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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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OCEL1
occludin/ELL domain containing 1
Chromosome 19 · 19p13.11
NCBI Gene: 79629Ensembl: ENSG00000099330.10HGNC: HGNC:26221UniProt: M0R0F7
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
bicellular tight junction assemblybicellular tight junctionapical plasma membranecytoplasmic vesiclemetabolic syndromehypogonadismnervous system benign neoplasmcornea transplantation
✦AI Summary

OCEL1 (occludin/ELL domain containing 1) is a negative regulator of NF-κB signaling that plays a critical role in controlling inflammatory responses to bacterial infection. Under basal conditions, OCEL1 binds the NEMO protein and suppresses TRAF6-mediated K63-linked polyubiquitination, thereby inhibiting NF-κB signaling 1. During bacterial infection, bacterial peptidyl-prolyl isomerases recognize a palindromic proline-rich element (PPE) in OCEL1's amino terminus, promoting its degradation and thereby releasing NF-κB suppression to enable appropriate inflammatory responses 1. Mice expressing OCEL1 with a mutated PPE showed dampened inflammation and increased susceptibility to Pseudomonas aeruginosa, establishing OCEL1's infection-sensing function as essential for host defense 1. Beyond immunity, OCEL1 expression correlates with disease prognosis in human malignancies: low OCEL1 expression is significantly associated with poor prognosis in non-small cell lung cancer, including lymph node metastasis and higher TNM stage 2. OCEL1 also appears relevant to chemotherapy response, as it was identified in a four-gene signature predicting paclitaxel sensitivity in HER2-negative breast cancer 3. These findings suggest OCEL1 functions as both an infection sensor and a prognostic biomarker across distinct pathological contexts.

Sources cited
1
OCEL1 negatively regulates NF-κB signaling and senses bacterial infection through its PPE domain
PMID: 41417924
2
Low OCEL1 expression correlates with poor prognosis in non-small cell lung cancer
PMID: 32083572
3
OCEL1 is part of a four-gene signature predicting paclitaxel sensitivity in HER2-negative breast cancer
PMID: 30520096
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
metabolic syndromeOpen Targets
0.07Suggestive
hypogonadismOpen Targets
0.03Suggestive
nervous system benign neoplasmOpen Targets
0.03Suggestive
cornea transplantationOpen Targets
0.03Suggestive
lymphatic system diseaseOpen Targets
0.03Suggestive
vein disorderOpen Targets
0.03Suggestive
luminal A breast carcinomaOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
Pathologic fractureOpen Targets
0.02Suggestive
jaw diseaseOpen Targets
0.02Suggestive
Aicardi syndromeOpen Targets
0.02Suggestive
macular holesOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
bacterial diseaseOpen Targets
0.01Suggestive
infectionOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
lymph node metastatic carcinomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FRMPD2Shared pathway100%MPP7Shared pathway33%MARVELD2Shared pathway25%POF1BShared pathway25%CLDN9Shared pathway25%CLDN6Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Lung
29%
Ovary
26%
Brain
17%
Heart
16%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
OCEL1FRMPD2MPP7MARVELD2POF1BCLDN9CLDN6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H607
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.59–1.16]
RankingsWhere OCEL1 stands among ~20K protein-coding genes
  • #16,839of 20,598
    Most Researched11
  • #12,068of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedOCEL1
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Human OCEL1 senses bacterial infection to unlock inflammatory responses.
PMID: 41417924
Sci Immunol · 2025
1.00
2
Low OCEL1 expression is associated with poor prognosis in human non-small cell lung cancer.
PMID: 32083572
Cancer Biomark · 2020
0.75
3
A four-gene signature predicts the efficacy of paclitaxel-based neoadjuvant therapy in human epidermal growth factor receptor 2-negative breast cancer.
PMID: 30520096
J Cell Biochem · 2019
0.50
4
Independent variant analysis of
PMID: 28361097
Mol Genet Genomic Med · 2017
0.25