HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ECSIT
ECSIT signaling integrator
Chromosome 19 · 19p13.2
NCBI Gene: 51295Ensembl: ENSG00000130159.16HGNC: HGNC:29548UniProt: Q9BQ95
71PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
enzyme inhibitor activityprotein bindingprotein-macromolecule adaptor activitymolecular adaptor activityneurodegenerative diseasehypertrophic cardiomyopathyRare familial disorder with hypertrophic cardiomyopathyleft ventricular noncompaction
✦AI Summary

ECSIT (Evolutionary Conserved Signaling Intermediate in Toll pathways) is a multifunctional adaptor protein with dual roles in innate immunity and mitochondrial homeostasis. As a component of the MCIA (Mitochondrial Complex I Assembly) complex, ECSIT facilitates mitochondrial respiratory chain complex I assembly 1. ECSIT binding induces conformational changes in ACAD9, converting it from a fatty acid oxidation enzyme to a complex I assembly factor 1. In innate immune signaling, ECSIT forms a TAK1-ECSIT-TRAF6 complex essential for TLR4-mediated NF-κB activation and inflammatory cytokine production 2. ECSIT undergoes ubiquitination by TRAF6 during TLR4 signaling, a process suppressible by PRDX1 3. Beyond inflammation, ECSIT regulates memory CD8+ T cell differentiation by controlling fumarate synthesis and TCF-1 expression, with elevated ECSIT correlating with improved cancer patient survival 4. ECSIT also maintains mitochondrial function through regulation of reactive oxygen species production and membrane potential 5. A novel mitochondrial-localized ECSIT-X4 isoform protects against pressure overload-induced cardiac hypertrophy by interacting with mitochondrial STAT3 6. Dysregulation of ECSIT contributes to multiple pathologies including Alzheimer's disease, cardiac hypertrophy, and cancer, establishing it as both an immune regulator and metabolic tumor suppressor 7.

Sources cited
1
ECSIT is a component of the MCIA complex facilitating mitochondrial complex I assembly; ECSIT binding induces conformational changes in ACAD9
PMID: 38086790
2
TAK1-ECSIT-TRAF6 complex is essential for TLR4-mediated NF-κB activation
PMID: 25371197
3
ECSIT undergoes TRAF6-mediated ubiquitination during TLR4 signaling, essential for NF-κB activation
PMID: 29929436
4
ECSIT is essential for memory CD8+ T cell differentiation via fumarate synthesis and TCF-1 regulation; elevated ECSIT correlates with cancer patient survival
PMID: 38326554
5
ECSIT regulates mitochondrial complex I assembly, reactive oxygen species production, and membrane potential; involved in Alzheimer's disease and cardiac hypertrophy
PMID: 39488037
6
ECSIT-X4 isoform localizes to mitochondria and protects against pressure overload-induced cardiac hypertrophy via mitochondrial STAT3
PMID: 39746855
7
ECSIT functions as a metabolic tumor suppressor and regulates mitophagy independent of immunity
PMID: 39384444
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
hypertrophic cardiomyopathyOpen Targets
0.11Weak
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.11Weak
left ventricular noncompactionOpen Targets
0.10Weak
hypertrophic cardiomyopathy 9Open Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
dilated cardiomyopathy 1JJOpen Targets
0.07Suggestive
dilated cardiomyopathyOpen Targets
0.07Suggestive
dilated cardiomyopathy 1CCOpen Targets
0.06Suggestive
dilated cardiomyopathy 1WOpen Targets
0.06Suggestive
dilated cardiomyopathy 2AOpen Targets
0.06Suggestive
fatal infantile encephalocardiomyopathyOpen Targets
0.06Suggestive
cardiomyopathy, dilated, 2IOpen Targets
0.05Suggestive
His bundle tachycardiaOpen Targets
0.05Suggestive
dilated cardiomyopathy 1HHOpen Targets
0.05Suggestive
dilated cardiomyopathy 1MOpen Targets
0.05Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.05Suggestive
dilated cardiomyopathy 1EEOpen Targets
0.05Suggestive
hypertrophic cardiomyopathy 7Open Targets
0.05Suggestive
dilated cardiomyopathy 1DDOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NDUFA1Protein interaction100%NDUFA11Protein interaction100%NDUFA3Protein interaction100%NDUFB9Protein interaction100%NDUFV1Protein interaction100%NDUFS5Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
59%
Ovary
47%
Brain
35%
Lung
29%
Bone Marrow
23%
Gene Interaction Network
Click a node to explore
ECSITNDUFA1NDUFA11NDUFA3NDUFB9NDUFV1NDUFS5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BQ95
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.58–1.03]
RankingsWhere ECSIT stands among ~20K protein-coding genes
  • #6,625of 20,598
    Most Researched71
  • #10,239of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedECSIT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Inhibition of TRAF6 ubiquitin-ligase activity by PRDX1 leads to inhibition of NFKB activation and autophagy activation.
PMID: 29929436
Autophagy · 2018
1.00
2
ECSIT facilitates memory CD8
PMID: 38326554
Nat Cell Biol · 2024
0.90
3
ECSIT: Biological function and involvement in diseases.
PMID: 39488037
Int Immunopharmacol · 2024
0.80
4
ECSIT-X4 is Required for Preventing Pressure Overload-Induced Cardiac Hypertrophy via Regulating Mitochondrial STAT3.
PMID: 39746855
Adv Sci (Weinh) · 2025
0.70
5
Emerging roles of ECSIT in immunity and tumorigenesis.
PMID: 39384444
Trends Cell Biol · 2025
0.60