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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATP5F1A
ATP synthase F1 subunit alpha
Chromosome 18 Β· 18q21.1
NCBI Gene: 498Ensembl: ENSG00000152234.17HGNC: HGNC:823UniProt: P25705
413PubMed Papers
23Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
MHC class I protein bindingproton motive force-driven mitochondrial ATP synthesispositive regulation of blood vessel endothelial cell migrationprotein bindingmitochondrial complex V (ATP synthase) deficiency, nuclear type 4AIsolated ATP synthase deficiencymitochondrial complex V (ATP synthase) deficiency, nuclear type 4Bgenetic disorder
✦AI Summary

ATP5F1A encodes the alpha subunit of mitochondrial ATP synthase complex V, which catalyzes ATP synthesis from ADP using the proton gradient generated by the respiratory chain 1. The protein forms the catalytic core of the F1 domain together with the beta subunit (ATP5F1B), though ATP5F1A itself does not contain the high-affinity ATP-binding sites 2. ATP5F1A function is regulated by post-translational modifications including tyrosine phosphorylation at residues Y243 and Y246 by TNK2/ACK1 kinase, which prevents binding to the inhibitor ATP5IF1 and enhances ATP synthase activity in cancer cells 3. Lactylation at K531, regulated by SIRT3, impairs ATP synthase activity and increases reactive oxygen species generation 4. Disease-causing mutations in ATP5F1A result in mitochondrial complex V deficiency with variable neurologic phenotypes including developmental delay, motor dysfunction, hypotonia, epilepsy, and dystonia 15. Functional studies in zebrafish demonstrate that ATP5F1A deficiency causes growth retardation, motor neuron defects, and dysregulated autophagy pathways 5. The protein is also involved in mitochondrial quality control pathways and can be released extracellularly as part of alternative mitochondrial clearance mechanisms 6. These findings establish ATP5F1A as essential for cellular energy metabolism and highlight its clinical significance in mitochondrial disorders.

Sources cited
1
ATP5F1A encodes ATP synthase alpha subunit and mutations cause variable neurologic phenotypes
PMID: 34954817
2
ATP5F1A forms catalytic core with ATP5F1B but lacks high-affinity ATP-binding sites
PMID: 39540264
3
TNK2/ACK1-mediated phosphorylation at Y243/Y246 prevents ATP5IF1 binding and enhances ATP synthase activity
PMID: 35895804
4
K531 lactylation regulated by SIRT3 impairs ATP synthase activity and increases ROS
PMID: 40800583
5
ATP5F1A mutations cause developmental delay and motor dysfunction with autophagy dysregulation
PMID: 41053757
6
ATP5F1A involved in alternative mitochondrial quality control through extracellular release
PMID: 33218272
Disease Associationsβ“˜23
mitochondrial complex V (ATP synthase) deficiency, nuclear type 4AOpen Targets
0.65Moderate
Isolated ATP synthase deficiencyOpen Targets
0.65Moderate
mitochondrial complex V (ATP synthase) deficiency, nuclear type 4BOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.39Weak
Mitochondrial encephalopathyOpen Targets
0.37Weak
lactic acidosisOpen Targets
0.27Weak
mitochondrial diseaseOpen Targets
0.12Weak
nonpapillary renal cell carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
osteosarcomaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
primary angle closure glaucomaOpen Targets
0.06Suggestive
device complicationOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
prostate cancerOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Duane retraction syndromeOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
Blackfan-Diamond anemiaOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
Combined oxidative phosphorylation deficiency 22UniProt
Mitochondrial complex V deficiency, nuclear type 4AUniProt
Mitochondrial complex V deficiency, nuclear type 4BUniProt
Pathogenic Variants5
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)Likely pathogenic
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
β˜…β˜…β˜†β˜†2025β†’ Residue 418
NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His)Pathogenic
not provided|Lactic acidosis|Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
β˜…β˜…β˜†β˜†2022β†’ Residue 207
NM_004046.6(ATP5F1A):c.1176+1G>CLikely pathogenic
not provided|Combined oxidative phosphorylation deficiency 22
β˜…β˜…β˜†β˜†2020
NM_004046.6(ATP5F1A):c.327G>C (p.Leu109Phe)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 109
NM_004046.6(ATP5F1A):c.962A>G (p.Tyr321Cys)Pathogenic
Combined oxidative phosphorylation deficiency 22
β˜†β˜†β˜†β˜†2013β†’ Residue 321
View on ClinVar β†—
Related Genes
NDUFS2Protein interaction100%UQCRFS1Protein interaction100%NDUFV1Protein interaction100%UQCRC2Protein interaction100%CYC1Protein interaction100%COX5AProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
24%
Liver
22%
Lung
15%
Ovary
14%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
ATP5F1ANDUFS2UQCRFS1NDUFV1UQCRC2CYC1COX5A
PROTEIN STRUCTURE
Preparing viewer…
PDB8H9E Β· 2.53 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.58Moderately Constrained
pLIβ“˜
0.29Tolerant
Observed/Expected LoF0.41 [0.30–0.58]
RankingsWhere ATP5F1A stands among ~20K protein-coding genes
  • #695of 20,598
    Most Researched413 Β· top 5%
  • #3,467of 5,498
    Most Pathogenic Variants5
  • #3,814of 17,882
    Most Constrained (LOEUF)0.58 Β· top quartile
Genes detectedATP5F1A
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
PHB2 (prohibitin 2) promotes PINK1-PRKN/Parkin-dependent mitophagy by the PARL-PGAM5-PINK1 axis.
PMID: 31177901
Autophagy Β· 2020
1.00
2
Alternative mitochondrial quality control mediated by extracellular release.
PMID: 33218272
Autophagy Β· 2021
0.90
3
Proteomic dissection of large extracellular vesicle surfaceome unravels interactive surface platform.
PMID: 34817906
J Extracell Vesicles Β· 2021
0.80
4
ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish.
PMID: 41053757
J Transl Med Β· 2025
0.70
5
Overexpression of
PMID: 38910562
Circ Heart Fail Β· 2024
0.68