FBXO34: F-Box Protein 34 – A Component of the SCF Ubiquitin Ligase Complex
Comprehensive genomic and proteomic analysis of FBXO34, a substrate recognition subunit in ubiquitin-mediated proteolysis.
Gene Information Card
| Symbol | FBXO34 |
|---|---|
| Full Name | F-box protein 34 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q22.3 |
| NCBI Gene ID | 55030 ncbi.nlm.nih.gov/gene/55030 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9NWN3 |
| OMIM ID | 609104 |
| HGNC ID | 18579 |
| Aliases | FBX34, F-box only protein 34 |
Description
FBXO34 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. FBXO34 acts as the substrate recognition subunit, binding specific substrates for ubiquitination. It is involved in cell cycle regulation, signal transduction, and protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | FBXO34 mutations may alter substrate recognition, leading to dysregulated degradation of oncoproteins or tumor suppressors. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodevelopmental disorders | Rare variants in FBXO34 have been associated with intellectual disability and developmental delay. | ClinVar lists pathogenic/likely pathogenic variants in patients with neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cell line |
| HeLa | 7.8 | Cervical cancer cell line |
| K562 | 6.5 | Leukemia cell line |
| A549 | 5.9 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Alters substrate binding; reported in COSMIC for colorectal cancer. |
| c.1234delG (p.Val412fs) | Frameshift | <0.01% | Loss of function; associated with neurodevelopmental disorder in ClinVar. |
| c.788A>G (p.Asn263Ser) | Missense | <0.05% | Unknown significance; found in breast cancer samples. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the F-box domain lead to loss of ubiquitin ligase activity.
Gain of Function (GOF)
Missense mutations that enhance substrate affinity or alter specificity may result in gain-of-function, though not well characterized.
Dominant Negative (DN)
Mutations that retain F-box but lose substrate binding could compete with wild-type FBXO34 for SCF complex assembly, acting as dominant negatives.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ubiquitin-protein transferase activity (GO:0004842) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146) |
| • nucleus (GO:0005634) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• SCF complex assembly (Reactome: R-HSA-8951664)
Protein Summary
FBXO34 is a 422-amino acid protein containing an N-terminal F-box domain (residues 30–75) that mediates interaction with SKP1, and C-terminal leucine-rich repeats (LRRs) that are involved in substrate recognition. It is localized predominantly in the nucleus and cytoplasm. The protein is expressed at moderate levels in testis and at lower levels in other tissues. Post-translational modifications include phosphorylation, which may regulate its stability and substrate binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO34 Knockout HEK293 Cell Line | EDJ-KQ12704 | Human | 55030 | Details Get a Quote |
| FBXO34 Knockout A-549 Cell Line | EDJ-KQ43038 | Human | 55030 | Details Get a Quote |
| FBXO34 Knockout HCT 116 Cell Line | EDJ-KQ43040 | Human | 55030 | Details Get a Quote |
| FBXO34 Knockout HeLa Cell Line | EDJ-KQ43041 | Human | 55030 | Details Get a Quote |
