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PRICKLE1 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. Defects in PRICKLE1 are the cause of progressive myoclonic epilepsy type 1B (EPM1B). EPM1B is an autosomal recessive disorder characterized by myoclonus that progresses in severity over time, tonic-clonic seizures and ataxia. Defects in PRICKLE1 may be a cause of susceptibility to 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. Belongs to the prickle / espinas / testin family. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 12q12
Cellular Component: cytosol; nuclear membrane; nucleus
Molecular Function: protein binding; zinc ion binding
Biological Process: negative regulation of transcription, DNA-dependent; neural tube closure; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein ubiquitination; protein import into nucleus; Wnt receptor signaling pathway, planar cell polarity pathway
Disease: Epilepsy, Progressive Myoclonic 1b
Reference #:  Q96MT3 (UniProtKB)
Alt. Names/Synonyms: EPM1B; FLJ31627; FLJ31937; MGC138902; MGC138903; PRIC1; prickle homolog 1 (Drosophila); prickle-like 1; Prickle-like protein 1; PRICKLE1; REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein; REST/NRSF-interacting LIM domain protein 1; RILP
Gene Symbols: PRICKLE1
Molecular weight: 94,300 Da
Basal Isoelectric point: 5.84  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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