FBH1: F-Box DNA Helicase 1
A key regulator of homologous recombination and genome stability
Gene Information Card
| Symbol | FBH1 |
|---|---|
| Full Name | F-Box DNA Helicase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p15.1 |
| NCBI Gene ID | 55203 ncbi.nlm.nih.gov/gene/55203 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q8NFZ0 |
| OMIM ID | 609245 |
| HGNC ID | 29187 |
| Aliases | FBXO31, F-box only protein 31, DNA helicase FBH1 |
Description
FBH1 (F-Box DNA Helicase 1) encodes a protein that combines an F-box domain with a DNA helicase domain. It functions as a component of the ubiquitin-proteasome system and plays a critical role in DNA repair, particularly in homologous recombination and replication fork stability. FBH1 is involved in the cellular response to DNA damage and helps maintain genome integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | FBH1 mutations may impair DNA repair, leading to genomic instability and tumorigenesis. | COSMIC; ClinVar |
| Ovarian cancer | Loss of FBH1 function disrupts homologous recombination, potentially increasing sensitivity to PARP inhibitors. | COSMIC; ClinVar |
| Colorectal cancer | Somatic mutations in FBH1 are associated with microsatellite instability and defective DNA repair. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Lymph node | 6.1 | Low |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.7 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| MCF7 | 6.2 | Breast cancer cells |
| A549 | 5.1 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function; premature stop |
| c.890A>G (p.Tyr297Cys) | Missense | <0.1% | Unknown; likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in FBH1 lead to truncated or absent protein, impairing DNA helicase activity and homologous recombination repair.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FBH1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for FBH1.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity | • ATP binding |
| • ubiquitin-protein transferase activity | • DNA repair |
| • homologous recombination | • cellular response to DNA damage stimulus |
Pathways
• Homologous recombination
• Fanconi anemia pathway
• Ubiquitin mediated proteolysis
Protein Summary
FBH1 is a 1068-amino acid protein containing an N-terminal F-box domain and a C-terminal helicase domain. It unwinds DNA in the 3' to 5' direction and is involved in the processing of stalled replication forks. FBH1 interacts with RAD51 and promotes the displacement of RAD51 from single-stranded DNA, thereby regulating homologous recombination. Its expression is highest in testis and bone marrow.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBH1 Knockout HEK293 Cell Line | EDJ-KQ10241 | Human | 84893 | Details Get a Quote |
| FBH1 Knockout A-549 Cell Line | EDJ-KQ37430 | Human | 84893 | Details Get a Quote |
| FBH1 Knockout HCT 116 Cell Line | EDJ-KQ37431 | Human | 84893 | Details Get a Quote |
| FBH1 Knockout HeLa Cell Line | EDJ-KQ37432 | Human | 84893 | Details Get a Quote |
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