FBF1 (Fas Binding Factor 1) Gene
A gene encoding a protein involved in apoptosis, ciliogenesis, and centriole duplication.
Gene Information Card
| Symbol | FBF1 |
|---|---|
| Full Name | Fas (TNFRSF6) binding factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 85302 ncbi.nlm.nih.gov/gene/85302 |
| Ensembl ID | ENSG00000108830 |
| UniProt ID | Q8TED0 |
| OMIM ID | 609535 |
| HGNC ID | 24687 |
| Aliases | FBF-1, ALB, FLJ10718, MGC138499 |
Description
FBF1 (Fas Binding Factor 1) is a protein-coding gene located on chromosome 17q25.1. The encoded protein binds to the cytoplasmic domain of Fas (TNFRSF6) and is involved in Fas-mediated apoptosis. It also plays a role in ciliogenesis and centriole duplication. Mutations and altered expression of FBF1 have been associated with various cancers and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ciliopathy | Defective ciliogenesis due to FBF1 loss-of-function | PMID: 22922743 |
| Breast cancer | Overexpression of FBF1 may promote tumorigenesis | PMID: 25691885 |
| Hepatocellular carcinoma | FBF1 upregulation associated with poor prognosis | PMID: 30348673 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Liver | 6.1 | Low |
| Brain | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 10.7 | Cervical cancer cells |
| MCF7 | 8.9 | Breast cancer cells |
| HepG2 | 7.4 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; associated with ciliopathy |
| c.1523G>A (p.Arg508Gln) | Missense | 0.01% | Unknown functional effect |
| c.1876_1877insA (p.Thr626Asnfs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in FBF1 lead to truncated protein, impairing ciliogenesis and apoptosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for FBF1.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • protein binding (GO:0005515) |
| • ciliary basal body (GO:0036064) | • centrosome (GO:0005813) |
| • camera-type eye development (GO:0043010) |
Pathways
• Fas signaling pathway (KEGG: hsa04210)
• Apoptosis (KEGG: hsa04215)
• Ciliogenesis (Reactome: R-HSA-5620912)
Protein Summary
FBF1 encodes a 731-amino acid protein that localizes to the centrosome and ciliary basal body. It contains a coiled-coil domain and interacts with Fas receptor to mediate apoptosis. The protein is essential for primary cilium formation and centriole duplication. Loss of FBF1 function disrupts ciliogenesis and is linked to ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBF1 Knockout HEK293 Cell Line | EDJ-KQ10333 | Human | 85302 | Details Get a Quote |
| FBF1 Knockout A-549 Cell Line | EDJ-KQ37622 | Human | 85302 | Details Get a Quote |
| FBF1 Knockout HCT 116 Cell Line | EDJ-KQ37623 | Human | 85302 | Details Get a Quote |
| FBF1 Knockout HeLa Cell Line | EDJ-KQ37624 | Human | 85302 | Details Get a Quote |
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