FBXL7: F-Box and Leucine Rich Repeat Protein 7
A substrate recognition component of the SCF ubiquitin ligase complex involved in cell cycle regulation and apoptosis.
Gene Information Card
| Symbol | FBXL7 |
|---|---|
| Full Name | F-box and leucine rich repeat protein 7 |
| Gene Type | protein coding |
| Chromosomal Location | 5p15.1 |
| NCBI Gene ID | 23194 ncbi.nlm.nih.gov/gene/23194 |
| Ensembl ID | ENSG00000145675 |
| UniProt ID | Q9UJT9 |
| OMIM ID | 609080 |
| HGNC ID | 13603 |
| Aliases | FBL7, FBX7, F-box/LRR-repeat protein 7 |
Description
FBXL7 encodes a member of the F-box protein family, characterized by an F-box domain and leucine-rich repeats (LRRs). As a substrate recognition component of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex, FBXL7 targets specific proteins for ubiquitination and proteasomal degradation. It plays roles in cell cycle progression, apoptosis, and cellular signaling. FBXL7 has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of FBXL7 expression alters degradation of substrates like AURKA, affecting mitotic progression and genomic stability. | COSMIC; PMID: 23431137 |
| Neuroblastoma | FBXL7 overexpression promotes apoptosis via targeting of BCL2 family members. | PMID: 21947068 |
| Lung cancer | FBXL7 downregulation correlates with poor prognosis and increased proliferation. | PMID: 28341828 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Medium |
| Lymph node | 6.5 | Low |
| Brain | 3.2 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.1 | Embryonic kidney |
| HeLa | 9.4 | Cervical carcinoma |
| A549 | 7.2 | Lung carcinoma |
| MCF7 | 5.6 | Breast carcinoma |
| K562 | 4.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; predicted NMD |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.890A>G (p.Gln297Arg) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to premature stop codons and likely nonsense-mediated decay, resulting in loss of FBXL7 function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in FBXL7.
Dominant Negative (DN)
No evidence for dominant-negative mutations in FBXL7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (Reactome: R-HSA-983168)
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• APC/C-mediated degradation of cell cycle proteins (Reactome: R-HSA-174143)
Protein Summary
FBXL7 is a 632-amino acid protein containing an N-terminal F-box domain (residues 35-80) and C-terminal leucine-rich repeats (LRRs) that mediate substrate recognition. It assembles into the SCF ubiquitin ligase complex via interaction with SKP1. Known substrates include AURKA (Aurora kinase A) and BCL2 family members, linking FBXL7 to mitotic regulation and apoptosis. The protein is predominantly nuclear and cytoplasmic.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXL7 Knockout HEK293 Cell Line | EDJ-KQ7879 | Human | 23194 | Details Get a Quote |
| FBXL7 Knockout A-549 Cell Line | EDJ-KQ33467 | Human | 23194 | Details Get a Quote |
| FBXL7 Knockout HeLa Cell Line | EDJ-KQ55702 | Human | 23194 | Details Get a Quote |
| FBXL7 Knockout HCT 116 Cell Line | EDJ-KQ72644 | Human | 23194 | Details Get a Quote |
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