PPFIA3
PTPRF Interacting Protein Alpha 3
Gene Information Card
| Symbol | PPFIA3 |
|---|---|
| Full Name | PTPRF Interacting Protein Alpha 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 8541 ncbi.nlm.nih.gov/gene/8541 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | O75145 |
| OMIM ID | 603144 |
| HGNC ID | 9247 |
| Aliases | KIAA0654, LIPRIN-ALPHA-3, PPFIA3 |
Description
PPFIA3 encodes liprin-alpha-3, a member of the liprin-alpha family of proteins that interact with the cytoplasmic domain of protein tyrosine phosphatase receptor type F (PTPRF). Liprin-alpha-3 is involved in the regulation of synaptic vesicle trafficking, neurite outgrowth, and cell adhesion. It plays a critical role in the development and maintenance of neuronal synapses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and variable intellectual disability | Loss-of-function mutations in PPFIA3 disrupt synaptic protein interactions, impairing neuronal connectivity and synaptic transmission. | ClinVar: Pathogenic variants reported in multiple individuals with consistent phenotype. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Lung | 1.8 | Low |
| Heart | 1.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression; relevant for neuronal studies |
| HEK293 (embryonic kidney) | 2.3 | Moderate expression |
| HeLa (cervical carcinoma) | 1.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of liprin-alpha-3 protein |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, associated with neurodevelopmental disorder.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • synapse (GO:0045202) | • enzyme binding (GO:0019899) |
| • cell junction (GO:0030054) | • chemical synaptic transmission (GO:0007268) |
Pathways
• REACT:13685 (Neuronal System)
• REACT:21374 (Axon guidance)
• REACT:111045 (Developmental Biology)
Protein Summary
Liprin-alpha-3 is a 120 kDa protein that contains a coiled-coil domain and three SAM (sterile alpha motif) domains. It localizes to synapses and interacts with PTPRF, liprin-beta, and other synaptic proteins. It regulates the transport of synaptic vesicles and the assembly of presynaptic active zones. Mutations in PPFIA3 lead to synaptic dysfunction and neurodevelopmental phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPFIA3 Knockout HEK293 Cell Line | EDJ-KQ6277 | Human | 8541 | Details Get a Quote |
| PPFIA3 Knockout A-549 Cell Line | EDJ-KQ30167 | Human | 8541 | Details Get a Quote |
| PPFIA3 Knockout HCT 116 Cell Line | EDJ-KQ30168 | Human | 8541 | Details Get a Quote |
| PPFIA3 Knockout HeLa Cell Line | EDJ-KQ30169 | Human | 8541 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
