PPFIBP1 Gene - Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting Protein-Binding Protein 1
Comprehensive genomic and functional analysis of PPFIBP1, a gene encoding a liprin-beta protein involved in cell adhesion, synaptic function, and cancer signaling.
Gene Information Card
| Symbol | PPFIBP1 |
|---|---|
| Full Name | PPFIA Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p11.23 |
| NCBI Gene ID | 8496 ncbi.nlm.nih.gov/gene/8496 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q86W92 |
| OMIM ID | 603141 |
| HGNC ID | 9249 |
| Aliases | LIPRIN-BETA-1, LAR-interacting protein 1b, LIP.1, LIPRIN-BETA, PTPRF-interacting protein-binding protein 1 |
Description
PPFIBP1 encodes liprin-beta-1, a member of the liprin family of proteins that interact with the LAR (leukocyte common antigen-related) family of receptor protein tyrosine phosphatases. Liprin-beta-1 is involved in cell adhesion, synaptic vesicle trafficking, and regulation of focal adhesion dynamics. The gene is widely expressed and has been implicated in cancer progression, particularly through its role in cell migration and invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | PPFIBP1 overexpression promotes cell migration and invasion via FAK/Src signaling; associated with poor prognosis. | PMID: 25944712; COSMIC gene analysis |
| Breast Cancer | Amplification and overexpression of PPFIBP1 correlate with metastasis and reduced survival. | PMID: 25944712; COSMIC |
| Lung Adenocarcinoma | PPFIBP1 copy number gains and high expression linked to aggressive tumor behavior. | COSMIC; TCGA data |
| Synaptic Disorders | PPFIBP1 interacts with LAR-RPTPs to regulate synapse formation and function; variants may contribute to neurodevelopmental phenotypes. | OMIM #603141; PMID: 12629164 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Colon | 12.1 | Medium |
| Breast | 9.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 10.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression in embryonic kidney cells |
| HeLa | 12.3 | Moderate expression in cervical cancer cells |
| A549 | 14.1 | High expression in lung adenocarcinoma cells |
| MCF7 | 9.8 | Moderate expression in breast cancer cells |
| HCT116 | 16.2 | High expression in colorectal carcinoma 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% (COSMIC) | Truncation; predicted loss of function |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% (COSMIC) | Unknown; located in SAM domain |
| c.890_891insA (p.Val297fs) | Frameshift insertion | <0.1% (COSMIC) | Frameshift; likely loss of function |
| c.2101C>T (p.Arg701Trp) | Missense | 0.3% (COSMIC) | Unknown; located in C-terminal region |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Val297fs) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression in cancer suggests potential oncogenic activity through increased dosage.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PPFIBP1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• LAR-RPTP signaling pathway (Reactome: R-HSA-9006934)
• Focal adhesion pathway (KEGG: hsa04510)
• Axon guidance (KEGG: hsa04360)
Protein Summary
Liprin-beta-1 (PPFIBP1) is a 120 kDa protein containing a SAM domain and a coiled-coil region. It localizes to focal adhesions and synapses, where it binds to LAR-RPTPs (e.g., PTPRF) and regulates cytoskeletal dynamics, cell adhesion, and synaptic vesicle clustering. The protein is widely expressed, with highest levels in brain and certain cancer cell lines. Its overexpression in multiple cancers suggests a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPFIBP1 Knockout HEK293 Cell Line | EDJ-KQ5552 | Human | 8496 | Details Get a Quote |
| PPFIBP1 Knockout A-549 Cell Line | EDJ-KQ30124 | Human | 8496 | Details Get a Quote |
| PPFIBP1 Knockout HCT 116 Cell Line | EDJ-KQ30126 | Human | 8496 | Details Get a Quote |
| PPFIBP1 Knockout HeLa Cell Line | EDJ-KQ30127 | Human | 8496 | Details Get a Quote |
