PRICKLE1

Prickle planar cell polarity protein 1 is a protein that in humans is encoded by the PRICKLE1 gene. ^[5]

PRICKLE1
Identifiers
Aliases	PRICKLE1, EPM1B, RILP, prickle planar cell polarity protein 1
External IDs	OMIM: 608500; MGI: 1916034; HomoloGene: 17686; GeneCards: PRICKLE1; OMA:PRICKLE1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q12 Start 42,456,757 bp[1] End 42,590,355 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E3 Start 93,396,995 bp[2] End 93,493,772 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell tendon of biceps brachii lateral nuclear group of thalamus spinal ganglia endothelial cell trigeminal ganglion myocardium of left ventricle parietal pleura internal globus pallidus cardiac muscle tissue of right atrium Top expressed in digit phalanx of foot zygote secondary oocyte phalanx of second toe phalanx of fourth toe middle finger primary oocyte phalanx of big toe phalanx of middle finger More reference expression data BioGPS n/a
Gene ontology Molecular function zinc ion binding metal ion binding protein binding Cellular component nuclear membrane nucleus membrane cytoplasm cytosol Biological process negative regulation of canonical Wnt signaling pathway positive regulation of protein ubiquitination coronary vasculature development positive regulation of proteasomal ubiquitin-dependent protein catabolic process neural tube closure aorta development negative regulation of cardiac muscle cell myoblast differentiation negative regulation of transcription, DNA-templated Wnt signaling pathway, planar cell polarity pathway protein import into nucleus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 144165 106042 Ensembl ENSG00000139174 ENSMUSG00000036158 UniProt Q96MT3 Q3U5C7 RefSeq (mRNA) NM_001144881 NM_001144882 NM_001144883 NM_153026 NM_001033217 NM_001364846 RefSeq (protein) NP_001138353 NP_001138354 NP_001138355 NP_694571 NP_001028389 NP_001351775 Location (UCSC) Chr 12: 42.46 – 42.59 Mb Chr 15: 93.4 – 93.49 Mb PubMed search [3] [4]
Wikidata
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Function

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.