveals complement activation and mitochondrial dysfunction in autoimmune related kidney diseases.
PMID: 39164435
Sci Rep · 2024
1.00
2
Analysis of Sigma-1 Receptor Antagonist BD1047 Effect on Upregulating Proteins in HIV-1-Infected Macrophages Exposed to Cocaine Using Quantitative Proteomics.
PMID: 39335448
Biomedicines · 2024
0.86
3
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
PMID: 34954817
Ann Neurol · 2022
0.71
4
ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.
PMID: 23857120
Mol Psychiatry · 2014
0.57
5
Mitochondrial reprogramming via ATP5H loss promotes multimodal cancer therapy resistance.
PMID: 30124467
J Clin Invest · 2018
0.43