FBXO24: F-Box Protein 24
A substrate recognition component of the SCF ubiquitin ligase complex involved in cell cycle regulation and spermatogenesis.
Gene Information Card
| Symbol | FBXO24 |
|---|---|
| Full Name | F-Box Protein 24 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 26261 ncbi.nlm.nih.gov/gene/26261 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | Q9UKT7 |
| OMIM ID | 609093 |
| HGNC ID | 13597 |
| Aliases | FBX24, F-box only protein 24 |
Description
FBXO24 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. FBXO24 is involved in cell cycle progression, particularly during mitosis, and plays a role in spermatogenesis. It may also function in the regulation of centrosome duplication and chromosome segregation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ubiquitin-mediated proteolysis; altered cell cycle control | COSMIC database reports somatic mutations in multiple cancer types |
| Male infertility | Impaired spermatogenesis due to FBXO24 dysfunction | OMIM 609093; inferred from functional studies in model organisms |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 8.1 | Low |
| Bone marrow | 6.5 | Low |
| Spleen | 5.9 | Low |
| Brain | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney; moderate expression |
| HeLa | 9.5 | Cervical carcinoma; moderate expression |
| K562 | 7.8 | Leukemia; low expression |
| A549 | 6.2 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.0004 (gnomAD) | Unknown functional effect; reported in COSMIC |
| c.1243G>A (p.Gly415Ser) | Missense | 0.0002 (gnomAD) | Unknown functional effect; reported in COSMIC |
| c.1462_1463del (p.Leu488fs) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, likely impairing SCF complex assembly and substrate ubiquitination.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SCF ubiquitin ligase complex (Reactome: R-HSA-8951664)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
FBXO24 is a 488-amino acid protein containing an N-terminal F-box domain (residues 30-75) and a C-terminal domain of unknown function. It interacts with SKP1 and CUL1 to form an active SCF complex. The protein is predominantly expressed in testis and is implicated in the ubiquitination of substrates involved in cell division and male germ cell development. Structural studies suggest that the C-terminal region may mediate substrate recognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO24 Knockout HEK293 Cell Line | EDJ-KQ8490 | Human | 26261 | Details Get a Quote |
| FBXO24 Knockout HeLa Cell Line | EDJ-KQ55914 | Human | 26261 | Details Get a Quote |
| FBXO24 Knockout A-549 Cell Line | EDJ-KQ64404 | Human | 26261 | Details Get a Quote |
| FBXO24 Knockout HCT 116 Cell Line | EDJ-KQ72856 | Human | 26261 | Details Get a Quote |
