FBXO42: F-Box Protein 42
A component of the SCF ubiquitin ligase complex involved in protein degradation and cell cycle regulation.
Gene Information Card
| Symbol | FBXO42 |
|---|---|
| Full Name | F-Box Protein 42 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 54455 ncbi.nlm.nih.gov/gene/54455 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q6P3S6 |
| OMIM ID | 609107 |
| HGNC ID | 28997 |
| Aliases | FBX42, FLJ20291, MGC138290 |
Description
FBXO42 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. FBXO42 is involved in cell cycle progression, signal transduction, and protein turnover. Its specific substrates and biological roles are under active investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | FBXO42 mutations may alter substrate recognition or complex assembly, leading to dysregulated protein degradation and oncogenesis. | COSMIC; literature (PMID: 26619011) |
| Neurodevelopmental disorders | Rare variants in FBXO42 have been associated with intellectual disability and developmental delay, possibly via impaired ubiquitination of neuronal proteins. | ClinVar; literature (PMID: 28135719) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cells |
| HeLa | 6.5 | Cervical cancer cells |
| HepG2 | 5.2 | Liver cancer cells |
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; reported in cancer samples (COSMIC) |
| c.1243G>A (p.Glu415Lys) | Missense | <0.1% | Reported in neurodevelopmental disorder (ClinVar) |
| c.1789_1790insA (p.Thr597Asnfs*5) | Frameshift | <0.1% | Predicted loss of function; rare in population databases |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein lacking F-box or substrate-binding domains, impairing SCF complex function.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity or increase ubiquitination activity.
Dominant Negative (DN)
Missense mutations in the F-box domain may disrupt complex assembly, potentially exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• SCF complex assembly (Reactome: R-HSA-8951664)
Protein Summary
FBXO42 is a 597-amino acid protein containing an N-terminal F-box domain (required for SKP1 binding) and C-terminal leucine-rich repeats (LRRs) that mediate substrate recognition. It is a core component of the SCF ubiquitin ligase complex, targeting specific proteins for ubiquitination and degradation. The protein is widely expressed, with highest levels in testis and brain. Structural studies suggest that FBXO42 interacts with phosphorylated substrates, linking phosphorylation signals to proteolysis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO42 Knockout HEK293 Cell Line | EDJ-KQ2445 | Human | 54455 | Details Get a Quote |
| FBXO42 Knockout A-549 Cell Line | EDJ-KQ22962 | Human | 54455 | Details Get a Quote |
| FBXO42 Knockout HCT 116 Cell Line | EDJ-KQ22963 | Human | 54455 | Details Get a Quote |
| FBXO42 Knockout HeLa Cell Line | EDJ-KQ22964 | Human | 54455 | Details Get a Quote |
