FBXO30: F-box Protein 30
A substrate recognition component of the SCF ubiquitin ligase complex involved in protein ubiquitination and degradation.
Gene Information Card
| Symbol | FBXO30 |
|---|---|
| Full Name | F-box protein 30 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.3 |
| NCBI Gene ID | 84085 ncbi.nlm.nih.gov/gene/84085 |
| Ensembl ID | ENSG00000118496 |
| UniProt ID | Q8TB52 |
| OMIM ID | 609101 |
| HGNC ID | 18582 |
| Aliases | FBX30, F-box only protein 30 |
Description
FBXO30 encodes a member of the F-box protein family, which are characterized by an F-box motif. F-box proteins constitute one of the four subunits of the SCF (SKP1-cullin-F-box) ubiquitin ligase complex. FBXO30 functions as the substrate recognition component, recruiting specific proteins for ubiquitination and subsequent proteasomal degradation. It plays a role in various cellular processes including cell cycle regulation, signal transduction, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of ubiquitin-proteasome pathway; altered substrate degradation | COSMIC somatic mutation data |
| Not specified in major databases | Insufficient evidence for specific disease association | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| K562 | 6.8 | Leukemia cells |
| A549 | 5.9 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature stop; likely loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Premature stop; likely loss of function |
| c.890A>G (p.Glu297Gly) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to cause loss of function due to truncated protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations in FBXO30.
Dominant Negative (DN)
No evidence for dominant-negative mutations in FBXO30.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (Reactome: R-HSA-983168)
Protein Summary
FBXO30 is a 412-amino acid F-box protein that contains an N-terminal F-box domain (residues 38-81) and a C-terminal domain involved in substrate binding. It is a component of the SCF ubiquitin ligase complex, where it recruits specific substrates for ubiquitination. The protein is expressed in multiple tissues, with highest levels in testis. Its precise substrates and biological functions remain partially characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO30 Knockout HEK293 Cell Line | EDJ-KQ9978 | Human | 84085 | Details Get a Quote |
| FBXO30 Knockout A-549 Cell Line | EDJ-KQ36919 | Human | 84085 | Details Get a Quote |
| FBXO30 Knockout HeLa Cell Line | EDJ-KQ36921 | Human | 84085 | Details Get a Quote |
| FBXO30 Knockout HCT 116 Cell Line | EDJ-KQ35716 | Human | 84085 | Details Get a Quote |
