PRICKLE1 - prickle planar cell polarity protein 1 Gene

Homo sapiens

Also known as RILP; EPM1B

Gene ID: 144165 | Gene type: protein coding

About PRICKLE1

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:42,456,757-42,589,746 (from NCBI)

This gene has 21 transcripts (splice variants), 261 orthologues, 3 paralogues and is associated with 1 phenotype. Broad expression in spleen (RPKM 7.7), endometrium (RPKM 6.7) and 23 other tissues.

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]

PRICKLE1 Products(4)

mRNA	Protein	Name
NM_001144881.2	NP_001138353.1	prickle-like protein 1
NM_001144882.2	NP_001138354.1	prickle-like protein 1
NM_001144883.2	NP_001138355.1	prickle-like protein 1
NM_153026.3	NP_694571.2	prickle-like protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	14645515	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	17030191	GOA
involved in negative regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	17030191	GOA
involved in negative regulation of cardiac muscle cell myoblast differentiation	IDA IDA: Inferred from direct assay	21199191	GOA
involved in neural tube closure	IMP IMP: Inferred from mutant phenotype	21901791	GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	17030191	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	17030191	GOA
involved in protein import into nucleus	IDA IDA: Inferred from direct assay	21199191	GOA
involved in protein import into nucleus	IMP IMP: Inferred from mutant phenotype	14645515	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	14645515	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	14645515	GOA
located in nucleus	IDA IDA: Inferred from direct assay	14645515	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRICKLE1 Protein Structure

PET

LIM

0
200
400
600
831 a.a.

Protein Preferred Names

Protein Names

prickle-like protein 1

REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein

PRICKLE1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PRICKLE1	Q96MT3	UTP14C	Homo sapiens	Q08E77	Y2H Array	25416956
Intra	PRICKLE1	Q96MT3	PRPF31	Homo sapiens	Q8WWY3	Validated Y2H	25416956
Intra	PRICKLE1	Q96MT3	PRPF31	Homo sapiens	Q8WWY3	Y2H Prey Pooling	25416956
Cross	PRICKLE1	Q96MT3	Rest	Mus musculus	Q8VIG1	Anti Tag CoIP	14645515
Cross	PRICKLE1	Q96MT3	Rest	Mus musculus	Q8VIG1	Anti Tag CoIP	18976727
Intra	PRICKLE1	Q96MT3	DVL3	Homo sapiens	Q92997	Anti Tag CoIP	17030191
Intra	PRICKLE1	Q96MT3	KIF9	Homo sapiens	Q9HAQ2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Epilepsy, Progressive Myoclonic, 1b

EPM1B	Epilepsy, Progressive Myoclonic 1b
Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia	Pme With Ataxia
Prickle1-Related Progressive Myoclonic Epilepsy With Ataxia	Progressive Myoclonic Epilepsy 1b
Progressive Myoclonus Epilepsy With Ataxia	Epilepsy, Progressive Myoclonic, Type 1b

Myoclonic Epilepsy Of Unverricht And Lundborg

Progressive Myoclonic Epilepsy	Uld
EPM1	Pme
Epm1a	Baltic Myoclonic Epilepsy
Progressive Myoclonic Epilepsy Type 1	Unverricht-Lundborg Disease
Familial Progressive Myoclonic Epilepsy	Epilepsy, Progressive Myoclonic 1
Epilepsy, Progressive Myoclonic, 1a	Epilepsy, Progressive Myoclonic, 1
Myoclonic Epilepsy, Progressive	Epilepsy, Progressive Myoclonic 1a
Progressive Myoclonus Epilepsy Type 1	Progressive Myoclonus Epilepsy
Epilepsy Progressive Myoclonic	Progressive Myoclonic Epilepsy 1
Progressive Myoclonic Epilepsy 1a	Progressive Myoclonic Epilepsy Unverricht-Lundborg Type
Epilepsy, Myoclonic, Progressive	Epilepsy, Myoclonic, Progressive, Type 1a
Unverricht-Lundborg Syndrome	Myoclonic Epilepsies, Progressive

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Myoclonus

Progressive Myoclonus Epilepsy 1b

Epm1b

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Myoclonus Epilepsy

Epilepsies, Myoclonic

Myelomeningocele

Meningomyelocele

Spinal Cord Lipoma

Lipoma Of Spinal Cord

Coffin-Siris Syndrome 6

CSS6	Coffin-Siris Syndrome, Type 6

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Chromosome 17q23.1-Q23.2 Deletion Syndrome

17q23.1q23.2 Microdeletion Syndrome	17q23.1-Q23.2 Microdeletion Syndrome
Del(17)(Q23.1q23.2)	Monosomy 17q23.1q23.2
Monosomy 17q23.1-Q23.2

Anencephaly

Aprosencephaly	Anencephalus
Congenital Absence Of Brain	Absence Of A Large Part Of The Brain And The Skull
Anencephalia	Anencephalic Monster
Brain Absence	Brain Agenesis
Brain Aplasia	Absent Brain
Anencephalic	Congenital Absence Of Cerebrum
Congenital Hemicrania	Incomplete Anencephaly

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease	Epm1
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
Unverricht - Lundborg Disease	Unverricht'S Disease
Epilepsy, Progressive Myoclonic Type 1	Epilepsy, Progressive Myoclonus 1
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy	Baltic Myoclonic Epilepsy
Baltic Myoclonus	Baltic Myoclonus Epilepsy
Lundborg-Unverricht Syndrome	Mediterranean Myoclonic Epilepsy
Pme	Progressive Myoclonic Epilepsy
Progressive Myoclonus Epilepsy 1	Uld
Myoclonic Epilepsies, Progressive

Central Nervous System Lipoma

Lipoma Of The Cns

Progressive Myoclonus Epilepsy 4

Action Myoclonus-Renal Failure Syndrome	Amrf
Epm4	Myoclonus-Nephropathy Syndrome

Progressive Myoclonus Epilepsy 7

Epm7	Meak
Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation	Pme Type 7
Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency	Progressive Myoclonus Epilepsy Type 7

Progressive Myoclonus Epilepsy 6

Progressive Myoclonic Epilepsy Type 6	Epm6
Gosr2-Related Progressive Myoclonus Ataxia	North Sea Progressive Myoclonus Epilepsy
Pme Type 6	Progressive Myoclonus Epilepsy Type 6
Epilepsy, Progressive Myoclonic, 6

Progressive Myoclonus Epilepsy 1a

Epm1a

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities	Fetal Face Syndrome
Robinow Dwarfism	Mesomelic Dwarfism-Small Genitalia Syndrome
Robinow-Silverman-Smith Syndrome	Costovertebral Segmentation Defect With Mesomelia
Covesdem Syndrome	Robinow'S Syndrome
Robinow-Silverman Syndrome

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome	Caudal Regression Sequence
Sacral Agenesis	Caudal Dysgenesis Syndrome
SDAM	Caudal Dysplasia Sequence
Caudal Dysplasia	Sacral Agenesis Syndrome
Sacral Regression Syndrome	Sacral Defect And Anterior Sacral Meningocele
Rudd Klimek Syndrome	Sirenomelia

Lacrimoauriculodentodigital Syndrome

Ladd Syndrome	Levy-Hollister Syndrome
Lacrimo-Auriculo-Dento-Digital Syndrome	LADD
Lacrimoauriculodento-Digital Syndrome	Levy Hollister Syndrome
Lard Syndrome	Lacrimoauriculoradiodental Syndrome
LADDS	Congenital Duodenal Obstruction Due To Malrotation Of Intestine

Agnathia-Otocephaly Complex

Otocephaly	Holoprosencephaly-Agnathia
Dysgnathia Complex Agnathia-Holoprosencephaly	AGOTC
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Dysgnathia Complex
Agnathia-Holoprosencephaly	Cervical Auricle

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11093	PRICKLE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PRICKLE1	VGNC	VGNC:76271
Rattus norvegicus	PRICKLE1	RGD	RGD:735090
Canis familiaris	PRICKLE1	VGNC	VGNC:44965
Felis catus	PRICKLE1	VGNC	VGNC:64353
Mus musculus	PRICKLE1	MGD	MGI:1916034
Bos taurus	PRICKLE1	VGNC	VGNC:33315

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