Description
Product Characteristics:
Prickle1 is an 831 amino acid protein that contains one PET domain and three LIM zinc-binding domains and localizes to the cytoplasm, as well as to the nuclear membrane. Expressed at higher levels in placenta and at lower levels in liver, brain, kidney, lung and pancreas, Prickle1 is thought to function as a nuclear receptor that interacts with NRSF, a silencer protein that binds the DNA sequence element NRSE (neuron-restrictive silencer element). Defects in the gene encoding Prickle1 are associated with autosomal recessive progressive myoclonic epilepsy-1B, which is characterized by quick jerks of the arms, shoulders or legs. The gene encoding Prickle1 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5 % of the human genome.
Subcellular location: Nucleus, Cell membrane
Synonyms: FLJ31627, FLJ31937, MGC138902, MGC138903, EPM1B, Prickle 1, Prickle homolog 1 Drosophila, Prickle like protein 1, Prickle-like 1, Prickle1, REST-Interacting LIM Domain Protein, REST/NRSF interacting LIM domain protein 1, RILP, PRIC1_HUMAN.
Target Information: 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]