Prickle1 prickle planar cell polarity protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Prickle1provided by MGI
Official Full Name: prickle planar cell polarity protein 1provided by MGI
Primary source: MGI:MGI:1916034
See related: Ensembl:ENSMUSG00000036158 AllianceGenome:MGI:1916034
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pk1; mpk1; Prickle; b2b019Clo; 1110058P22Rik
Summary: Predicted to enable zinc ion binding activity. Involved in several processes, including embryonic morphogenesis; extracellular matrix organization; and plasma membrane bounded cell projection organization. Acts upstream of or within aorta development and coronary vasculature development. Located in nucleus. Part of proteasome complex. Is active in several cellular components, including cell trailing edge; glutamatergic synapse; and postsynaptic density. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; limb; and sensory organ. Used to study autism spectrum disorder; autosomal recessive Robinow syndrome; progressive myoclonus epilepsy 1B; and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy 1B. Orthologous to human PRICKLE1 (prickle planar cell polarity protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in lung adult (RPKM 10.0), cortex adult (RPKM 4.6) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E3; 15 47.69 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (93396992..93494147, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (93499111..93596266, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism.
Title: Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism.
Malformation of Tear Ducts Underlies the Epiphora and Precocious Eyelid Opening in Prickle 1 Mutant Mice: Genetic Implications for Tear Duct Genesis.
Title: Malformation of Tear Ducts Underlies the Epiphora and Precocious Eyelid Opening in Prickle 1 Mutant Mice: Genetic Implications for Tear Duct Genesis.
Ontogenesis of the tear drainage system requires Prickle1-driven polarized basement membrane deposition.
Title: Ontogenesis of the tear drainage system requires Prickle1-driven polarized basement membrane deposition.
Prickle1 protein function contributes to both the migration and differentiation of osteoblast precursors in the frontal bone.
Title: Prickle1 regulates differentiation of frontal bone osteoblasts.
Necrotic eyelid debris plays an important role in ocular pathogenesis of the Prickle 1 mutant mouse, which may represent a type of non-infectious keratoconjunctivitis caused by damaged autologous tissues.
Title: Ocular surface pathogenesis associated with precocious eyelid opening and necrotic autologous tissue in mouse with disruption of Prickle 1 gene.
Prickle1 plays a role in positive regulation of differentiation and maturation of oligodendrocytes.
Title: Prickle1 as positive regulator of oligodendrocyte differentiation.
findings argue against the role of Prickle1 in regulating hair cell polarity in the cochlea. Instead, Prickle1 regulates the polarity-related growth of distal and central processes of apical SGNs
Title: Prickle1 regulates neurite outgrowth of apical spiral ganglion neurons but not hair cell polarity in the murine cochlea.
Prickle1 is part of a molecular mechanism that regulates facial branchiomotor neurons caudal migration.
Title: Prickle1 is necessary for the caudal migration of murine facial branchiomotor neurons.
these findings suggest PRICKLE1 mutations contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles.
Title: PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
Data suggest Prickle1 is part of the Wnt5a/PCP signaling, regulating cell polarity and affecting expression of multiple factors to stunt limb growth through altered patterns of gene expression, including the PCP genes Wnt5a and Vangl2.
Title: Prickle1 stunts limb growth through alteration of cell polarity and gene expression.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (4) 1 citation
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237381

AW215793 (e-PCR)
- UniSTS:165961

26.MMHAP90FRA11.seq (e-PCR)
- UniSTS:123760

PRICKLE1__5577 (e-PCR)
- UniSTS:464528

fa92f10.x1 (e-PCR)
- UniSTS:189663

Prickle1 (e-PCR), detects polymorphism
- UniSTS:532471

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Wnt signaling pathway, planar cell polarity pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anterior visceral endoderm cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular component organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cornea development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within coronary vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoskeleton-dependent intracellular transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic nail plate morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of bipolar cell polarity involved in cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of cell polarity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in establishment of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment or maintenance of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eyelid development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in face morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in focal adhesion disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of postsynaptic density structure	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of postsynaptic density structure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesenchyme development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cardiac muscle cell myoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cardiac muscle cell myoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube closure	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in polarized secretion of basement membrane proteins in epithelium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in post-anal tail morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in primitive streak formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in protein import into nucleus	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynaptic density assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic density assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to electrical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tear secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tissue homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell trailing edge	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
part_of proteasome complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: prickle-like protein 1

Names: prickle homolog 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001033217.5 → NP_001028389.1 prickle-like protein 1

See identical proteins and their annotated locations for NP_001028389.1

Status: VALIDATED

Source sequence(s)

AC124592, AC126556

Consensus CDS

CCDS27769.1

UniProtKB/Swiss-Prot

Q3U5C7

Related

ENSMUSP00000049204.5, ENSMUST00000048982.11

Conserved Domains (4) summary

cd09418
Location:189 → 244

LIM2_Prickle; The second LIM domain of Prickle

cd09420
Location:249 → 307

LIM3_Prickle; The third LIM domain of Prickle

cd09483
Location:126 → 184

LIM1_Prickle_1; The first LIM domain of Prickle 1

cd09827
Location:22 → 118

PET_Prickle; The PET domain of Prickle
NM_001364846.1 → NP_001351775.1 prickle-like protein 1

Status: VALIDATED

Source sequence(s)

AC126556, AK147883, AK153711

Consensus CDS

CCDS27769.1

UniProtKB/Swiss-Prot

Q3U5C7

Related

ENSMUSP00000104878.3, ENSMUST00000109255.3

Conserved Domains (4) summary

cd09418
Location:189 → 244

LIM2_Prickle; The second LIM domain of Prickle

cd09420
Location:249 → 307

LIM3_Prickle; The third LIM domain of Prickle

cd09483
Location:126 → 184

LIM1_Prickle_1; The first LIM domain of Prickle 1

cd09827
Location:22 → 118

PET_Prickle; The PET domain of Prickle

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

93396992..93494147 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006520265.2 → XP_006520328.1 prickle-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_006520328.1

UniProtKB/Swiss-Prot

Q3U5C7

Conserved Domains (4) summary

cd09418
Location:189 → 244

LIM2_Prickle; The second LIM domain of Prickle

cd09420
Location:249 → 307

LIM3_Prickle; The third LIM domain of Prickle

cd09483
Location:126 → 184

LIM1_Prickle_1; The first LIM domain of Prickle 1

cd09827
Location:22 → 118

PET_Prickle; The PET domain of Prickle
XM_006520264.5 → XP_006520327.1 prickle-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_006520327.1

UniProtKB/Swiss-Prot

Q3U5C7

Conserved Domains (4) summary

cd09418
Location:189 → 244

LIM2_Prickle; The second LIM domain of Prickle

cd09420
Location:249 → 307

LIM3_Prickle; The third LIM domain of Prickle

cd09483
Location:126 → 184

LIM1_Prickle_1; The first LIM domain of Prickle 1

cd09827
Location:22 → 118

PET_Prickle; The PET domain of Prickle
XM_030248265.2 → XP_030104125.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q3U5C7

Conserved Domains (4) summary

cd09418
Location:189 → 244

LIM2_Prickle; The second LIM domain of Prickle

cd09420
Location:249 → 307

LIM3_Prickle; The third LIM domain of Prickle

cd09483
Location:126 → 184

LIM1_Prickle_1; The first LIM domain of Prickle 1

cd09827
Location:22 → 118

PET_Prickle; The PET domain of Prickle