PCP4L1 Gene
Purkinje Cell Protein 4 Like 1
Gene Information Card
| Symbol | PCP4L1 |
|---|---|
| Full Name | Purkinje Cell Protein 4 Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 284207 ncbi.nlm.nih.gov/gene/284207 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N4C6 |
| OMIM ID | 617793 |
| HGNC ID | 28467 |
| Aliases | PCP4L, FLJ32743 |
Description
PCP4L1 (Purkinje Cell Protein 4 Like 1) is a protein-coding gene that encodes a calmodulin-binding protein. It is predominantly expressed in the brain, particularly in the cerebellum, and is involved in calcium signaling and neuronal development. The protein shares homology with PCP4 (PEP-19) and may modulate calmodulin-dependent processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Potential role in calcium signaling dysregulation | Inferred from expression pattern and homology to PCP4 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Cerebral cortex | 8.3 | Low |
| Hippocampus | 6.1 | Low |
| Testis | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.2 | Moderate expression |
| U-87 MG (glioblastoma) | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202C>T (p.Arg68Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calmodulin binding (GO:0005516) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Calmodulin signaling pathway
Protein Summary
The PCP4L1 protein is a small, calmodulin-binding protein (134 amino acids) that localizes to both the cytoplasm and nucleus. It is thought to modulate calcium/calmodulin-dependent signaling, particularly in neurons. Its expression in the cerebellum suggests a role in motor coordination and learning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCP4L1 Knockout HEK293 Cell Line | EDJ-KQ14709 | Human | 654790 | Details Get a Quote |
| PCP4L1 Knockout HeLa Cell Line | EDJ-KQ60672 | Human | 654790 | Details Get a Quote |
| PCP4L1 Knockout A-549 Cell Line | EDJ-KQ69146 | Human | 654790 | Details Get a Quote |
| PCP4L1 Knockout HCT 116 Cell Line | EDJ-KQ77498 | Human | 654790 | Details Get a Quote |
