PRICKLE1 - prickle planar cell polarity protein 1 Gene

Also Known as RILP; EPM1B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 144165

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	14645515	GOA

Biological Process GO Annotation	Evidence	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	PRICKLE1	NCBI