PRICKLE1

Reviewed December 2011

What is the official name of the PRICKLE1 gene?

The official name of this gene is “prickle homolog 1 (Drosophila).”

PRICKLE1 is the gene's official symbol. The PRICKLE1 gene is also known by other names, listed below.

What is the normal function of the PRICKLE1 gene?

The PRICKLE1 gene provides instructions for making a protein called prickle-like 1. The function of this protein is unclear, although it appears to play an important role in the development of the nervous system. Prickle-like 1 is likely part of a chemical signaling pathway known as noncanonical WNT signaling. During development before birth, noncanonical WNT signaling helps to determine the position of various components within cells (cell polarity). This pathway also regulates the movement of nerve cells (neurons) in the developing nervous system.

Studies suggest that prickle-like 1 interacts with other proteins, including RE1-silencing transcription factor (REST). The REST protein regulates several critical genes in neurons by turning off (suppressing) their activity. To regulate these genes, REST must enter the nucleus and attach (bind) to particular regions of DNA. Researchers believe that prickle-like 1 controls REST by transporting it out of the nucleus, which prevents it from binding to DNA and suppressing gene activity. It remains unclear how the interaction between prickle-like 1 and REST contributes to the normal development of the nervous system.

How are changes in the PRICKLE1 gene related to health conditions?

PRICKLE1-related progressive myoclonus epilepsy with ataxia - caused by mutations in the PRICKLE1 gene: At least three mutations in the PRICKLE1 gene have been identified in people with PRICKLE1-related progressive myoclonus epilepsy with ataxia. Each mutation changes a single protein building block (amino acid) in the prickle-like 1 protein. One of the known mutations appears to disrupt the interaction between prickle-like 1 and REST, blocking the transport of REST out of the nucleus. As a result, REST may inappropriately suppress certain genes in the developing nervous system. It is unclear how mutations in the PRICKLE1 gene lead to movement problems, seizures, and the other features of PRICKLE1-related progressive myoclonus epilepsy with ataxia.

Where is the PRICKLE1 gene located?

Cytogenetic Location: 12q12

Molecular Location on chromosome 12: base pairs 42,852,139 to 42,983,571

The PRICKLE1 gene is located on the long (q) arm of chromosome 12 at position 12.

More precisely, the PRICKLE1 gene is located from base pair 42,852,139 to base pair 42,983,571 on chromosome 12.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PRICKLE1?

You and your healthcare professional may find the following resources about PRICKLE1 helpful.

Educational resources - Information pages
The WNT Homepage, Stanford University (http://www.stanford.edu/group/nusselab/cgi-bin/wnt/)
Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK9674/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for PRICKLE1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=144165%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(PRICKLE1%5BTIAB%5D)%20OR%20(RILP%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/608500)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_PRICKLE1.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/144165)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=144165)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=17019)

What other names do people use for the PRICKLE1 gene or gene products?

EPM1B
FLJ31627
FLJ31937
MGC138902
MGC138903
PRIC1_HUMAN
prickle homolog 1
prickle-like 1
REST/NRSF-interacting LIM domain protein
REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein
RILP

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PRICKLE1?

amino acid ; ataxia ; cell ; DNA ; domain ; gene ; mutation ; myoclonus ; myoclonus epilepsy ; nervous system ; neuron ; nucleus ; protein ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

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. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83(5):572-81. doi: 10.1016/j.ajhg.2008.10.003. Epub 2008 Oct 30. (http://www.ncbi.nlm.nih.gov/pubmed/18976727?dopt=Abstract)
Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/144165)
Katoh M, Katoh M. 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. 2003 Feb;11(2):249-56. (http://www.ncbi.nlm.nih.gov/pubmed/12525887?dopt=Abstract)
Shimojo M, Hersh LB. Characterization of the REST/NRSF-interacting LIM domain protein (RILP): localization and interaction with REST/NRSF. J Neurochem. 2006 Feb;96(4):1130-8. Epub 2006 Jan 17. (http://www.ncbi.nlm.nih.gov/pubmed/16417580?dopt=Abstract)
Shimojo M, Hersh LB. REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor. Mol Cell Biol. 2003 Dec;23(24):9025-31. (http://www.ncbi.nlm.nih.gov/pubmed/14645515?dopt=Abstract)
Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, Rosenfeld JA, McConnell J, Madan-Khetarpal S, Berry-Kravis E, Griesbach H, Saneto RP, Scott MP, Antic D, Reed J, Boland R, Ehaideb SN, El-Shanti H, Mahajan VB, Ferguson PJ, Axelrod JD, Lehesjoki AE, Fritzsch B, Slusarski DC, Wemmie J, Ueno N, Bassuk AG. Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet. 2011 Feb 11;88(2):138-49. doi: 10.1016/j.ajhg.2010.12.012. Epub 2011 Feb 3. (http://www.ncbi.nlm.nih.gov/pubmed/21276947?dopt=Abstract)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.