FBXO46: F-Box Protein 46
A substrate recognition component of the SCF ubiquitin ligase complex involved in protein ubiquitination and degradation.
Gene Information Card
| Symbol | FBXO46 |
|---|---|
| Full Name | F-Box Protein 46 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 100130449 ncbi.nlm.nih.gov/gene/100130449 |
| Ensembl ID | ENSG00000205571 |
| UniProt ID | Q6PJ67 |
| OMIM ID | Not assigned |
| HGNC ID | 33889 |
| Aliases | FBX46, F-box only protein 46 |
Description
FBXO46 encodes a member of the F-box protein family, characterized by an F-box domain. F-box proteins are components of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates ubiquitination and subsequent proteasomal degradation of target proteins. FBXO46 likely functions as a substrate recognition subunit, targeting specific proteins for degradation and thereby regulating various cellular processes including cell cycle, signal transduction, and transcription.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | FBXO46 may regulate degradation of oncoproteins or tumor suppressors; altered expression could disrupt proteostasis. | Limited evidence from expression studies; no direct disease association in ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.0 | Embryonic kidney cells |
| HeLa | 2.5 | Cervical cancer cells |
| K562 | 1.9 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Predicted to affect start codon; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (Reactome: R-HSA-983168)
Protein Summary
FBXO46 is a 422-amino acid protein containing an F-box domain (residues 35-80) and a C-terminal domain of unknown function. It is predicted to localize to the cytoplasm and nucleus. As part of the SCF complex, FBXO46 recruits substrates for ubiquitination, but its specific targets remain largely uncharacterized. Expression is low across most tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO46 Knockout HEK293 Cell Line | EDJ-KQ13462 | Human | 23403 | Details Get a Quote |
| FBXO46 Knockout A-549 Cell Line | EDJ-KQ43042 | Human | 23403 | Details Get a Quote |
| FBXO46 Knockout HCT 116 Cell Line | EDJ-KQ43043 | Human | 23403 | Details Get a Quote |
| FBXO46 Knockout HeLa Cell Line | EDJ-KQ43044 | Human | 23403 | Details Get a Quote |
