PRICKLE-Like 1

Alternative Names

  • PRICKLE1
  • PRICKLE, Drosophila, Homolog of, 1
  • Rest-Interacting LIM Domain Protein
  • RILP
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OMIM Number

608500

Gene Map Locus
12q12

Description

PRICKLE1 is part of the noncanonical or planar cell polarity (WNT/PCP) pathway, in which some WNT family members activate a beta-CATENIN (CTNNB1)-independent pathway. PRICKLE1 is part of a gene family encoding proteins containing a highly conserved PET domain, which mediates Prickle1-protein-binding interactions.

Molecular Genetics

In human adult thalamus, hippocampus, cerebral cortex, and cerebellum, PRICKLE1 is mostly expressed in neurons rather than glia. These findings demonstrate that PRICKLE1 is expressed in multiple areas of the brain thought to be involved in generating seizures (neurons of thalamus, hippocampus, and cerebral cortex) and ataxia (cerebellar neurons).

Theoretically, PRICKLE1 is said to be an 831-amino acid protein, which contains 3 N-terminal LIM domains and 3 C-terminal nuclear localization signals. It also contains 4 N-glycosylation sites, 2 PKA phosphorylation sites, and a C-terminal CIIS (cys-ile-ile-ser) prenylation motif.

Epidemiology in the Arab World

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Other Reports

Jordan

In affected members of three unrelated consanguineous Jordanian and Palestinian families with progressive myoclonic epilepsy-1B (EPM1B), Bassuk et al. (2008) identified a homozygous 311G-A transition in the PRICKLE1 gene, resulting in an arg104-to-gln (R104Q) substitution in a highly conserved region. The mutation was not detected in 1,354 control individuals. In vitro functional expression studies showed that mutant PRICKLE1 failed to bind REST and blocked transport of REST out of the nucleus, resulting in constitutive activation of REST and inappropriate down-regulation of REST target genes.

Palestine

[See: Jordan > Bassuk et al., 2008].

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