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Aliases for PRICKLE1 Gene

Aliases for PRICKLE1 Gene

  • Prickle Planar Cell Polarity Protein 1 2 3 5
  • REST/NRSF-Interacting LIM Domain Protein 1 3 4
  • REST/NRSF Interacting LIM Domain Protein 2 3
  • RILP 3 4
  • REST (RE-1 Silencing Transcription Factor)/NRSF (Neuron-Restrictive Silencer Factor)-Interacting LIM Domain Protein 3
  • Prickle Homolog 1 (Drosophila) 2
  • Prickle-Like 1 (Drosophila) 2
  • Prickle-Like Protein 1 3
  • Prickle Homolog 1 3
  • Prickle-Like 1 3
  • EPM1B 3

External Ids for PRICKLE1 Gene

Previous GeneCards Identifiers for PRICKLE1 Gene

  • GC12M042752
  • GC12M042569
  • GC12M041139
  • GC12M042852
  • GC12M039878

Summaries for PRICKLE1 Gene

Entrez Gene Summary for PRICKLE1 Gene

  • 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]

GeneCards Summary for PRICKLE1 Gene

PRICKLE1 (Prickle Planar Cell Polarity Protein 1) is a Protein Coding gene. Diseases associated with PRICKLE1 include Epilepsy, Progressive Myoclonic 1B and Unverricht-Lundborg Syndrome. Among its related pathways are Wnt Signaling Pathway and Pluripotency and CDK-mediated phosphorylation and removal of Cdc6. An important paralog of this gene is PRICKLE2.

UniProtKB/Swiss-Prot for PRICKLE1 Gene

  • Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRICKLE1 Gene

Genomics for PRICKLE1 Gene

Regulatory Elements for PRICKLE1 Gene

Enhancers for PRICKLE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G042587 1.3 FANTOM5 ENCODE 7.9 +1.2 1222 4.3 PKNOX1 ARNT FEZF1 ZNF2 GLIS2 GATA2 FOS ZNF263 REST CBX8 PRICKLE1 GXYLT1 ENSG00000258068
GH12G043305 1.3 FANTOM5 Ensembl ENCODE 5.4 -716.0 -715962 2.0 ZNF639 ZNF740 BHLHE40 ZNF175 CEBPB GABPA POLR2H ZNF366 ZNF512 IRF1 PRICKLE1 GC12M043220 GC12P043236
GH12G043551 1.1 Ensembl ENCODE 4.7 -961.7 -961669 1.2 ZSCAN4 ZNF76 GLI4 ZNF2 GLIS2 ZNF366 ZNF263 SP3 ZNF426 REST PRICKLE1 ADAMTS20 RPL21P101
GH12G043338 1.1 Ensembl ENCODE 4.6 -748.7 -748667 1.2 PKNOX1 THRB RAD21 GATA2 FOS IKZF2 ZNF654 JUNB TBX21 NR2F2 PRICKLE1 GC12M043220 ADAMTS20
GH12G043271 1.2 FANTOM5 Ensembl ENCODE 4.2 -682.1 -682081 1.3 HDGF MTA2 BHLHE40 TEAD4 MAX BMI1 CHD7 EP300 RAD51 HDAC2 PRICKLE1 GC12P043236 GC12M043220
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRICKLE1 on UCSC Golden Path with GeneCards custom track

Promoters for PRICKLE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000050961 1055 2201 RB1 ARNT ZNF2 RAD21 GLIS2 EGR1 ZNF366 EGR2 ZNF263 ZNF654

Genomic Location for PRICKLE1 Gene

Chromosome:
12
Start:
42,456,757 bp from pter
End:
42,590,355 bp from pter
Size:
133,599 bases
Orientation:
Minus strand

Genomic View for PRICKLE1 Gene

Genes around PRICKLE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRICKLE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRICKLE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRICKLE1 Gene

Proteins for PRICKLE1 Gene

  • Protein details for PRICKLE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MT3-PRIC1_HUMAN
    Recommended name:
    Prickle-like protein 1
    Protein Accession:
    Q96MT3
    Secondary Accessions:
    • Q14C83
    • Q71QF8
    • Q96N00

    Protein attributes for PRICKLE1 Gene

    Size:
    831 amino acids
    Molecular mass:
    94300 Da
    Quaternary structure:
    • Interacts with REST.

neXtProt entry for PRICKLE1 Gene

Post-translational modifications for PRICKLE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PRICKLE1 Gene

Domains & Families for PRICKLE1 Gene

Protein Domains for PRICKLE1 Gene

Suggested Antigen Peptide Sequences for PRICKLE1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96MT3

UniProtKB/Swiss-Prot:

PRIC1_HUMAN :
  • Belongs to the prickle / espinas / testin family.
Family:
  • Belongs to the prickle / espinas / testin family.
genes like me logo Genes that share domains with PRICKLE1: view

Function for PRICKLE1 Gene

Molecular function for PRICKLE1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor.

Gene Ontology (GO) - Molecular Function for PRICKLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14645515
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PRICKLE1: view
genes like me logo Genes that share phenotypes with PRICKLE1: view

Human Phenotype Ontology for PRICKLE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRICKLE1 Gene

MGI Knock Outs for PRICKLE1:

Animal Model Products

CRISPR Products

miRNA for PRICKLE1 Gene

miRTarBase miRNAs that target PRICKLE1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRICKLE1 Gene

Localization for PRICKLE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRICKLE1 Gene

Nucleus membrane. Cytoplasm, cytosol. Note=A smaller amount is detected in the cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRICKLE1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PRICKLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 14645515
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0031965 nuclear membrane IDA,IEA 14645515
genes like me logo Genes that share ontologies with PRICKLE1: view

Pathways & Interactions for PRICKLE1 Gene

genes like me logo Genes that share pathways with PRICKLE1: view

Pathways by source for PRICKLE1 Gene

1 KEGG pathway for PRICKLE1 Gene

Gene Ontology (GO) - Biological Process for PRICKLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IMP 21901791
GO:0006606 protein import into nucleus IMP 14645515
GO:0031398 positive regulation of protein ubiquitination IDA 17030191
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA 17030191
GO:0035904 aorta development IEA --
genes like me logo Genes that share ontologies with PRICKLE1: view

No data available for SIGNOR curated interactions for PRICKLE1 Gene

Drugs & Compounds for PRICKLE1 Gene

No Compound Related Data Available

Transcripts for PRICKLE1 Gene

Unigene Clusters for PRICKLE1 Gene

Prickle homolog 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRICKLE1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: -
SP2:
SP3: - - - - - -
SP4: - - -
SP5: - - - - -
SP6: -
SP7: - - - - -
SP8: - - - - - -

Relevant External Links for PRICKLE1 Gene

GeneLoc Exon Structure for
PRICKLE1
ECgene alternative splicing isoforms for
PRICKLE1

Expression for PRICKLE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRICKLE1 Gene

Protein differential expression in normal tissues from HIPED for PRICKLE1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (40.2) and Blymphocyte (28.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRICKLE1 Gene



Protein tissue co-expression partners for PRICKLE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PRICKLE1 Gene:

PRICKLE1

SOURCE GeneReport for Unigene cluster for PRICKLE1 Gene:

Hs.524348

mRNA Expression by UniProt/SwissProt for PRICKLE1 Gene:

Q96MT3-PRIC1_HUMAN
Tissue specificity: Expressed at highest levels in placenta and at lower levels in lung, liver, kidney and pancreas. Expressed in thalamus, hippocampus, cerebral cortex, and cerebellum (in neurons rather than glia).

Evidence on tissue expression from TISSUES for PRICKLE1 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRICKLE1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PRICKLE1: view

Primer Products

No data available for mRNA differential expression in normal tissues for PRICKLE1 Gene

Orthologs for PRICKLE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRICKLE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRICKLE1 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia PRICKLE1 34 35
  • 91.78 (n)
cow
(Bos Taurus)
Mammalia PRICKLE1 34 35
  • 89.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRICKLE1 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prickle1 34
  • 85.8 (n)
mouse
(Mus musculus)
Mammalia Prickle1 34 16 35
  • 84.84 (n)
oppossum
(Monodelphis domestica)
Mammalia PRICKLE1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRICKLE1 34 35
  • 78.1 (n)
lizard
(Anolis carolinensis)
Reptilia PRICKLE1 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prickle1 34
  • 75.34 (n)
Str.1773 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398264 34
zebrafish
(Danio rerio)
Actinopterygii prickle1a 34 35
  • 67.1 (n)
prickle1b 35
  • 62 (a)
OneToMany
prickle1 34
fruit fly
(Drosophila melanogaster)
Insecta esn 35
  • 24 (a)
ManyToMany
pk 35
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea prkl-1 35
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9528 34
Species where no ortholog for PRICKLE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRICKLE1 Gene

ENSEMBL:
Gene Tree for PRICKLE1 (if available)
TreeFam:
Gene Tree for PRICKLE1 (if available)

Paralogs for PRICKLE1 Gene

Paralogs for PRICKLE1 Gene

(8) SIMAP similar genes for PRICKLE1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for PRICKLE1 Gene

genes like me logo Genes that share paralogs with PRICKLE1: view

Variants for PRICKLE1 Gene

Sequence variations from dbSNP and Humsavar for PRICKLE1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs113994140 Pathogenic, Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437] 42,469,523(-) TCAGC(A/G)GAAGA reference, missense
rs281865563 Pathogenic, Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437] 42,468,783(-) CTCCC(A/G)TGCGG reference, missense
rs281865564 Pathogenic, Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437] 42,464,620(-) ATATG(C/T)ACTGG reference, missense
rs559947948 Likely pathogenic 42,465,210(+) CTTCC(A/G)TGGCG reference, missense
rs796052929 Likely pathogenic 42,468,787(-) TCGCC(G/T)CCCGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PRICKLE1 Gene

Variant ID Type Subtype PubMed ID
esv2745821 CNV deletion 23290073
esv3629328 CNV loss 21293372
esv3629329 CNV loss 21293372
esv3892197 CNV loss 25118596
esv989438 CNV deletion 20482838
nsv1036522 CNV gain 25217958
nsv522388 CNV gain 19592680
nsv524513 CNV loss 19592680
nsv832388 CNV gain+loss 17160897

Variation tolerance for PRICKLE1 Gene

Residual Variation Intolerance Score: 14.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.89; 67.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRICKLE1 Gene

Human Gene Mutation Database (HGMD)
PRICKLE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRICKLE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRICKLE1 Gene

Disorders for PRICKLE1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for PRICKLE1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic 1b
  • epm1b
unverricht-lundborg syndrome
  • unverricht - lundborg disease
prickle1-related progressive myoclonus epilepsy with ataxia
  • epm1b
progressive myoclonus epilepsy
  • unverricht-lundborg syndrome
myoclonus epilepsy
  • epilepsies, myoclonic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PRIC1_HUMAN
  • Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]: An autosomal recessive disorder characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia. {ECO:0000269 PubMed:18976727, ECO:0000269 PubMed:21276947}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269 PubMed:21901791}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for PRICKLE1

Genetic Association Database (GAD)
PRICKLE1
Human Genome Epidemiology (HuGE) Navigator
PRICKLE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRICKLE1
genes like me logo Genes that share disorders with PRICKLE1: view

No data available for Genatlas for PRICKLE1 Gene

Publications for PRICKLE1 Gene

  1. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (PMID: 18976727) Bassuk A.G. … El-Shanti H.I. (Am. J. Hum. Genet. 2008) 2 3 4 22 64
  2. Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle. (PMID: 12525887) Katoh M. … Katoh M. (Int. J. Mol. Med. 2003) 2 3 4 22 64
  3. Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. (PMID: 21901791) Bosoi C.M. … Kibar Z. (Hum. Mutat. 2011) 3 4 64
  4. Mutations in prickle orthologs cause seizures in flies, mice, and humans. (PMID: 21276947) Tao H. … Bassuk A.G. (Am. J. Hum. Genet. 2011) 3 4 64
  5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3 46 64

Products for PRICKLE1 Gene

Sources for PRICKLE1 Gene

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