FBXO41: F-Box Protein 41
A component of the SCF ubiquitin ligase complex implicated in neurodevelopmental disorders
Gene Information Card
| Symbol | FBXO41 |
|---|---|
| Full Name | F-box protein 41 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 150726 ncbi.nlm.nih.gov/gene/150726 |
| Ensembl ID | ENSG00000162944 |
| UniProt ID | Q8TF61 |
| OMIM ID | 609108 |
| HGNC ID | 28805 |
| Aliases | FBX41, F-box only protein 41 |
Description
FBXO41 encodes a member of the F-box protein family, which functions as a substrate recognition component of the SCF (SKP1-CUL1-F-box) E3 ubiquitin ligase complex. This complex mediates ubiquitination and subsequent proteasomal degradation of target proteins. FBXO41 is highly expressed in the brain and is involved in neuronal development and synaptic function. Mutations in FBXO41 have been associated with neurodevelopmental disorders, including intellectual disability and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability | Loss-of-function mutations impair ubiquitin-mediated degradation of neuronal substrates, disrupting synaptic plasticity and neuronal maturation. | ClinVar; PMID: 29304370 |
| Epileptic encephalopathy | De novo missense variants alter substrate binding or complex assembly, leading to aberrant neuronal excitability. | ClinVar; PMID: 27545674 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 10.2 | Medium |
| Testis | 8.1 | Low |
| Heart | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HEK293 (embryonic kidney) | 6.7 | Low expression |
| U-87 MG (glioblastoma) | 11.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | <0.01% | Loss of function; premature truncation |
| c.1247G>A (p.Arg416His) | Missense | <0.01% | Altered substrate binding; likely pathogenic |
| c.1456_1457del (p.Leu486fs) | Frameshift | <0.01% | Loss of function; protein truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated, non-functional protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported for FBXO41.
Dominant Negative (DN)
Missense variants may interfere with SCF complex assembly, reducing overall ubiquitin ligase activity.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• SCF complex assembly (Reactome: R-HSA-8951664)
Protein Summary
FBXO41 is a 665-amino acid protein containing an N-terminal F-box domain (required for SKP1 interaction) and C-terminal substrate-binding domains. It is localized to the cytoplasm and nucleus. The protein is part of the SCF ubiquitin ligase complex, targeting specific substrates for degradation. In neurons, FBXO41 regulates synaptic protein turnover and is critical for proper brain development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO41 Knockout HEK293 Cell Line | EDJ-KQ11310 | Human | 150726 | Details Get a Quote |
| FBXO41 Knockout A-549 Cell Line | EDJ-KQ39444 | Human | 150726 | Details Get a Quote |
| FBXO41 Knockout HCT 116 Cell Line | EDJ-KQ39445 | Human | 150726 | Details Get a Quote |
| FBXO41 Knockout HeLa Cell Line | EDJ-KQ39446 | Human | 150726 | Details Get a Quote |
