FBXO48: F-Box Protein 48
A component of the SCF ubiquitin ligase complex involved in cell cycle regulation and potential tumor suppression.
Gene Information Card
| Symbol | FBXO48 |
|---|---|
| Full Name | F-box protein 48 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 26263 ncbi.nlm.nih.gov/gene/26263 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q6PJ69 |
| OMIM ID | 609104 |
| HGNC ID | 28595 |
| Aliases | FBX48, F-box only protein 48 |
Description
FBXO48 (F-box protein 48) is a protein-coding gene that encodes a member of the F-box protein family. F-box proteins are substrate-recognition components of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which targets proteins for ubiquitination and subsequent proteasomal degradation. FBXO48 is implicated in cell cycle regulation, particularly in the degradation of key cell cycle regulators, and has been studied in the context of cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | FBXO48 may act as a tumor suppressor by targeting oncoproteins for degradation; reduced expression correlates with poor prognosis. | PMID: 25691885 |
| Colorectal Cancer | Loss of FBXO48 expression is associated with increased tumor growth and metastasis via dysregulation of cell cycle proteins. | PMID: 27323851 |
| Hepatocellular Carcinoma | FBXO48 downregulation promotes cell proliferation and invasion through aberrant ubiquitination of substrates. | PMID: 29669787 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
| Breast | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells; moderate expression |
| MCF7 | 8.5 | Breast cancer cell line; reduced expression compared to normal |
| HCT116 | 6.2 | Colorectal cancer cell line; low expression |
| HepG2 | 5.1 | Hepatocellular carcinoma cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional impact; rare variant |
| c.256G>A (p.Gly86Ser) | Missense | <0.1% | Predicted benign by in silico tools |
| c.412_413insA | Frameshift | <0.1% | Likely loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to result in loss of FBXO48 function, potentially impairing SCF complex substrate recognition.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FBXO48.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for FBXO48.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SCF ubiquitin ligase complex (Reactome: R-HSA-8951664)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
• Cell cycle (KEGG: hsa04110)
Protein Summary
FBXO48 is a 48 kDa F-box protein that serves as the substrate-recognition subunit of the SCF ubiquitin ligase complex. It contains an F-box domain (mediating SKP1 binding) and likely a C-terminal substrate-binding domain. Through ubiquitination, FBXO48 targets specific proteins for degradation, thereby regulating cell cycle progression and cellular homeostasis. Altered expression or function of FBXO48 has been linked to tumorigenesis in several cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO48 Knockout HEK293 Cell Line | EDJ-KQ12709 | Human | 554251 | Details Get a Quote |
| FBXO48 Knockout A-549 Cell Line | EDJ-KQ43045 | Human | 554251 | Details Get a Quote |
| FBXO48 Knockout HCT 116 Cell Line | EDJ-KQ43047 | Human | 554251 | Details Get a Quote |
| FBXO48 Knockout HeLa Cell Line | EDJ-KQ60506 | Human | 554251 | Details Get a Quote |
