PRICKLE1

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) Band 12q12 Start 42,456,757 bp End 42,590,355 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 E3 Start 93,396,995 bp End 93,493,772 bp
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
Wikidata
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Prickle planar cell polarity protein 1 is a protein that in humans is encoded by the PRICKLE1 gene.

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.

Further reading

• Katoh M, Katoh M (2003). "Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle". Int. J. Mol. Med. 11 (2): 249–56. doi:10.3892/ijmm.11.2.249. PMID 12525887.
• Jenny A, Darken RS, Wilson PA, Mlodzik M (2003). "Prickle and Strabismus form a functional complex to generate a correct axis during planar cell polarity signaling". EMBO J. 22 (17): 4409–20. doi:10.1093/emboj/cdg424. PMC 202366. PMID 12941693.
• Shimojo M, Hersh LB (2003). "REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor". Mol. Cell. Biol. 23 (24): 9025–31. doi:10.1128/mcb.23.24.9025-9031.2003. PMC 309669. PMID 14645515.
• Kim SM, Yang JW, Park MJ, Lee JK, Kim SU, Lee YS, Lee MA (2006). "Regulation of human tyrosine hydroxylase gene by neuron-restrictive silencer factor". Biochem. Biophys. Res. Commun. 346 (2): 426–35. doi:10.1016/j.bbrc.2006.05.142. PMID 16764822.
• Chan DW, Chan CY, Yam JW, Ching YP, Ng IO (2006). "Prickle-1 negatively regulates Wnt/beta-catenin pathway by promoting Dishevelled ubiquitination/degradation in liver cancer". Gastroenterology. 131 (4): 1218–27. doi:10.1053/j.gastro.2006.07.020. PMID 17030191.
• Greco SJ, Smirnov SV, Murthy RG, Rameshwar P (2007). "Synergy between the RE-1 silencer of transcription and NFkappaB in the repression of the neurotransmitter gene TAC1 in human mesenchymal stem cells". J. Biol. Chem. 282 (41): 30039–50. doi:10.1074/jbc.M703026200. PMID 17709376.
• Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI (2008). "A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome". Am. J. Hum. Genet. 83 (5): 572–81. doi:10.1016/j.ajhg.2008.10.003. PMC 2668041. PMID 18976727.
• Perry JR, McCarthy MI, Hattersley AT, Zeggini E, Weedon MN, Frayling TM (2009). "Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach". Diabetes. 58 (6): 1463–7. doi:10.2337/db08-1378. PMC 2682674. PMID 19252133.
• Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK (2009). "Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging". PLOS Genet. 5 (10): e1000685. doi:10.1371/journal.pgen.1000685. PMC 2752811. PMID 19834535.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.