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Gene : PRICKLE1 Homo sapiens

Name  ? prickle planar cell polarity protein 1 Cytological Location  12q12
Brief Description  prickle planar cell polarity protein 1
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]
  • synonyms:
  • OTTHUMG00000169443,
  • RILP,
  • EPM1B,
  • prickle-like 1 (Drosophila),
  • EPM1B,
  • HGNC:17019,
  • AK056499,
  • FLJ31937,
  • uc001rnm.4,
  • REST/NRSF interacting LIM domain protein,
  • NM_001144881,
  • prickle homolog 1 (Drosophila),
  • RILP
  • identifiers:
  • 144165,
  • ENSG00000139174,

Genome feature

Region: gene ? Length: 132999  
Location: 12:42456757-42589755 reverse strand Cyto location: 12q12

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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777 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results