FBXW5
F-box and WD repeat domain containing 5
Gene Information Card
| Symbol | FBXW5 |
|---|---|
| Full Name | F-box and WD repeat domain containing 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 54461 ncbi.nlm.nih.gov/gene/54461 |
| Ensembl ID | ENSG00000106992 |
| UniProt ID | Q969U6 |
| OMIM ID | 609072 |
| HGNC ID | 13610 |
| Aliases | FBW5, Fbw5, F-box/WD repeat-containing protein 5 |
Description
FBXW5 encodes a member of the F-box protein family, characterized by an F-box motif and WD40 repeats. It functions as a substrate recognition component of the SCF (SKP1-CUL1-F-box) E3 ubiquitin ligase complex, targeting proteins such as TSC1 and DEPTOR for ubiquitination and proteasomal degradation, thereby regulating mTOR signaling and cell growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | FBXW5 overexpression or mutation may alter mTOR pathway regulation, promoting tumorigenesis | PMID: 23431137 |
| Lung cancer | FBXW5 downregulation linked to increased DEPTOR levels and mTOR activation | PMID: 23431137 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| A549 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Unknown functional impact |
| c.1246G>A (p.Gly416Ser) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential loss of substrate ubiquitination leading to mTOR pathway activation
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin protein ligase activity | • protein ubiquitination |
| • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | • regulation of TOR signaling |
| • WD40-repeat domain binding |
Pathways
• SCF ubiquitin ligase complex
• mTOR signaling pathway
Protein Summary
FBXW5 is a 665-amino acid protein containing an N-terminal F-box domain and C-terminal WD40 repeats. It assembles into the SCF E3 ubiquitin ligase complex to recognize and ubiquitinate substrates like TSC1 and DEPTOR, thereby negatively regulating mTORC1 signaling. FBXW5 is implicated in cell cycle control and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXW5 Knockout HEK293 Cell Line | EDJ-KQ11421 | Human | 54461 | Details Get a Quote |
| FBXW5 Knockout A-549 Cell Line | EDJ-KQ39660 | Human | 54461 | Details Get a Quote |
| FBXW5 Knockout HCT 116 Cell Line | EDJ-KQ39661 | Human | 54461 | Details Get a Quote |
| FBXW5 Knockout HeLa Cell Line | EDJ-KQ39662 | Human | 54461 | Details Get a Quote |
