PRICKLE1
Prickle planar cell polarity protein 1 is a protein that in humans is encoded by the PRICKLE1 gene. [5]
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.
References
- GRCh38: Ensembl release 89: ENSG00000139174 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000036158 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Prickle planar cell polarity protein 1". Retrieved 2017-08-08.
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.
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