PRICKLE1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PRICKLE1 |
| Official Name | prickle planar cell polarity protein 1 [Source:HGNC Symbol;Acc:HGNC:17019] |
| Ensembl ID | ENSG00000139174 |
| Bio databases IDs | |
| Aliases | prickle planar cell polarity protein 1, REST/NRSF interacting LIM domain protein |
| Synonyms | 1110058P22Rik, b2b019Clo, EPM1B, LOC100128389, mpk1, Pk1, PRICKLE, prickle planar cell polarity protein 1, RILP |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRICKLE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- PET domain
- protein binding
- PET (Prickle Espinas Testin)
Pathways
Biological processes and signaling networks where the PRICKLE1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic lymphocytic leukemia
- benign rolandic epilepsy
- progressive myoclonic epilepsy type 1B
- epilepsy
- pervasive developmental disorder
- multiple sclerosis
- androgenic alopecia
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
- progressive myoclonic epilepsy
regulates
- dishevelled
- REST
role in cell
- differentiation
- apoptosis
- organization
- development
- formation
- assembly
- morphogenesis
- polarity
- disassembly
- redistribution
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- glutaminergic synapse
- perinuclear region
- cellular membrane
- Plasma Membrane
- cytosol
- nuclear envelope
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRICKLE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- embryonic nail plate morphogenesis
- mesenchyme development
- epidermal growth factor receptor signaling pathway
- outflow tract morphogenesis
- extracellular matrix assembly
- response to xenobiotic stimulus
- establishment of bipolar cell polarity involved in cell morphogenesis
- face morphogenesis
- planar cell polarity pathway involved in axis elongation
- vesicle-mediated transport
- neural tube closure
- negative regulation of transcription, DNA-dependent
- cytoskeleton-dependent intracellular transport
- axonogenesis
- apoptotic process
- positive regulation of protein ubiquitination
- basement membrane organization
- Wnt receptor signaling pathway, planar cell polarity pathway
- response to electrical stimulus
- dendrite development
- negative regulation of cardiac muscle cell myoblast differentiation
- bone mineralization
- cilium morphogenesis
- coronary vasculature development
- cornea development in camera-type eye
- renal tubule development
- eyelid development in camera-type eye
- negative regulation of canonical Wnt receptor signaling pathway
- tissue homeostasis
- tear secretion
- aorta development
- protein import into nucleus
- cardiac muscle cell development
- gene expression
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- primitive streak formation
- spindle assembly involved in mitosis
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear membrane
- cytosol
- proteasome complex
- trailing edge
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding