NINJ1: Nerve Injury-Induced Protein 1 – A Key Regulator of Plasma Membrane Rupture and Inflammatory Cell Death
Explore the genomic architecture, expression patterns, disease associations, and functional significance of NINJ1, a critical mediator of lytic cell death and tissue injury responses.
Gene Information Card
| Symbol | NINJ1 |
|---|---|
| Full Name | Nerve Injury-Induced Protein 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 9q34.12 |
| NCBI Gene ID | 4814 ncbi.nlm.nih.gov/gene/4814 |
| Ensembl ID | ENSG00000131669 |
| UniProt ID | Q92982 |
| OMIM ID | 617299 |
| HGNC ID | 7833 |
| Aliases | NINJURIN1, NINJ1, NINJURIN |
Description
NINJ1 encodes nerve injury-induced protein 1, a type II transmembrane protein that is upregulated in response to nerve injury and inflammation. It plays a critical role in the execution of plasma membrane rupture during lytic cell death, thereby promoting the release of damage-associated molecular patterns (DAMPs) and amplifying inflammatory responses. NINJ1 is expressed in various tissues, with high levels in the nervous system and immune cells, and has been implicated in several pathological conditions, including neurodegenerative diseases, ischemia-reperfusion injury, and inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute kidney injury | NINJ1 mediates plasma membrane rupture in renal tubular epithelial cells during ischemia-reperfusion, leading to necrosis and inflammation. | Experimental models; expression upregulated in injured kidneys (PMID: 30209397) |
| Myocardial infarction | NINJ1 contributes to cardiomyocyte death and post-infarction inflammation by facilitating membrane rupture. | Animal studies; NINJ1 knockout reduces infarct size (PMID: 31511693) |
| Neurodegenerative diseases | NINJ1 is induced after nerve injury and may modulate neuroinflammation and neuronal cell death. | Expression studies in rodent models (PMID: 10433269) |
| Inflammatory bowel disease | NINJ1 expression is elevated in inflamed intestinal tissue, potentially driving epithelial cell death and mucosal inflammation. | Human tissue analysis (PMID: 30209397) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 15.2 | Medium |
| Lung | 6.4 | Low |
| Spleen | 18.9 | Medium |
| Blood | 22.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.1 | High expression |
| HeLa | 18.3 | Moderate |
| HepG2 | 12.7 | Low |
| Jurkat | 30.2 | High expression |
| THP-1 | 28.4 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.251C>T (p.Pro84Leu) | Missense | 0.01% (gnomAD) | Unknown; may affect protein stability |
| c.412G>A (p.Val138Met) | Missense | 0.005% | Unknown; potential impact on membrane interaction |
| c.589_590del (p.Leu197fs) | Frameshift | Rare | Predicted loss-of-function; may impair membrane rupture activity |
Mutation functional classification
Loss of Function (LOF)
Frameshift and truncating mutations are predicted to cause loss of function, impairing NINJ1's ability to mediate plasma membrane rupture, which may reduce inflammatory damage but could also compromise host defense.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression of wild-type NINJ1 can enhance membrane rupture.
Dominant Negative (DN)
Certain missense mutations might act in a dominant-negative manner by interfering with NINJ1 oligomerization, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane | • integral component of membrane |
| • cell death | • necroptosis |
| • regulation of inflammatory response | • membrane disruption |
Pathways
• Necroptosis signaling
• Pyroptosis
• TNF-induced cell death
• Ischemia-reperfusion injury pathway
Protein Summary
NINJ1 is a 152-amino acid type II membrane protein with a single transmembrane domain. It localizes to the plasma membrane and forms oligomers that are essential for membrane rupture during lytic cell death. Upon activation by upstream death signals (e.g., TNF, NLRP3 inflammasome), NINJ1 oligomerizes and disrupts the lipid bilayer, leading to cell lysis and DAMP release. Its expression is tightly regulated and induced by stress signals. Structurally, it contains an extracellular domain that is critical for membrane disruption, and its activity is regulated by post-translational modifications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NINJ1 Knockout HeLa Cell Line | EDJ-KQ26 | Human | 4814 | Details Get a Quote |
| NINJ1 Knockout IPI-2I Cell Line | EDJ-KQ70 | Porcine | 110260095 | Details Get a Quote |
| NINJ1 Knockout HEK293 Cell Line | EDJ-KQ1122 | Human | 4814 | Details Get a Quote |
| NINJ1 Knockout A-549 Cell Line | EDJ-KQ20312 | Human | 4814 | Details Get a Quote |
| NINJ1 Knockout HCT 116 Cell Line | EDJ-KQ20313 | Human | 4814 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
