TRAFD1 Gene - TRAF-Type Zinc Finger Domain Containing 1
Key regulator of innate immune signaling and cellular stress responses
Gene Information Card
| Symbol | TRAFD1 |
|---|---|
| Full Name | TRAF-Type Zinc Finger Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.13 |
| NCBI Gene ID | 10906 ncbi.nlm.nih.gov/gene/10906 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | O14545 |
| OMIM ID | 610569 |
| HGNC ID | 24836 |
| Aliases | FLN29, ZNF744 |
Description
TRAFD1 (TRAF-type zinc finger domain containing 1) encodes a protein that functions as a negative regulator of Toll-like receptor (TLR) and RIG-I-like receptor (RLR) signaling pathways. It interacts with TRAF proteins and inhibits NF-kappaB and IRF activation, thereby modulating innate immune responses and interferon production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Dysregulation of TRAFD1 expression may alter TLR signaling and interferon production, contributing to autoimmune pathology. | PMID: 25605274 |
| Influenza A infection | TRAFD1 restricts influenza A virus replication by inhibiting RIG-I signaling. | PMID: 21957124 |
| Breast cancer | Altered TRAFD1 expression correlates with poor prognosis; potential role in tumor immune evasion. | PMID: 30397376 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 8.2 | Medium |
| Bone marrow | 6.1 | Low |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 9.5 | Medium expression |
| K562 | 7.8 | Medium expression |
| A549 | 6.2 | Low expression |
| HepG2 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.452A>G (p.Asn151Ser) | Missense | <0.01% | Unknown functional impact |
| c.784G>A (p.Gly262Arg) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • metal ion binding (GO:0046872) |
| • negative regulation of NF-kappaB transcription factor activity (GO:0032088) | • regulation of type I interferon production (GO:0032479) |
| • innate immune response (GO:0045087) |
Pathways
• RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways (Reactome: R-HSA-168928)
• TRAF6 mediated NF-kappaB activation (Reactome: R-HSA-933542)
• Toll-like receptor signaling pathway (KEGG: hsa04620)
Protein Summary
TRAFD1 is a 541-amino acid protein containing a TRAF-type zinc finger domain and a C-terminal coiled-coil region. It localizes to the cytoplasm and acts as a negative feedback regulator of innate immune signaling by interacting with TRAF3 and TRAF6, leading to inhibition of IRF3 and NF-kappaB activation. The protein also modulates antiviral responses and is implicated in autoimmune and neoplastic processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAFD1 Knockout HEK293 Cell Line | EDJ-KQ3319 | Human | 10906 | Details Get a Quote |
| TRAFD1 Knockout A-549 Cell Line | EDJ-KQ24924 | Human | 10906 | Details Get a Quote |
| TRAFD1 Knockout HCT 116 Cell Line | EDJ-KQ24925 | Human | 10906 | Details Get a Quote |
| TRAFD1 Knockout HeLa Cell Line | EDJ-KQ24926 | Human | 10906 | Details Get a Quote |
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