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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ATP5MC1
ATP synthase membrane subunit c locus 1
Chromosome 17 · 17q21.32
NCBI Gene: 516Ensembl: ENSG00000159199.15HGNC: HGNC:841UniProt: P05496
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingproton channel activityproton motive force-driven ATP synthesisproton transmembrane transportcoronary artery diseasetype 2 diabetes mellitusAbnormality of the skeletal systemhypertension
✦AI Summary

ATP5MC1 (ATP synthase membrane subunit c locus 1) is a core component of mitochondrial Complex V (F₀F₁-ATP synthase), the enzyme responsible for ATP production from ADP 1. As part of the F₀ domain, ATP5MC1 forms a proton-conducting channel with subunit a (MT-ATP6), containing inlet and outlet half-channels that facilitate proton translocation from the intermembrane space into the matrix via a Grotthuss mechanism 1. This proton gradient drives a rotary catalytic mechanism in the F₁ head domain, coupling oxidative phosphorylation to ATP synthesis. ATP5MC1 expression is upregulated following acute aerobic exercise in skeletal muscle, reflecting enhanced mitochondrial oxidative capacity 2. The gene's glycine-rich domain is functionally critical, as mutations alter ATP synthase properties and permeability transition pore complex (PTPC) activity, exacerbating hypoxia/reoxygenation injury in cardiac myocytes 3. Multi-omics studies identify ATP5MC1 as putatively associated with sepsis pathogenesis, where reduced expression correlates with disease risk 4. In GFM1-deficient cells, ATP5MC1 upregulation suggests compensatory mitochondrial responses to impaired function 5. Network analyses highlight ATP5MC1 as a hub gene converging on mitochondrial metabolic pathways in paediatric asthma 6. These findings establish ATP5MC1 as essential for bioenergetics, cellular stress responses, and disease pathogenesis.

Sources cited
1
ATP5MC1 is a subunit of F₀ domain forming proton-conducting channel with MT-ATP6; describes inlet/outlet half-channels and Grotthuss proton mechanism
PMID: 37244256
2
ATP5MC1 is upregulated in skeletal muscle following acute aerobic exercise, associated with mitochondrial function
PMID: 40700217
3
Mutations in ATP5G1 (ATP5MC1) glycine-rich domain alter PTPC activity and worsen hypoxia/reoxygenation injury in cardiac myocytes
PMID: 33852870
4
ATP5MC1 gene expression shows negative correlation with sepsis risk (tier 3 evidence in Mendelian randomization)
PMID: 39933430
5
ATP5MC1 upregulation in GFM1 knockout cells suggests compensatory response to impaired mitochondrial function
PMID: 39952508
6
ATP5MC1 is identified as hub gene in mitochondrial metabolic pathways associated with paediatric asthma
PMID: 41896191
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.32Weak
type 2 diabetes mellitusOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.18Weak
hypertensionOpen Targets
0.12Weak
schizophreniaOpen Targets
0.12Weak
diabetic eye diseaseOpen Targets
0.07Suggestive
kidney failureOpen Targets
0.07Suggestive
essential hypertensionOpen Targets
0.07Suggestive
response to xenobiotic stimulusOpen Targets
0.06Suggestive
obesityOpen Targets
0.05Suggestive
cardiovascular diseaseOpen Targets
0.04Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.04Suggestive
major depressive disorderOpen Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
acute respiratory distress syndromeOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
metabolic diseaseOpen Targets
0.02Suggestive
ptosisOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP5MC3Protein interaction100%ATP5F1AProtein interaction100%ATP5F1BProtein interaction100%ATP5F1CProtein interaction100%ATP5F1DProtein interaction100%ATP5F1EProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
28%
Brain
20%
Ovary
13%
Lung
12%
Bone Marrow
12%
Gene Interaction Network
Click a node to explore
ATP5MC1ATP5MC3ATP5F1AATP5F1BATP5F1CATP5F1DATP5F1E
PROTEIN STRUCTURE
Preparing viewer…
PDB8H9S · 2.53 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.67Intermediate
Observed/Expected LoF0.32 [0.15–0.72]
RankingsWhere ATP5MC1 stands among ~20K protein-coding genes
  • #9,304of 20,598
    Most Researched46
  • #5,592of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedATP5MC1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Depletion of phosphatidylinositol 4-phosphate at the Golgi translocates K-Ras to mitochondria.
PMID: 31331963
J Cell Sci · 2019
1.00
2
Transcriptional Signatures of Aerobic Exercise-Induced Muscle Adaptations in Humans.
PMID: 40700217
J Funct Morphol Kinesiol · 2025
0.86
3
Mitochondrial-related genome-wide Mendelian randomization identifies putatively causal genes in the pathogenesis of sepsis.
PMID: 39933430
Surgery · 2025
0.71
4
Evaluation of GFM1 mutations pathogenicity through in silico tools, RNA sequencing and mitophagy pahtway in GFM1 knockout cells.
PMID: 39952508
Int J Biol Macromol · 2025
0.57
5
Co-treatment with melatonin and ortho-topolin riboside exhibits anti-proliferation activity in radioresistant MDA-MB-231 cells by altering metabolic and transcriptomic profiles.
PMID: 39667070
Biochem Biophys Res Commun · 2025
0.43