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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PRICKLE1
prickle planar cell polarity protein 1
Chromosome 12 Β· 12q12
NCBI Gene: 144165Ensembl: ENSG00000139174.13HGNC: HGNC:17019UniProt: B3KVG3
49PubMed Papers
22Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of canonical Wnt signaling pathwayneural tube closureprotein import into nucleuspositive regulation of protein ubiquitinationUnverricht-Lundborg diseaseAbnormality of the skeletal systemRolandic epilepsyself-limited epilepsy with centrotemporal spikes
✦AI Summary

PRICKLE1 is a planar cell polarity (PCP) pathway component that regulates convergent extension during gastrulation and neural tube closure 1. The protein functions in the non-canonical Wnt/PCP signaling axis, where it acts as a proteasomal target of Wnt5a signaling and is necessary for proper nuclear localization of the transcription factor REST 23. Mechanistically, PRICKLE1 interacts with Dishevelled proteins and regulates cell polarity machinery to control tissue morphogenesis 2. PRICKLE1 dysfunction is associated with multiple developmental disorders. Loss-of-function mutations cause neural tube defects and recapitulate features of Robinow syndrome 42. The R104Q mutation, identified in progressive myoclonic epilepsy patients, impairs interaction between PRICKLE1 and REST, resulting in reduced excitatory synapse density, decreased seizure threshold, and autism-spectrum behaviors 5. PRICKLE1 variants also predispose to cleft palate, independent of Vangl2 function 6. Additionally, PRICKLE1 may serve as a biomarker in ankylosing spondylitis, where promoter hypomethylation correlates with elevated mRNA expression 7, and mutations are identified as prospective biomarkers for EZH2 inhibitor resistance in SMARCB1-deficient sarcomas 8.

Sources cited
1
PRICKLE1 is homologous to Drosophila prickle and involved in tissue polarity/PCP pathway
PMID: 12525887
2
PRICKLE1 is a proteasomal target of Wnt5a signaling; mutations cause Robinow syndrome phenotype
PMID: 25190059
3
PRICKLE1 functions in Wnt-5a/PRICKLE1/REST axis in lung cancer brain metastasis
PMID: 38309264
4
PRICKLE1 mutations identified in neural tube defects; acts as predisposing factor
PMID: 21901791
5
PRICKLE1 R104Q mutation impairs REST interaction; causes epilepsy and autism-like phenotypes
PMID: 34597683
6
PRICKLE1 variants associated with cleft palate; functions independently of Vangl2
PMID: 24689077
7
PRICKLE1 promoter hypomethylation and elevated mRNA in ankylosing spondylitis patients
PMID: 37742487
8
PRICKLE1 identified as prospective biomarker for EZH2 inhibitor resistance in sarcomas
PMID: 38315003
Disease Associationsβ“˜22
Unverricht-Lundborg diseaseOpen Targets
0.71Strong
Abnormality of the skeletal systemOpen Targets
0.48Moderate
Rolandic epilepsyOpen Targets
0.45Moderate
self-limited epilepsy with centrotemporal spikesOpen Targets
0.45Moderate
obesityOpen Targets
0.40Moderate
alcohol drinkingOpen Targets
0.37Weak
Unverricht-Lundborg syndromeOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.34Weak
goutOpen Targets
0.33Weak
hair colorOpen Targets
0.32Weak
Alzheimer diseaseOpen Targets
0.30Weak
overnutritionOpen Targets
0.30Weak
systemic lupus erythematosusOpen Targets
0.30Weak
colorectal cancerOpen Targets
0.30Weak
duodenal ulcerOpen Targets
0.29Weak
open-angle glaucomaOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.26Weak
ShockOpen Targets
0.25Weak
Parkinson diseaseOpen Targets
0.24Weak
diabetes mellitusOpen Targets
0.22Weak
Epilepsy, progressive myoclonic 1BUniProt
Neural tube defectsUniProt
Pathogenic Variants3
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)Pathogenic
Epilepsy, progressive myoclonic, 1B|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 104
Single alleleLikely pathogenic
Epilepsy, progressive myoclonic, 1B
β˜…β˜†β˜†β˜†2015
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His)Pathogenic
Epilepsy, progressive myoclonic, 1B
β˜†β˜†β˜†β˜†2011β†’ Residue 472
View on ClinVar β†—
Related Genes
DVL1Protein interaction98%DVL3Protein interaction98%FZD3Protein interaction98%FZD6Protein interaction98%CELSR1Protein interaction98%DAAM1Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
52%
Ovary
48%
Lung
26%
Liver
6%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
PRICKLE1DVL1DVL3FZD3FZD6CELSR1DAAM1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96MT3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.28Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.18 [0.11–0.28]
RankingsWhere PRICKLE1 stands among ~20K protein-coding genes
  • #9,002of 20,598
    Most Researched49
  • #4,066of 5,498
    Most Pathogenic Variants3
  • #984of 17,882
    Most Constrained (LOEUF)0.28 Β· top 10%
Genes detectedPRICKLE1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301774
1.00
2
PRICKLE1 gene methylation and abnormal transcription in Chinese patients with ankylosing spondylitis.
PMID: 37742487
Immunobiology Β· 2023
0.90
3
Astrocyte-induced mGluR1 activates human lung cancer brain metastasis via glutamate-dependent stabilization of EGFR.
PMID: 38309264
Dev Cell Β· 2024
0.80
4
Overcoming Clinical Resistance to EZH2 Inhibition Using Rational Epigenetic Combination Therapy.
PMID: 38315003
Cancer Discov Β· 2024
0.70
5
Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle.
PMID: 12525887
Int J Mol Med Β· 2003
0.60