FIBP (FGF1 Intracellular Binding Protein)
A gene encoding a protein involved in intracellular trafficking and cell growth regulation, with implications in cancer and developmental disorders.
Gene Information Card
| Symbol | FIBP |
|---|---|
| Full Name | FGF1 Intracellular Binding Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 9158 ncbi.nlm.nih.gov/gene/9158 |
| Ensembl ID | ENSG00000110367 |
| UniProt ID | O43427 |
| OMIM ID | 608296 |
| HGNC ID | 3705 |
| Aliases | FIBP-1, FGFIBP, FGF1BP |
Description
FIBP encodes a protein that binds to fibroblast growth factor 1 (FGF1) and is involved in intracellular trafficking, cell growth, and differentiation. It is located on chromosome 11q13.1 and is expressed in various tissues. Mutations in FIBP have been associated with developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thauvin-Robinet-Faivre syndrome (THRAFB) | Loss-of-function mutations in FIBP impair FGF1 signaling, leading to developmental delay, intellectual disability, and facial dysmorphism. | ClinVar, OMIM |
| Colorectal cancer | Overexpression of FIBP may promote tumor growth by enhancing FGF1-mediated signaling. | COSMIC, NCBI Gene |
| Hepatocellular carcinoma | FIBP upregulation correlates with poor prognosis and increased cell proliferation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.7 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.8 | High expression |
| HeLa | 9.2 | Moderate expression |
| HepG2 | 11.5 | High expression |
| A549 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.202C>T (p.Arg68Trp) | Missense | <0.01% | Reduced FGF1 binding affinity |
| c.415_416del (p.Gln139Valfs*3) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein or nonsense-mediated decay, impairing FGF1 binding and intracellular trafficking.
Gain of Function (GOF)
Not reported; no activating mutations documented in COSMIC or ClinVar.
Dominant Negative (DN)
Not reported; no evidence of dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • membrane (GO:0016020) |
| • cytoplasm (GO:0005737) | • fibroblast growth factor receptor signaling pathway (GO:0008543) |
| • identical protein binding (GO:0042802) |
Pathways
• FGF signaling pathway (Reactome: R-HSA-190236)
• Intracellular signaling by FGF1 (Reactome: R-HSA-5654693)
Protein Summary
The FIBP protein (UniProt O43427) is a 22 kDa intracellular protein that binds specifically to FGF1 (acidic fibroblast growth factor). It is localized in the cytoplasm and membrane, and facilitates FGF1 transport to the nucleus, modulating cell proliferation and differentiation. The protein contains a conserved FGF-binding domain and is expressed in multiple tissues, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FIBP Knockout HEK293 Cell Line | EDJ-KQ2102 | Human | 9158 | Details Get a Quote |
| FIBP Knockout A-549 Cell Line | EDJ-KQ22213 | Human | 9158 | Details Get a Quote |
| FIBP Knockout HCT 116 Cell Line | EDJ-KQ22214 | Human | 9158 | Details Get a Quote |
| FIBP Knockout HeLa Cell Line | EDJ-KQ22215 | Human | 9158 | Details Get a Quote |
