Human Prickle-Like Protein 1 (PRICKLE1) ELISA Kit | PRICKLE1 elisa kit
Human Prickle-Like Protein 1 (PRICKLE1) ELISA Kit
* Allow all reagents to warm to room temperature for at least 30 minutes before opening.
* Pre-rinse the pipet tip with reagent, use fresh pipet tips for each sample, standard and reagent to avoid contamination.
* Unused wells must be kept desiccated at 4 degree C in the sealed bag provided.
* Mix Thoroughly is very important for the result. It is recommended using low frequency oscillator or slight hand shaking every 10 minutes.
* It is recommended that all samples and standards be assayed in duplicate or triplicate.
Background: PRICKLE1 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. The deduced 831-amino acid protein contains 3 N-terminal LIM domains and 3 C-terminal nuclear localization signals. It also contains 4 N-glycosylation sites, 2 PKA phosphorylation sites, and a C-terminal CIIS (cys-ile-ile-ser) prenylation motif. Northern blot analysis detected a single 4.4-kb transcript in all tissues examined, with the highest level in placenta.
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Sep 2009]
Uniprot Description
PRICKLE1: Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor. Defects in PRICKLE1 are the cause of progressive myoclonic epilepsy type 1B (EPM1B). EPM1B is an autosomal recessive disorder characterized by myoclonus that progresses in severity over time, tonic-clonic seizures and ataxia. Defects in PRICKLE1 may be a cause of susceptibility to neural tube defects (NTD). Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. Belongs to the prickle / espinas / testin family.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 12q12
Cellular Component: nuclear membrane; cytosol; nucleus
Molecular Function: protein binding; zinc ion binding
Biological Process: positive regulation of protein ubiquitination; protein import into nucleus; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; neural tube closure; negative regulation of transcription, DNA-dependent
Disease: Epilepsy, Progressive Myoclonic 1b
Research Articles on PRICKLE1
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Product Notes
The Human PRICKLE1 prickle1 (Catalog #AAA9714827) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9714827 ELISA Kit recognizes Human PRICKLE1. It is sometimes possible for the material contained within the vial of "Prickle-Like Protein 1 (PRICKLE1), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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