PRICKLE1

This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq]

prickle homolog 1 (Drosophila)

Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor.

Aorta developmentIEA:Ensembl
Coronary vasculature developmentIEA:Ensembl
Negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIDA:BHF-UCL
Negative regulation of cardiac muscle cell myoblast differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:BHF-UCL
Neural tube closureManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of proteasomal ubiquitin-dependent protein catabolic processManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of protein ubiquitinationManual Assertion Based On ExperimentIDA:BHF-UCL
Protein import into nucleusManual Assertion Based On ExperimentIDA:UniProtKB
Wnt signaling pathway, planar cell polarity pathway1 PublicationNAS:ParkinsonsUK-UCL

Nucleus membrane
Cytoplasm, cytosol
A smaller amount is detected in the cytosol.

Epilepsy, progressive myoclonic 1B (EPM1B):
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1B is an autosomal recessive form characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia.
Neural tube defects (NTD):
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.