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)
End	42,590,355 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	93,493,772 bp
RNA expression pattern
	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
	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
	144165
	106042
	ENSG00000139174
	ENSMUSG00000036158
	Q96MT3
	Q3U5C7
	NM_001144881; NM_001144882; NM_001144883; NM_153026
	NM_001033217; NM_001364846
	NP_001138353; NP_001138354; NP_001138355; NP_694571
	NP_001028389; NP_001351775
	Wikidata
View/Edit Human	View/Edit Mouse

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 PRICKLE1-related progressive myoclonus epilepsy and autism.^[6]^[7]^[8] Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139174 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ Algahtani, Hussein; Al-Hakami, Fahad; Al-Shehri, Mohammed; Shirah, Bader; Al-Qahtani, Mohammad H; Abdulkareem, Angham Abdulrahman; Naseer, Muhammad Imran (July 2019). "A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene". Seizure. 69: 133–39. doi:10.1016/j.seizure.2019.04.016. PMID 31035234.
^ Todd, Brittany P; Bassuk, Alexander G (December 2018). "A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder". Journal of Neurogenetics. 32 (4): 313–15. doi:10.1080/01677063.2018.1473862. PMC 6251753. PMID 29790814.
^ Ban, Yue; Yu, Ting; Wang, Jingyi; Wang, Xiaojia; Liu, Can; Baker, Clayton; Zou, Yimin (January 2022). "Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism". Experimental Neurology. 347 113880. doi:10.1016/j.expneurol.2021.113880. PMC 8718102. PMID 34597683.

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. Bibcode:2006BBRC..346..426K. 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139174 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036158 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Prickle planar cell polarity protein 1". Retrieved 2017-08-08.

[6] Algahtani, Hussein; Al-Hakami, Fahad; Al-Shehri, Mohammed; Shirah, Bader; Al-Qahtani, Mohammad H; Abdulkareem, Angham Abdulrahman; Naseer, Muhammad Imran (July 2019). "A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene". Seizure. 69: 133–39. doi:10.1016/j.seizure.2019.04.016. PMID 31035234.

[7] Todd, Brittany P; Bassuk, Alexander G (December 2018). "A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder". Journal of Neurogenetics. 32 (4): 313–15. doi:10.1080/01677063.2018.1473862. PMC 6251753. PMID 29790814.

[8] Ban, Yue; Yu, Ting; Wang, Jingyi; Wang, Xiaojia; Liu, Can; Baker, Clayton; Zou, Yimin (January 2022). "Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism". Experimental Neurology. 347 113880. doi:10.1016/j.expneurol.2021.113880. PMC 8718102. PMID 34597683.

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Function

References

Further reading