FBXL17: F-Box and Leucine Rich Repeat Protein 17
Substrate Recognition Component of SCF Ubiquitin Ligase Complex
Gene Information Card
| Symbol | FBXL17 |
|---|---|
| Full Name | F-Box and Leucine Rich Repeat Protein 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q21.1 |
| NCBI Gene ID | 64839 ncbi.nlm.nih.gov/gene/64839 |
| Ensembl ID | ENSG00000145782 |
| UniProt ID | Q9H9S0 |
| OMIM ID | 609094 |
| HGNC ID | 13609 |
| Aliases | FBL17, FBX17, FBXL17A, FBXL17B |
Description
FBXL17 encodes a member of the F-box protein family, characterized by an F-box domain and leucine-rich repeats (LRRs). As a component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, FBXL17 functions as the substrate recognition subunit, targeting specific proteins for ubiquitination and subsequent proteasomal degradation. It plays roles in cell cycle regulation, signal transduction, and protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | FBXL17 mutations or altered expression may disrupt substrate degradation, affecting oncogenic pathways. | COSMIC; literature reports |
| Developmental disorders | Potential role in ubiquitin-mediated signaling during development. | OMIM; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Medium |
| Brain (cerebellum) | 6.1 | Low |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney |
| HeLa | 7.5 | Cervical carcinoma |
| K562 | 6.8 | Leukemia |
| A549 | 5.9 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | <0.1% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• SCF complex assembly (Reactome: R-HSA-8951664)
Protein Summary
FBXL17 is a 538-amino acid protein containing an N-terminal F-box domain (residues 40-80) and C-terminal leucine-rich repeats (LRRs) that mediate substrate recognition. It assembles into the SCF ubiquitin ligase complex via SKP1 binding to the F-box domain. The LRR domain binds specific substrates, targeting them for ubiquitination and degradation. FBXL17 is implicated in regulating cell cycle progression and signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXL17 Knockout HEK293 Cell Line | EDJ-KQ13458 | Human | 64839 | Details Get a Quote |
| FBXL17 Knockout A-549 Cell Line | EDJ-KQ43033 | Human | 64839 | Details Get a Quote |
| FBXL17 Knockout HCT 116 Cell Line | EDJ-KQ43034 | Human | 64839 | Details Get a Quote |
| FBXL17 Knockout HeLa Cell Line | EDJ-KQ43035 | Human | 64839 | Details Get a Quote |
