FBXO17: F-Box Protein 17 - Gene Overview and Biomedical Significance
Comprehensive gene card for FBXO17, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | FBXO17 |
|---|---|
| Full Name | F-box protein 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 115290 ncbi.nlm.nih.gov/gene/115290 |
| Ensembl ID | ENSG00000105679 |
| UniProt ID | Q9Y2V2 |
| OMIM ID | 609095 |
| HGNC ID | 13588 |
| Aliases | FBX17, FBXO17A, F-box only protein 17 |
Description
FBXO17 (F-box protein 17) is a protein-coding gene located on chromosome 19q13.42. It encodes a member of the F-box protein family, which are components of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex. FBXO17 functions as the substrate-recognition subunit, targeting specific proteins for ubiquitination and subsequent proteasomal degradation. It is involved in various cellular processes including cell cycle regulation, signal transduction, and apoptosis. FBXO17 has been implicated in several cancers and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | FBXO17 overexpression promotes tumor growth via ubiquitination and degradation of tumor suppressors | PMID: 31239362 |
| Colorectal cancer | FBXO17 upregulation correlates with poor prognosis and may regulate β-catenin signaling | PMID: 32015555 |
| Gastric cancer | FBXO17 expression is elevated and associated with metastasis | PMID: 30131763 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Spleen | 7.1 | Low |
| Bone marrow | 6.8 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| K562 | 10.1 | Chronic myeloid leukemia cell line |
| A549 | 8.7 | Lung carcinoma cell line |
| MCF7 | 6.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1243G>A (p.Gly415Ser) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1462_1463insA (p.Thr488AsnfsTer5) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr488AsnfsTer5) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• SCF complex assembly (Reactome: R-HSA-8951664)
Protein Summary
FBXO17 encodes a 488-amino acid F-box protein containing an N-terminal F-box domain and a C-terminal substrate-binding domain. It is a component of the SCF ubiquitin ligase complex, where it recruits specific substrates for ubiquitination. The protein is predominantly cytoplasmic and is expressed in multiple tissues, with highest levels in testis. FBXO17 is implicated in the degradation of proteins involved in cell cycle control and oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO17 Knockout HEK293 Cell Line | EDJ-KQ7515 | Human | 115290 | Details Get a Quote |
| FBXO17 Knockout A-549 Cell Line | EDJ-KQ32789 | Human | 115290 | Details Get a Quote |
| FBXO17 Knockout HCT 116 Cell Line | EDJ-KQ32790 | Human | 115290 | Details Get a Quote |
| FBXO17 Knockout HeLa Cell Line | EDJ-KQ32791 | Human | 115290 | Details Get a Quote |
