TRIM40 Gene - Tripartite Motif Containing 40
Comprehensive genomic and proteomic analysis of TRIM40, a RING-finger E3 ubiquitin ligase involved in immune regulation and cancer.
Gene Information Card
| Symbol | TRIM40 |
|---|---|
| Full Name | Tripartite Motif Containing 40 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 135644 ncbi.nlm.nih.gov/gene/135644 |
| Ensembl ID | ENSG00000188820 |
| UniProt ID | Q6P9F5 |
| OMIM ID | 615713 |
| HGNC ID | 18762 |
| Aliases | RNF35 |
Description
TRIM40 (tripartite motif containing 40) is a protein-coding gene that encodes a member of the tripartite motif (TRIM) family. The protein contains a RING finger domain, a B-box, and a coiled-coil region, characteristic of TRIM proteins. TRIM40 functions as an E3 ubiquitin ligase and is involved in the regulation of immune responses, particularly through ubiquitination and degradation of target proteins such as MAVS (mitochondrial antiviral signaling protein). It is also implicated in the negative regulation of antiviral innate immune signaling and has been associated with certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | TRIM40 overexpression may promote tumor growth through modulation of NF-κB signaling. | PMID: 31289472 |
| Hepatocellular Carcinoma | TRIM40 is upregulated and associated with poor prognosis; may regulate cell proliferation. | PMID: 32107363 |
| Innate Immune Deficiency | TRIM40 negatively regulates RIG-I-like receptor signaling by ubiquitinating MAVS. | PMID: 28202729 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 3.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.2 | Embryonic kidney cells |
| HepG2 | 7.8 | Hepatocellular carcinoma |
| A549 | 4.1 | Lung carcinoma |
| K562 | 2.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.458G>A (p.Arg153Gln) | Missense | 0.01% (gnomAD) | May affect protein stability |
| c.1A>G (p.Met1?) | Start loss | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1?) are predicted to abolish protein translation, leading to loss of E3 ligase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or databases.
Dominant Negative (DN)
No dominant-negative mutations described for TRIM40.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RIG-I-like receptor signaling pathway (Reactome: R-HSA-168928)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
• Innate Immune System (Reactome: R-HSA-168249)
Protein Summary
TRIM40 is a 531-amino acid protein with a molecular weight of approximately 60 kDa. It contains a RING-type zinc finger domain (residues 15-55) responsible for E3 ubiquitin ligase activity, a B-box-type zinc finger (residues 95-138), and a coiled-coil region (residues 145-200). The protein localizes to the cytoplasm and is involved in ubiquitination of MAVS, leading to attenuation of antiviral signaling. TRIM40 is also implicated in cancer cell proliferation and immune evasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIM40 Knockout HEK293 Cell Line | EDJ-KQ9364 | Human | 135644 | Details Get a Quote |
| TRIM40 Knockout HeLa Cell Line | EDJ-KQ58351 | Human | 135644 | Details Get a Quote |
| TRIM40 Knockout A-549 Cell Line | EDJ-KQ66839 | Human | 135644 | Details Get a Quote |
| TRIM40 Knockout HCT 116 Cell Line | EDJ-KQ75243 | Human | 135644 | Details Get a Quote |
