FBXL19: F-Box and Leucine-Rich Repeat Protein 19
A substrate recognition component of the SCF ubiquitin ligase complex involved in cell cycle regulation and cancer.
Gene Information Card
| Symbol | FBXL19 |
|---|---|
| Full Name | F-box and leucine-rich repeat protein 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 55020 ncbi.nlm.nih.gov/gene/55020 |
| Ensembl ID | ENSG00000166710 |
| UniProt ID | Q6PCT2 |
| OMIM ID | 609080 |
| HGNC ID | 13601 |
| Aliases | FBL19, FBXL19A, FBXL19B |
Description
FBXL19 encodes a member of the F-box protein family, characterized by an F-box domain and leucine-rich repeats (LRRs). As a substrate recognition subunit of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex, FBXL19 targets specific proteins for ubiquitination and proteasomal degradation. It plays roles in cell cycle progression, apoptosis, and transcriptional regulation. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | FBXL19 mutations may alter substrate specificity or complex stability, leading to dysregulated degradation of cell cycle regulators. | COSMIC; literature |
| Intellectual disability | Chromosomal rearrangements at 16p11.2 involving FBXL19 have been reported in patients with neurodevelopmental disorders. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 8.7 | Low |
| Brain | 6.2 | Low |
| Lung | 5.1 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Embryonic kidney |
| HeLa | 8.1 | Cervical carcinoma |
| A549 | 6.9 | Lung carcinoma |
| MCF7 | 5.4 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | <0.1% | Truncation; likely loss of function |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Unknown significance |
| c.1789_1791del (p.Phe597del) | In-frame deletion | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg338*) are predicted to cause loss of function by truncating the protein, impairing SCF complex assembly or substrate binding.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• SCF complex assembly
Protein Summary
FBXL19 is a 737-amino acid protein containing an N-terminal F-box domain (required for interaction with SKP1) and C-terminal leucine-rich repeats (LRRs) that mediate substrate recognition. It is a component of the SCF E3 ubiquitin ligase complex, targeting proteins such as cyclins and transcription factors for degradation. The protein is localized in both nucleus and cytoplasm. Post-translational modifications include phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXL19 Knockout HEK293 Cell Line | EDJ-KQ11472 | Human | 54620 | Details Get a Quote |
| FBXL19 Knockout HeLa Cell Line | EDJ-KQ38445 | Human | 54620 | Details Get a Quote |
| FBXL19 Knockout A-549 Cell Line | EDJ-KQ39784 | Human | 54620 | Details Get a Quote |
| FBXL19 Knockout HCT 116 Cell Line | EDJ-KQ39785 | Human | 54620 | Details Get a Quote |
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