FBXO39: F-Box Protein 39
A testis-specific F-box protein with potential roles in spermatogenesis and cancer
Gene Information Card
| Symbol | FBXO39 |
|---|---|
| Full Name | F-box protein 39 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 162517 ncbi.nlm.nih.gov/gene/162517 |
| Ensembl ID | ENSG00000173930 |
| UniProt ID | Q8N3Y3 |
| OMIM ID | 609111 |
| HGNC ID | 28957 |
| Aliases | F-box only protein 39, FBX39 |
Description
FBXO39 encodes a member of the F-box protein family, characterized by an F-box domain. F-box proteins are components of the Skp1-Cul1-F-box (SCF) ubiquitin ligase complex, which mediates ubiquitination and subsequent proteasomal degradation of target proteins. FBXO39 is predominantly expressed in the testis and is thought to play a role in spermatogenesis. Altered expression has been observed in certain cancers, suggesting a potential role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | FBXO39 may be involved in ubiquitin-mediated protein degradation during spermatogenesis; loss of function could impair germ cell development. | Limited; expression data from testis and homology to other F-box proteins. |
| Cancer (various) | FBXO39 expression is dysregulated in some cancers, potentially affecting cell cycle or apoptosis via altered ubiquitination. | Expression profiling studies; no direct causal evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 8.2 | Testis-derived cell line |
| HeLa (cervical carcinoma) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Predicted for variants that disrupt the F-box domain or protein stability, but no confirmed examples.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • protein ubiquitination (GO:0016567) | • nucleus (GO:0005634) |
Pathways
• SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (Reactome R-HSA-983168)
Protein Summary
FBXO39 is a 389-amino acid protein containing an N-terminal F-box domain (residues 38-85) and a C-terminal domain of unknown function. It is predicted to assemble into SCF ubiquitin ligase complexes, targeting specific substrates for degradation. Expression is largely restricted to testis, suggesting a specialized role in male germ cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO39 Knockout HEK293 Cell Line | EDJ-KQ13461 | Human | 162517 | Details Get a Quote |
| FBXO39 Knockout HeLa Cell Line | EDJ-KQ58841 | Human | 162517 | Details Get a Quote |
| FBXO39 Knockout A-549 Cell Line | EDJ-KQ67329 | Human | 162517 | Details Get a Quote |
| FBXO39 Knockout HCT 116 Cell Line | EDJ-KQ75724 | Human | 162517 | Details Get a Quote |
