PRICKLE1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| prickle planar cell polarity protein 1 | MIM:608500 | Ensembl:ENSG00000139174 | HGNC:HGNC:17019 | PA134906946 | 12q12 |
GO terms in PRICKLE1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008270 | zinc ion binding |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0031965 | nuclear membrane |
| BP | IMP | GO:0001843 | neural tube closure |
| BP | IDA | GO:0006606 | protein import into nucleus |
| BP | IMP | GO:0006606 | protein import into nucleus |
| BP | IDA | GO:0031398 | positive regulation of protein ubiquitination |
| BP | IDA | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
| BP | IEA | GO:0035904 | aorta development |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | NAS | GO:0060071 | Wnt signaling pathway, planar cell polarity pathway |
| BP | IEA | GO:0060976 | coronary vasculature development |
| BP | IDA | GO:0090090 | negative regulation of canonical Wnt signaling pathway |
| BP | IDA | GO:2000691 | negative regulation of cardiac muscle cell myoblast differentiation |
Gene expression in normal tissue: PRICKLE1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PRICKLE1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-3858494 | Beta-catenin independent WNT signaling |
| reactome | R-HSA-4086400 | PCP/CE pathway |
| reactome | R-HSA-4608870 | Asymmetric localization of PCP proteins |
| wikipathways | WP428 | Wnt Signaling Pathway |
| kegg | hsa04310 | Wnt signaling pathway - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PRICKLE1
CLASSFICATION
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