PRICKLE1 Gene
Prickle Planar Cell Polarity Protein 1
Gene Information Card
| Symbol | PRICKLE1 |
|---|---|
| Full Name | Prickle Planar Cell Polarity Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 144165 ncbi.nlm.nih.gov/gene/144165 |
| Ensembl ID | ENSG00000139174 |
| UniProt ID | Q96MT3 |
| OMIM ID | 608500 |
| HGNC ID | 17019 |
| Aliases | RILP, MGC131851, FLJ20171, PRICKLE1 |
Description
PRICKLE1 encodes a protein involved in the planar cell polarity (PCP) pathway, which is critical for tissue morphogenesis, cell migration, and neural tube closure. The protein contains three LIM domains and a PET domain, and it localizes to the cytoplasm and cell membrane. Mutations in PRICKLE1 are associated with epilepsy, ataxia, and neural tube defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, progressive myoclonic, with ataxia | Loss-of-function mutations disrupt PCP signaling in neurons, leading to neuronal migration defects and hyperexcitability | ClinVar, OMIM |
| Neural tube defects | Impaired PCP signaling affects convergent extension during neural tube closure | OMIM, PubMed |
| Epileptic encephalopathy, early infantile | De novo missense mutations alter protein stability and PCP pathway function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 6.1 | Low |
| Liver | 3.2 | Not detected |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 5.4 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1073C>T (p.Thr358Met) | Missense | Rare | Alters LIM domain function, associated with epilepsy |
| c.1576C>T (p.Arg526Trp) | Missense | Rare | Disrupts PET domain, linked to neural tube defects |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression, severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in LIM or PET domains may interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • planar cell polarity | • cell migration |
| • neural tube closure | • LIM domain binding |
| • cytoplasm | • cell junction |
Pathways
• Planar Cell Polarity Pathway
• Wnt/PCP Signaling
Protein Summary
PRICKLE1 is a 831-amino acid protein with three LIM domains and a PET domain. It acts as a scaffold in the PCP pathway, interacting with Dishevelled and other PCP components to regulate cytoskeletal dynamics and cell polarity. The protein is highly expressed in the developing nervous system and is essential for proper neuronal migration and axon guidance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRICKLE1 Knockout HEK293 Cell Line | EDJ-KQ323 | Human | 144165 | Details Get a Quote |
| PRICKLE1 Knockout HeLa Cell Line | EDJ-KQ18298 | Human | 144165 | Details Get a Quote |
| PRICKLE1 Knockout HCT 116 Cell Line | EDJ-KQ18478 | Human | 144165 | Details Get a Quote |
| PRICKLE1 Knockout A-549 Cell Line | EDJ-KQ66991 | Human | 144165 | Details Get a Quote |
