PPFIA1
PTPRF Interacting Protein Alpha 1 (Liprin Alpha 1)
Gene Information Card
| Symbol | PPFIA1 |
|---|---|
| Full Name | PTPRF Interacting Protein Alpha 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.3 |
| NCBI Gene ID | 8500 ncbi.nlm.nih.gov/gene/8500 |
| Ensembl ID | ENSG00000131626 |
| UniProt ID | Q13136 |
| OMIM ID | 603144 |
| HGNC ID | 9246 |
| Aliases | LIP.1, LIPRIN, LIPRIN-ALPHA-1, LIPA1 |
Description
PPFIA1 encodes liprin alpha 1, a member of the liprin family of proteins that interact with the cytoplasmic region of protein tyrosine phosphatase receptor type F (PTPRF). Liprin alpha 1 is involved in the regulation of cell adhesion, cytoskeletal organization, and synaptic vesicle trafficking. It plays a role in the formation and maintenance of neuronal synapses and has been implicated in cancer progression through its effects on cell migration and invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PPFIA1 overexpression promotes cell migration and invasion via focal adhesion dynamics | COSMIC, literature |
| Lung cancer | Amplification of PPFIA1 at 11q13.3 contributes to tumor progression | COSMIC, literature |
| Colorectal cancer | PPFIA1 upregulation associated with poor prognosis and metastasis | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Breast | 6.3 | Low |
| Colon | 5.1 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 12.4 | Moderate expression |
| A549 (lung cancer) | 9.8 | Low expression |
| HCT116 (colorectal cancer) | 7.5 | Low expression |
| SH-SY5Y (neuroblastoma) | 18.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown functional effect |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | <0.1% | Predicted loss of function |
| Amplification (11q13.3) | Copy number gain | ~5% in breast cancer | Increased expression, oncogenic potential |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of liprin alpha 1 function.
Gain of Function (GOF)
Gene amplification and overexpression in cancers may confer gain-of-function effects promoting cell migration.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PPFIA1.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • synaptic vesicle transport |
| • cytoskeleton organization | • protein tyrosine phosphatase binding |
| • focal adhesion assembly |
Pathways
• Focal adhesion
• Axon guidance
• Signaling by receptor tyrosine kinases
Protein Summary
Liprin alpha 1 is a 120 kDa protein that contains a coiled-coil domain and three SAM (sterile alpha motif) domains. It localizes to focal adhesions and synapses, where it scaffolds signaling complexes. Through interaction with PTPRF and other partners, it regulates cell adhesion dynamics and neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPFIA1 Knockout HEK293 Cell Line | EDJ-KQ5557 | Human | 8500 | Details Get a Quote |
| PPFIA1 Knockout A-549 Cell Line | EDJ-KQ30131 | Human | 8500 | Details Get a Quote |
| PPFIA1 Knockout HCT 116 Cell Line | EDJ-KQ30132 | Human | 8500 | Details Get a Quote |
| PPFIA1 Knockout HeLa Cell Line | EDJ-KQ30133 | Human | 8500 | Details Get a Quote |
