PRICKLE1 cdna clone
PRICKLE1 cDNA Clone
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: cytosol; nuclear membrane; nucleus
Molecular Function: protein binding
Biological Process: negative regulation of transcription, DNA-dependent; neural tube closure; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein ubiquitination; protein import into nucleus; Wnt receptor signaling pathway, planar cell polarity pathway
Disease: Epilepsy, Progressive Myoclonic 1b
Research Articles on PRICKLE1
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Product Notes
The PRICKLE1 prickle1 (Catalog #AAA1275153) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGCCTTTGG AGATGGAGCC CAAGATGAGC AAACTGGCCT TTGGCTGTCA GAGAAGTTCC ACATCAGATG ATGACTCTGG CTGTGCATTG GAGGAGTACG CCTGGGTCCC CCCGGGCCTG AGACCAGAGC AGATCCAGCT CTATTTTGCT TGCTTACCAG AGGAAAAAGT TCCTTACGTT AACAGCCCCG GAGAGAAGCA TCGGATTAAA CAGCTTTTGT ACCAGTTACC ACCACATGAT AATGAGGTAC GGTATTGCCA GTCTTTGAGT GAAGAGGAGA AAAAAGAGTT GCAGGTGTTC AGTGCTCAGC GGAAGAAAGA AGCACTGGGA AGAGGAACAA TTAAGCTTCT GTCCAGAGCA GTCATGCATG CTGTGTGTGA GCAGTGTGGT TTGAAGATAA ATGGAGGTGA AGTTGCAGTG TTCGCCTCCC GTGCGGGCCC TGGTGTGTGC TGGCACCCAT CCTGTTTTGT CTGTTTCACG TGTAATGAGC TGCTGGTCGA CCTCATCTAT TTTTATCAGG ATGGAAAAAT TCACTGTGGC AGGCACCATG CAGAACTGCT CAAACCACGG TGCTCAGCAT GTGACGAGAT AATTTTTGCT GATGAGTGCA CAGAAGCTGA GGGTCGCCAT TGGCACATGA AACACTTCTG CTGCCTTGAG TGTGAAACGG TCCTGGGAGG ACAGAGGTAT ATCATGAAGG ACGGCCGCCC CTTCTGCTGT GGCTGTTTTG AGTCTCTCTA TGCGGAGTAC TGTGAAACCT GTGGGGAACA TATTGGTGTG GACCATGCAC AGATGACCTA TGACGGGCAG CACTGGCACG CCACGGAAGC CTGCTTTTCT TGTGCCCAGT GTAAAGCCTC TTTGTTGGGA TGTCCCTTCC TTCCCAAACA GGGTCAGATT TACTGCTCAA AAACGTGCAG TCTTGGTGAA GACGTCCATG CCTCTGATTC TTCCGACTCT GCATTTCAGT CAGCTCGATC AAGAGACTCC CGAAGAAGTG TCCGAATGGG CAAGAGCAGC CGGTCAGCAG ATCAGTGTAG ACAGTCTCTC CTCTTATCGC CTGCTCTGAA CTACAAGTTT CCTGGCCTCT CAGGCAATGC TGATGACACC CTTTCTCGAA AATTGGATGA TCTGAGTCTC TCCAGACAAG GAACAAGTTT TGCCAGTGAA GAATTTTGGA AAGGCAGAGT AGAGCAGGAA ACTCCAGAAG ACCCTGAAGA ATGGGCTGAT CATGAAGATT ATATGACGCA GCTCCTCCTC AAGTTTGGTG ATAAAAGCCT CTTTCAGCCA CAGCCCAATG AGATGGATAT TCGAGCCAGT GAGCACTGGA TATCTGATAA CATGGTTAAA AGTAAGACCG AGTTAAAGCA AAATAACCAG AGCCTTGCAA GTAAAAAATA CCAGTCTGAT ATGTACTGGG CACAGTCACA AGATGGACTG GGCGATTCTG CTTATGGCAG CCACCCAGGC CCTGCAAGCA GTAGAAGGCT TCAGGAATTG GAACTGGACC ATGGGGCTTC AGGGTATAAT CATGATGAAA CACAGTGGTA TGAAGATTCC CTGGAGTGTC TGTCAGACCT GAAACCAGAG CAAAGTGTTC GGGATTCGAT GGATTCTTTG GCATTGTCCA ATATCACAGG GGCTTCGGTG GATGGAGAAA ACAAGCCAAG GCCATCATTG TATTCTCTGC AAAATTTTGA GGAGATGGAA ACAGAAGATT GTGAGAAGAT GAGCAATATG GGAACTTTGA ACTCTTCCAT GCTGCACAGG AGTGCAGAGT CCTTAAAGAG TCTAAGTTCA GAGTTGTGTC CAGAGAAAAT CCTGCCTGAA GAGAAGCCAG TACATCTGCC AGTGCTCAGA AGGTCCAAGT CTCAATCCAG ACCCCAGCAG GTCAAGTTTT CTGATGATGT CATTGACAAT GGGAACTATG ACATTGAAAT CCGGCAGCCT CCGATGAGTG AAAGGACTCG GAGACGCGTC TACAATTTTG AAGAGAGGGG ATCCAGGTCT CATCACCACC GCCGCCGGAG AAGTAGAAAG TCCCGCTCCG ACAATGCCCT GAATCTTGTT ACAGAAAGAA AATACTCTCC CAAGGACAGA CTGCGGCTGT ACACCCCCGA TAACTATGAG AAATTTATAC AGAATAAAAG TGCCCGGGAG ATCCAAGCAT ACATCCAGAA TGCTGATCTC TACGGACAGT ACGCCCATGC CACTTCCGAT TATGGCCTGC AGAACCCAGG AATGAATCGG TTTCTGGGAC TCTACGGCGA GGATGATGAT TCCTGGTGTT CTTCCTCCTC CTCCTCTTCC GACTCGGAAG AAGAAGGATA TTTTCTTGGA CAACCAATCC CTCAACCCCG GCCACAGAGA TTTGCCTACT ATACAGATGA CCTTTCTAGT CCACCATCTG CACTTCCCAC CCCTCAGTTT GGTCAGAGGA CAACAAAATC CAAGAAGAAA AAGGGACACA AGGGCAAAAA TTGTATTATT TCTTAA. It is sometimes possible for the material contained within the vial of "PRICKLE1, cDNA Clone" 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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