WDFY1: WD Repeat and FYVE Domain Containing 1
A key regulator of autophagy and innate immune signaling
Gene Information Card
| Symbol | WDFY1 |
|---|---|
| Full Name | WD Repeat and FYVE Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q36.1 |
| NCBI Gene ID | 57590 ncbi.nlm.nih.gov/gene/57590 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q8IWB7 |
| OMIM ID | 617511 |
| HGNC ID | 20451 |
| Aliases | FENS-1, KIAA1435, ZFYVE17 |
Description
WDFY1 encodes a protein containing WD40 repeats and a FYVE zinc finger domain. It functions as an adaptor in Toll-like receptor (TLR) signaling pathways and plays a critical role in autophagy by facilitating the recruitment of LC3 to phagophores. The protein is involved in innate immune responses and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Altered TLR signaling via WDFY1 dysregulation | GWAS association (PMID: 24097068) |
| Autoinflammatory disorders | Impaired autophagy and immune complex clearance | Functional studies (PMID: 25609812) |
| Cancer (various) | Dysregulated autophagy affecting tumor suppression | Expression profiling (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Liver | 8.5 | Low |
| Kidney | 11.3 | Medium |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 14.2 | Moderate expression |
| K562 | 9.8 | Low expression |
| HepG2 | 11.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Trp) | Missense | <0.01% | Reduced protein stability (ClinVar) |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Altered FYVE domain function (ClinVar) |
| c.789_790insA | Frameshift | <0.01% | Loss of function (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants lead to truncated protein and impaired autophagy.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants in FYVE domain may interfere with phosphoinositide binding.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • endosome to lysosome transport |
| • protein binding | • zinc ion binding |
| • phosphatidylinositol-3-phosphate binding | • innate immune response |
| • Toll-like receptor signaling pathway |
Pathways
• Autophagy (KEGG hsa04140)
• Toll-like receptor signaling (KEGG hsa04620)
• Selective autophagy (Reactome R-HSA-9663891)
Protein Summary
The WDFY1 protein (UniProt Q8IWB7) is 411 amino acids long and contains an N-terminal WD40 repeat domain and a C-terminal FYVE zinc finger. It localizes to early endosomes and autophagosomal membranes, where it binds phosphatidylinositol-3-phosphate. WDFY1 acts as a scaffold for the autophagy machinery and positively regulates TLR3 and TLR4 signaling by recruiting TICAM1/TRIF.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDFY1 Knockout HEK293 Cell Line | EDJ-KQ15347 | Human | 57590 | Details Get a Quote |
| WDFY1 Knockout A-549 Cell Line | EDJ-KQ47302 | Human | 57590 | Details Get a Quote |
| WDFY1 Knockout HCT 116 Cell Line | EDJ-KQ47304 | Human | 57590 | Details Get a Quote |
| WDFY1 Knockout HeLa Cell Line | EDJ-KQ47305 | Human | 57590 | Details Get a Quote |
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