PELI1 Gene - Pellino E3 Ubiquitin Protein Ligase 1
Key regulator of innate immune signaling and NF-κB activation
Gene Information Card
| Symbol | PELI1 |
|---|---|
| Full Name | Pellino E3 Ubiquitin Protein Ligase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 57162 ncbi.nlm.nih.gov/gene/57162 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q96FA3 |
| OMIM ID | 614797 |
| HGNC ID | 17680 |
| Aliases | Pellino-1, Pellino1 |
Description
PELI1 encodes Pellino 1, a member of the Pellino family of E3 ubiquitin ligases. It plays a critical role in innate immune signaling by mediating the ubiquitination of IRAK1 and other components downstream of Toll-like receptors (TLRs) and interleukin-1 receptors (IL-1Rs). This modification promotes NF-κB activation and inflammatory cytokine production. PELI1 is also involved in T-cell activation and central nervous system inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | PELI1 deficiency impairs regulatory T-cell function and promotes autoantibody production | PMID: 25282154 |
| Multiple sclerosis | PELI1 regulates microglial activation and neuroinflammation | PMID: 26950369 |
| Colorectal cancer | PELI1 overexpression correlates with poor prognosis and promotes tumor growth via NF-κB | PMID: 29187739 |
| Glioma | PELI1 enhances tumor cell proliferation and invasion through IRAK1 ubiquitination | PMID: 31409887 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 28.5 | High |
| Spleen | 22.3 | High |
| Bone marrow | 18.7 | High |
| Brain | 6.2 | Low |
| Liver | 4.1 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 35.2 | High expression; induced by LPS |
| Jurkat (T-cell) | 20.1 | Moderate expression |
| HEK293 (embryonic kidney) | 8.5 | Low baseline expression |
| HeLa (cervical cancer) | 12.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | Rare | Unknown functional effect |
| c.1246G>A (p.Glu416Lys) | Missense | Rare | Potential loss of ubiquitin ligase activity |
Mutation functional classification
Loss of Function (LOF)
p.Glu416Lys may reduce E3 ligase activity and impair NF-κB signaling
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • E3 ubiquitin ligase activity | • Protein ubiquitination |
| • NF-κB signaling | • Innate immune response |
| • Toll-like receptor signaling pathway | • Interleukin-1 receptor signaling pathway |
Pathways
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• IL-1 signaling pathway
• NF-κB signaling pathway
• IRAK1-mediated signaling
Protein Summary
Pellino 1 is a 417-amino acid E3 ubiquitin ligase containing a RING-like domain. It interacts with IRAK1 and TRAF6 to catalyze K63-linked polyubiquitination, leading to activation of the IKK complex and NF-κB. The protein is predominantly expressed in immune tissues and is induced by inflammatory stimuli. PELI1 also modulates T-cell receptor signaling and microglial function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PELI1 Knockout HEK293 Cell Line | EDJ-KQ14727 | Human | 57162 | Details Get a Quote |
| PELI1 Knockout HCT 116 Cell Line | EDJ-KQ43845 | Human | 57162 | Details Get a Quote |
| PELI1 Knockout A-549 Cell Line | EDJ-KQ45065 | Human | 57162 | Details Get a Quote |
| PELI1 Knockout HeLa Cell Line | EDJ-KQ45067 | Human | 57162 | Details Get a Quote |
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