FBXL20: F-box and Leucine Rich Repeat Protein 20
A substrate recognition component of the SCF ubiquitin ligase complex involved in cell cycle regulation and cancer.
Gene Information Card
| Symbol | FBXL20 |
|---|---|
| Full Name | F-box and leucine rich repeat protein 20 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 84961 ncbi.nlm.nih.gov/gene/84961 |
| Ensembl ID | ENSG00000108848 |
| UniProt ID | Q96IG2 |
| OMIM ID | 609090 |
| HGNC ID | 13600 |
| Aliases | FBL2, FBL20, FBXL2, FLJ12976 |
Description
FBXL20 encodes a member of the F-box protein family, characterized by an F-box domain and leucine-rich repeats. This protein is a component of the SCF (SKP1-CUL1-F-box) ubiquitin ligase complex, which targets specific substrates for ubiquitination and subsequent proteasomal degradation. FBXL20 is involved in cell cycle progression, apoptosis, and has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | FBXL20 overexpression promotes ubiquitination and degradation of tumor suppressors, enhancing cell proliferation. | COSMIC, PubMed |
| Gastric cancer | FBXL20 upregulation correlates with poor prognosis and increased metastasis via Wnt/β-catenin pathway activation. | PubMed |
| Hepatocellular carcinoma | FBXL20 silencing reduces cell growth and induces apoptosis through modulation of cyclin D1. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Brain | 6.1 | Low |
| Liver | 4.2 | Low |
| Colon | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 10.5 | Cervical cancer cells |
| HCT 116 | 9.8 | Colorectal carcinoma cells |
| MCF7 | 7.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
| c.1489_1490insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function by truncating the protein or inducing nonsense-mediated decay.
Gain of Function (GOF)
Missense mutations in the F-box domain may alter substrate specificity, potentially leading to oncogenic gain of function.
Dominant Negative (DN)
Mutations that disrupt F-box binding to SKP1 could produce dominant-negative effects by sequestering substrates.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SCF ubiquitin ligase complex (Reactome: R-HSA-8951664)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
• Cell cycle (KEGG: hsa04110)
Protein Summary
FBXL20 is a 440-amino acid protein containing an N-terminal F-box domain (residues 40-85) and C-terminal leucine-rich repeats (LRRs) that mediate substrate recognition. It assembles into the SCF complex via interaction with SKP1 through the F-box domain. The LRRs bind specific substrates, targeting them for ubiquitination. FBXL20 is localized in the cytoplasm and nucleus, and its expression is regulated in a cell cycle-dependent manner.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXL20 Knockout HEK293 Cell Line | EDJ-KQ10285 | Human | 84961 | Details Get a Quote |
| FBXL20 Knockout A-549 Cell Line | EDJ-KQ36293 | Human | 84961 | Details Get a Quote |
| FBXL20 Knockout HCT 116 Cell Line | EDJ-KQ37545 | Human | 84961 | Details Get a Quote |
| FBXL20 Knockout HeLa Cell Line | EDJ-KQ37546 | Human | 84961 | Details Get a Quote |
