PRICKLE1 prickle planar cell polarity protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRICKLE1provided by HGNC
Official Full Name: prickle planar cell polarity protein 1provided by HGNC
Primary source: HGNC:HGNC:17019
See related: Ensembl:ENSG00000139174 MIM:608500; AllianceGenome:HGNC:17019
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RILP; EPM1B
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]
Expression: Broad expression in spleen (RPKM 7.7), endometrium (RPKM 6.7) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q12

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (42456757..42589746, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (42414615..42547546, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (42850559..42983548, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PRICKLE1, a Wnt/PCP signaling component, is overexpressed and associated with inferior prognosis in acute myeloid leukemia.
Title: PRICKLE1, a Wnt/PCP signaling component, is overexpressed and associated with inferior prognosis in acute myeloid leukemia.
Authors used a proteomic approach to identify protein complexes associated with PRICKLE1. The mRNA expression levels of the corresponding genes were assessed in 8982 patients with invasive primary breast cancer. AUthors then characterised the molecular interaction between PRICKLE1 and the guanine nucleotide exchange factor ECT2.
Title: ECT2 associated to PRICKLE1 are poor-prognosis markers in triple-negative breast cancer.
showed that the patient's father (p.Asp760del) and mother (p.Asp201Asn) each had a mutation in prickle1
Title: Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.
This clinical report highlights the fact that in the context of an epileptic encephalopathy with developmental arrest, early onset severe PME-ataxia syndrome can be a PRICKLE1-associated phenotype
Title: PRICKLE1-related early onset epileptic encephalopathy.
Prickle1 localized to the membrane through its farnesyl moiety, and the membrane localization was necessary for Prickle1 to regulate migration, to bind to CLASPs and LL5beta, and to promote microtubule targeting of focal adhesions.
Title: Prickle1 promotes focal adhesion disassembly in cooperation with the CLASP-LL5β complex in migrating cells.
upregulation of PRICKLE1 in basal breast cancers, a subtype characterized by high metastatic potential, is associated with poor metastasis-free survival.
Title: PRICKLE1 Contributes to Cancer Cell Dissemination through Its Interaction with mTORC2.
Our experimental data demonstrate that high expression of Prickle1 and Vangl2 reduce the growth of neuroblastoma cells and indicate different roles of PCP proteins in tumorigenic cells compared to normal cells.
Title: Planar cell polarity gene expression correlates with tumor cell viability and prognostic outcome in neuroblastoma.
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.
study demonstrates that PRICKLE1 could act as a predisposing factor to human neural tube defects
Title: Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.
MINK1 interacts with and phosphorylates PRICKLE1 and PRICKLE2.
Title: Mink1 regulates β-catenin-independent Wnt signaling via Prickle phosphorylation.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Epilepsy, progressive myoclonic, 1B MedGen: C2676254 OMIM: 612437 GeneReviews: PRICKLE1-Related Disorders	Compare labs

EBI GWAS Catalog

Description
Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65600 (e-PCR)
- UniSTS:41993

D11S2921 (e-PCR)
- UniSTS:152074

WI-15796 (e-PCR)
- UniSTS:62987

STS-AA010491 (e-PCR)
- UniSTS:27693

RH78229 (e-PCR)
- UniSTS:15479

STS-N30055 (e-PCR)
- UniSTS:5254

PRICKLE1__5577 (e-PCR)
- UniSTS:464528

D12S1781 (e-PCR)
- UniSTS:64403

PRICKLE1 (e-PCR)
- UniSTS:503984

RH45246 (e-PCR)
- UniSTS:82382

D12S1130E (e-PCR)
- UniSTS:473303

RH120662 (e-PCR)
- UniSTS:132603

Clone Names

FLJ31627, FLJ31937, MGC138902, MGC138903

Gene Ontology Provided by GOA

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

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

Component	Evidence Code	Pubs
located_in cell trailing edge	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
part_of proteasome complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: prickle-like protein 1

Names: REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein; REST/NRSF interacting LIM domain protein; REST/NRSF-interacting LIM domain protein 1; prickle homolog 1; prickle-like 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.

Genomic

NG_012965.1 RefSeqGene

Range

5025..138014

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001144881.2 → NP_001138353.1 prickle-like protein 1

See identical proteins and their annotated locations for NP_001138353.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AC079601, AK122877, BC114939, BE858932

Consensus CDS

CCDS8742.1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

UniProtKB/TrEMBL

B3KVG3

Related

ENSP00000491228.1, ENST00000640132.1

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_001144882.2 → NP_001138354.1 prickle-like protein 1

See identical proteins and their annotated locations for NP_001138354.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AC079601, BC114940, BE858932, DA321918

Consensus CDS

CCDS8742.1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

UniProtKB/TrEMBL

B3KVG3

Related

ENSP00000449819.1, ENST00000552240.6

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_001144883.2 → NP_001138355.1 prickle-like protein 1

See identical proteins and their annotated locations for NP_001138355.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AC079601, AK056189, AK122881, BE858932, CN390789, DA321918

Consensus CDS

CCDS8742.1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

UniProtKB/TrEMBL

B3KVG3

Related

ENSP00000448359.1, ENST00000548696.6

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_153026.3 → NP_694571.2 prickle-like protein 1

See identical proteins and their annotated locations for NP_694571.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1-4 encode the same protein.

Source sequence(s)

AC079601, BC114939, BE858932, DA413584

Consensus CDS

CCDS8742.1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

UniProtKB/TrEMBL

B3KVG3

Related

ENSP00000345064.3, ENST00000345127.9

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_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

42456757..42589746 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011537947.3 → XP_011536249.1 prickle-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_011536249.1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

UniProtKB/TrEMBL

B3KVG3

Related

ENSP00000492644.1, ENST00000639958.1

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_017018840.2 → XP_016874329.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

UniProtKB/TrEMBL

B3KVG3

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_047428327.1 → XP_047284283.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00
XM_047428335.1 → XP_047284291.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00
XM_011537946.2 → XP_011536248.1 prickle-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_011536248.1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

UniProtKB/TrEMBL

B3KVG3

Related

ENSP00000491051.1, ENST00000639589.1

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_047428334.1 → XP_047284290.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00
XM_047428329.1 → XP_047284285.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00
XM_047428333.1 → XP_047284289.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

Related

ENSP00000492763.1, ENST00000640055.1
XM_047428328.1 → XP_047284284.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

Related

ENSP00000401060.1, ENST00000455697.6
XM_047428330.1 → XP_047284286.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00
XM_017018838.2 → XP_016874327.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

UniProtKB/TrEMBL

B3KVG3

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_047428332.1 → XP_047284288.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00
XM_017018839.2 → XP_016874328.1 prickle-like protein 1 isoform X1

UniProtKB/Swiss-Prot

Q14C83, Q71QF8, Q96MT3, Q96N00

UniProtKB/TrEMBL

B3KVG3

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