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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
COX4I1
cytochrome c oxidase subunit 4I1
Chromosome 16 Β· 16q24.1
NCBI Gene: 1327Ensembl: ENSG00000131143.10HGNC: HGNC:2265UniProt: H3BNV9
139PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
respiratory chain complex IVmitochondrionmitochondrial membraneprotein bindingmitochondrial complex IV deficiency, nuclear type 16neurodegenerative diseaseIsolated cytochrome C oxidase deficiencyleigh syndrome due to mitochondrial complex iv deficiency
✦AI Summary

COX4I1 (cytochrome c oxidase subunit 4 isoform 1) is a nuclear-encoded mitochondrial protein that functions as a critical structural and regulatory component of respiratory chain Complex IV (cytochrome c oxidase). COX4I1 is essential for the terminal step of oxidative phosphorylation, catalyzing the reduction of molecular oxygen to water while transferring electrons from cytochrome c and generating the proton gradient necessary for ATP synthesis 1. Mechanistically, COX4I1 contributes to mitochondrial Complex IV assembly and function 2. The protein regulates cellular energetics through lysine crotonylation modifications, with downregulation impairing cellular energy production and exacerbating tissue injury 3. COX4I1 expression is coordinately regulated with other mitochondrial oxidative phosphorylation genes during metabolic stress and sepsis onset 4. Additionally, COX4I1 is regulated at the transcriptional level by stress response pathways during glutamine deprivation 5. Clinically, COX4I1 mutations cause mitochondrial Complex IV deficiency, manifesting as short stature, poor weight gain, decreased COX activity, impaired ATP production, and elevated reactive oxygen species 1. COX4I1 represents a therapeutic vulnerability in acute myeloid leukemia, where depletion induces ferroptosis and synergizes with venetoclax treatment 2. The protein is also implicated in hepatocellular carcinoma progression through mitophagy regulation 6.

Sources cited
1
COX4I1 is a nuclear-encoded gene critical for Complex IV function; mutations cause decreased COX activity, impaired ATP production, elevated ROS, and mitochondrial disease with growth retardation
PMID: 28766551
2
COX4I1 is essential for leukemia cell survival and Complex IV assembly; its depletion induces ferroptosis and synergizes with venetoclax
PMID: 39716856
3
COX4I1 undergoes lysine crotonylation modification; downregulation decreases cellular energetics and exacerbates renal injury
PMID: 38977708
4
COX4I1 is a mitochondria-linked gene with tissue-specific downregulation during early sepsis and metabolic dysfunction
PMID: 40411399
5
COX4I1 expression is suppressed during glutamine deprivation as an adaptive mechanism to regulate oxidative phosphorylation and ROS levels
PMID: 34105294
6
COX4I1 is involved in mitophagy regulation in hepatocellular carcinoma through LAMP1 overlap measurements
PMID: 33754036
Disease Associationsβ“˜21
mitochondrial complex IV deficiency, nuclear type 16Open Targets
0.64Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
Isolated cytochrome C oxidase deficiencyOpen Targets
0.45Moderate
leigh syndrome due to mitochondrial complex iv deficiencyOpen Targets
0.33Weak
mitochondrial diseaseOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.08Suggestive
medullary thyroid gland carcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
leukemiaOpen Targets
0.07Suggestive
thyroid cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.06Suggestive
glioblastoma multiformeOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
jaw diseaseOpen Targets
0.05Suggestive
schizophreniaOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
papillary thyroid carcinomaOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
adenocarcinomaOpen Targets
0.03Suggestive
Mitochondrial complex IV deficiency, nuclear type 16UniProt
Pathogenic Variants2
NM_001861.6(COX4I1):c.303_304delinsTT (p.Lys101_Thr102delinsAsnSer)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 1
β˜†β˜†β˜†β˜†2020β†’ Residue 101
NM_001861.6(COX4I1):c.454C>A (p.Pro152Thr)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 16
β˜†β˜†β˜†β˜†2020β†’ Residue 152
View on ClinVar β†—
Related Genes
UQCR10Protein interaction100%NDUFS2Protein interaction100%UQCR11Protein interaction100%UQCRHProtein interaction100%UQCRFS1Protein interaction100%NDUFV1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
43%
Liver
32%
Brain
30%
Lung
22%
Ovary
21%
Gene Interaction Network
Click a node to explore
COX4I1UQCR10NDUFS2UQCR11UQCRHUQCRFS1NDUFV1
PROTEIN STRUCTURE
Preparing viewer…
PDB5Z62 Β· 3.60 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.15LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.54–1.15]
RankingsWhere COX4I1 stands among ~20K protein-coding genes
  • #3,305of 20,598
    Most Researched139 Β· top quartile
  • #4,279of 5,498
    Most Pathogenic Variants2
  • #11,978of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedCOX4I1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
SIRT5 regulation of ammonia-induced autophagy and mitophagy.
PMID: 25700560
Autophagy Β· 2015
1.00
2
Targeting the transmembrane cytokine co-receptor neuropilin-1 in distal tubules improves renal injury and fibrosis.
PMID: 38977708
Nat Commun Β· 2024
0.90
3
Nuclear Control of Mitochondrial Homeostasis and Venetoclax Efficacy in AML via COX4I1.
PMID: 39716856
Adv Sci (Weinh) Β· 2025
0.80
4
Cellular senescence in hepatocellular carcinoma induced by a long non-coding RNA-encoded peptide PINT87aa by blocking FOXM1-mediated
PMID: 33754036
Theranostics Β· 2021
0.70
5
Multi-Omics and -Organ Insights into Energy Metabolic Adaptations in Early Sepsis Onset.
PMID: 40411399
Adv Sci (Weinh) Β· 2025
0.60