FBXO47 Gene - F-Box Protein 47
A substrate recognition component of the SCF ubiquitin ligase complex involved in cell cycle regulation and genomic stability.
Gene Information Card
| Symbol | FBXO47 |
|---|---|
| Full Name | F-box protein 47 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 286234 ncbi.nlm.nih.gov/gene/286234 |
| Ensembl ID | ENSG00000167978 |
| UniProt ID | Q5MNZ6 |
| OMIM ID | 609525 |
| HGNC ID | 28363 |
| Aliases | FBX47, F-box only protein 47 |
Description
FBXO47 encodes a member of the F-box protein family, characterized by an F-box domain. F-box proteins are components of the SCF (SKP1-CUL1-F-box) ubiquitin ligase complex, which mediates ubiquitination and subsequent proteasomal degradation of target proteins. FBXO47 is involved in cell cycle progression, chromosome segregation, and maintenance of genomic stability. It has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | FBXO47 mutations or altered expression may disrupt SCF complex targeting of cell cycle regulators, leading to genomic instability and tumorigenesis. | COSMIC; ClinVar |
| Primary microcephaly | Loss-of-function variants in FBXO47 are associated with autosomal recessive primary microcephaly, likely due to impaired centrosome duplication and mitotic fidelity. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line; moderate expression |
| HEK293 | 10.5 | Embryonic kidney; moderate expression |
| K562 | 7.8 | Leukemia; low expression |
| MCF7 | 5.2 | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.1456G>A (p.Glu486Lys) | Missense | Rare | Unknown functional impact; reported in cancer |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | Rare | Loss of function; reported in microcephaly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the F-box domain lead to loss of SCF complex binding and substrate degradation.
Gain of Function (GOF)
No gain-of-function mutations have been reported in FBXO47.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for FBXO47.
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)
Protein Summary
FBXO47 is a 547-amino acid F-box protein that serves as the substrate recognition subunit of the SCF ubiquitin ligase complex. It contains an N-terminal F-box domain (residues 60-105) that mediates binding to SKP1, and a C-terminal domain involved in substrate interaction. The protein localizes to centrosomes and nuclei, and is essential for proper mitotic progression and chromosome segregation. Loss of FBXO47 function leads to centrosome amplification, aneuploidy, and genomic instability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO47 Knockout HEK293 Cell Line | EDJ-KQ13463 | Human | 494188 | Details Get a Quote |
| FBXO47 Knockout HeLa Cell Line | EDJ-KQ60480 | Human | 494188 | Details Get a Quote |
| FBXO47 Knockout A-549 Cell Line | EDJ-KQ68950 | Human | 494188 | Details Get a Quote |
| FBXO47 Knockout HCT 116 Cell Line | EDJ-KQ77309 | Human | 494188 | Details Get a Quote |
