FBXO27
F-box protein 27
Gene Information Card
| Symbol | FBXO27 |
|---|---|
| Full Name | F-box protein 27 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 126433 ncbi.nlm.nih.gov/gene/126433 |
| Ensembl ID | ENSG00000161249 |
| UniProt ID | Q8NI29 |
| OMIM ID | 609095 |
| HGNC ID | 13613 |
| Aliases | FBX27, F-box only protein 27 |
Description
FBXO27 encodes a member of the F-box protein family, which are components of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex. F-box proteins function as substrate recognition subunits, targeting specific proteins for ubiquitination and subsequent proteasomal degradation. FBXO27 contains an F-box domain and is involved in cell cycle regulation, signal transduction, and protein turnover.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.0 | Moderate expression |
| HeLa | 2.5 | Low expression |
| K562 | 1.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown effect |
| c.100C>T | synonymous | <0.01% | No protein change |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein ubiquitination |
| • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | • nucleus |
| • cytoplasm |
Pathways
• SCF ubiquitin ligase complex pathway
• Ubiquitin-proteasome pathway
Protein Summary
FBXO27 is a 374-amino acid protein containing an N-terminal F-box domain. It is a substrate recognition component of the SCF ubiquitin ligase complex, targeting specific proteins for ubiquitination and degradation. The protein is expressed at low levels in multiple tissues, with highest expression in testis. Its precise biological substrates and physiological roles remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO27 Knockout HEK293 Cell Line | EDJ-KQ8918 | Human | 126433 | Details Get a Quote |
| FBXO27 Knockout A-549 Cell Line | EDJ-KQ34029 | Human | 126433 | Details Get a Quote |
| FBXO27 Knockout HCT 116 Cell Line | EDJ-KQ35262 | Human | 126433 | Details Get a Quote |
| FBXO27 Knockout HeLa Cell Line | EDJ-KQ35263 | Human | 126433 | Details Get a Quote |
