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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COX7A1
cytochrome c oxidase subunit 7A1
Chromosome 19 · 19q13.12
NCBI Gene: 1346Ensembl: ENSG00000161281.11HGNC: HGNC:2287UniProt: P24310
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingprotein-macromolecule adaptor activitymitochondrial respirasome assemblyneurodegenerative diseaseAlzheimer diseaselysosomal storage diseasemultiple sclerosis
✦AI Summary

COX7A1 is a nuclear-encoded subunit of mitochondrial cytochrome c oxidase (Complex IV), the terminal enzyme of the electron transport chain that catalyzes oxygen reduction to water 1. As a component of respiratory Complex IV, COX7A1 drives oxidative phosphorylation and participates in mitochondrial energy generation 2. Functionally, COX7A1 acts as an assembly factor promoting homodimerization of Complex IV and formation of mitochondrial respirasomes (supercomplexes containing two COX units), which enhance respiratory chain efficiency 2. COX7A1 expression is reversibly regulated by metabolic state: it preferentially supports oxidative phosphorylation under glycolytic conditions through distinct mitochondrial respiratory chain organization 2. In skeletal muscle, COX7A1 expression associates with glucose uptake and aerobic capacity (VO2max), though age-related epigenetic changes via promoter DNA methylation reduce expression in elderly individuals 3. COX7A1 exists as a muscle-specific isoform (VIIa-M) regulated by tissue-specific transcription factors 1. Beyond normal metabolism, COX7A1 overexpression enhances ferroptosis sensitivity in lung cancer cells through increased mitochondrial TCA cycle activity and Complex IV function, while suppressing autophagy 4, 5. These findings suggest COX7A1's potential as a therapeutic target in cancer metabolic pathways.

Sources cited
1
COX7A1 isoforms promote functional reorganization of distinct mitochondrial respiratory chain structures and preferentially maintain OXPHOS upon metabolic rewiring toward glycolysis
PMID: 36198313
2
COX7A1 expression associates with glucose uptake and VO2max; age increases promoter DNA methylation and decreases COX7A1 expression in skeletal muscle
PMID: 18488190
3
COX7A1 is a tissue-specific muscle isoform (VIIa-M) of cytochrome c oxidase subunit located on chromosome 19q13.1, organized in four exons
PMID: 9344674
4
COX7A1 overexpression enhances ferroptosis sensitivity in NSCLC cells via enhancing TCA cycle and Complex IV activity while suppressing mitochondrial autophagy
PMID: 36418320
5
COX7A1 overexpression suppresses lung cancer cell proliferation and promotes apoptosis by blocking autophagic flux through PGC-1α and NOX2 regulation
PMID: 31663688
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
Alzheimer diseaseOpen Targets
0.34Weak
lysosomal storage diseaseOpen Targets
0.33Weak
multiple sclerosisOpen Targets
0.33Weak
Parkinson diseaseOpen Targets
0.33Weak
neuroinflammatory disorderOpen Targets
0.31Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.07Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
dilated cardiomyopathyOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
dilated cardiomyopathy 1CCOpen Targets
0.05Suggestive
dilated cardiomyopathy 1WOpen Targets
0.05Suggestive
dilated cardiomyopathy 2AOpen Targets
0.05Suggestive
dilated cardiomyopathy 1JJOpen Targets
0.05Suggestive
dilated cardiomyopathy 1MOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NDUFB5Protein interaction100%NDUFC2Protein interaction100%NDUFB3Protein interaction100%NDUFAB1Protein interaction100%NDUFS1Protein interaction100%NDUFV2Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Lung
6%
Ovary
4%
Brain
4%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
COX7A1NDUFB5NDUFC2NDUFB3NDUFAB1NDUFS1NDUFV2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P24310
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.51 [1.03–1.92]
RankingsWhere COX7A1 stands among ~20K protein-coding genes
  • #11,891of 20,598
    Most Researched30
  • #17,414of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedCOX7A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Two independent respiratory chains adapt OXPHOS performance to glycolytic switch.
PMID: 36198313
Cell Metab · 2022
1.00
2
Age influences DNA methylation and gene expression of COX7A1 in human skeletal muscle.
PMID: 18488190
Diabetologia · 2008
0.90
3
Genomic sequence and organization of the human gene for cytochrome c oxidase subunit (COX7A1) VIIa-M.
PMID: 9344674
Genomics · 1997
0.80
4
Construction of a gene model related to the prognosis of patients with gastric cancer receiving immunotherapy and exploration of COX7A1 gene function.
PMID: 38494472
Eur J Med Res · 2024
0.70
5
COX7A1 enhances the sensitivity of human NSCLC cells to cystine deprivation-induced ferroptosis via regulating mitochondrial metabolism.
PMID: 36418320
Cell Death Dis · 2022
0.60