FBXO33: F-Box Protein 33
A substrate recognition component of the SCF ubiquitin ligase complex involved in protein ubiquitination and degradation.
Gene Information Card
| Symbol | FBXO33 |
|---|---|
| Full Name | F-Box Protein 33 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q21.1 |
| NCBI Gene ID | 254170 ncbi.nlm.nih.gov/gene/254170 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q7Z6M2 |
| OMIM ID | 609101 |
| HGNC ID | 18579 |
| Aliases | FBX33, F-box only protein 33 |
Description
FBXO33 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. FBXO33 acts as the substrate recognition subunit, binding specific proteins for ubiquitination. It is involved in various cellular processes including cell cycle regulation, signal transduction, and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | FBXO33 mutations may alter substrate recognition, leading to dysregulated protein degradation and oncogenesis. | COSMIC database reports somatic mutations in various cancers. |
| Colorectal cancer | FBXO33 mutations found in colorectal tumors; potential role in tumor suppression. | COSMIC; limited functional studies. |
| Lung cancer | Somatic mutations in FBXO33 identified in lung adenocarcinoma samples. | COSMIC. |
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 |
|---|---|---|
| HEK 293 | 10.0 | Embryonic kidney cells; moderate expression |
| HeLa | 7.5 | Cervical cancer cells; low expression |
| A549 | 6.8 | Lung cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Unknown; predicted possibly damaging |
| c.1246G>A (p.Gly416Ser) | Missense | <0.1% | Unknown; predicted benign |
| c.1570_1571insA | Frameshift | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1570_1571insA) likely result in truncated protein and loss of substrate recognition.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • protein ubiquitination (GO:0016567) | • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146) |
| • proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• SCF complex assembly
Protein Summary
FBXO33 is a 569-amino acid protein containing an N-terminal F-box domain (residues 46-89) that mediates interaction with SKP1, and C-terminal substrate-binding domains. It functions as the substrate recognition component of the SCF ubiquitin ligase complex, targeting specific proteins for ubiquitination and degradation. The protein is expressed in multiple tissues, with highest levels in testis. Structural studies are limited; no crystal structure is currently available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO33 Knockout HEK293 Cell Line | EDJ-KQ11756 | Human | 254170 | Details Get a Quote |
| FBXO33 Knockout A-549 Cell Line | EDJ-KQ40147 | Human | 254170 | Details Get a Quote |
| FBXO33 Knockout HCT 116 Cell Line | EDJ-KQ40148 | Human | 254170 | Details Get a Quote |
| FBXO33 Knockout HeLa Cell Line | EDJ-KQ40149 | Human | 254170 | Details Get a Quote |
