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Aliases for PRICKLE1 Gene

Aliases for PRICKLE1 Gene

  • Prickle Homolog 1 (Drosophila) 2 3
  • RILP 3 4 6
  • REST/NRSF-Interacting LIM Domain Protein 1 3 4
  • EPM1B 3 6
  • REST (RE-1 Silencing Transcription Factor)/NRSF (Neuron-Restrictive Silencer Factor)-Interacting LIM Domain Protein 3
  • Prickle-Like 1 (Drosophila) 2
  • Prickle-Like Protein 1 3
  • Prickle-Like 1 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 Homolog 1 (Drosophila)) is a Protein Coding gene. Diseases associated with PRICKLE1 include epilepsy, progressive myoclonic 1b and prickle1-related progressive myoclonus epilepsy with ataxia. Among its related pathways are Signaling by GPCR and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is PRICKLE3.

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 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PRICKLE1 Gene

Start:
42,456,754 bp from pter
End:
42,590,355 bp from pter
Size:
133,602 bases
Orientation:
Minus strand

Genomic View for PRICKLE1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PRICKLE1 Gene at MOPED

Post-translational modifications for PRICKLE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PRICKLE1 Gene

Domains for PRICKLE1 Gene

Protein Domains for PRICKLE1 Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Q96MT3
Domain:
  • Contains 3 LIM zinc-binding domains.
  • Contains 1 PET domain.
Family:
  • Belongs to the prickle / espinas / testin family.
genes like me logo Genes that share domains with PRICKLE1: view

No data available for Gene Families for PRICKLE1 Gene

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 --
genes like me logo Genes that share ontologies with PRICKLE1: view
genes like me logo Genes that share phenotypes with PRICKLE1: view

Animal Model Products

CRISPR Products

miRNA for PRICKLE1 Gene

miRTarBase miRNAs that target PRICKLE1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRICKLE1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for PRICKLE1 Gene COMPARTMENTS Subcellular localization image for PRICKLE1 gene
Compartment Confidence
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for PRICKLE1 Gene

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

Pathways for PRICKLE1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0045892 negative regulation of transcription, DNA-templated IDA 17030191
genes like me logo Genes that share ontologies with PRICKLE1: view

Transcripts for PRICKLE1 Gene

mRNA/cDNA for PRICKLE1 Gene

Unigene Clusters for PRICKLE1 Gene

Prickle homolog 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRICKLE1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PRICKLE1

Flow Cytometry 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 for PRICKLE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRICKLE1 Gene

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).
genes like me logo Genes that share expressions with PRICKLE1: view

In Situ Assay 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 35
  • 99.56 (n)
  • 99.88 (a)
PRICKLE1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRICKLE1 35
  • 89.25 (n)
  • 95.67 (a)
PRICKLE1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRICKLE1 35
  • 91.78 (n)
  • 97.23 (a)
PRICKLE1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prickle1 35
  • 84.84 (n)
  • 93.26 (a)
Prickle1 16
Prickle1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRICKLE1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRICKLE1 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prickle1 35
  • 85.8 (n)
  • 93.38 (a)
chicken
(Gallus gallus)
Aves PRICKLE1 35
  • 78.1 (n)
  • 88 (a)
PRICKLE1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRICKLE1 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398264 35
tropical clawed frog
(Silurana tropicalis)
Amphibia prickle1 35
  • 75.34 (n)
  • 81.6 (a)
Str.1773 35
zebrafish
(Danio rerio)
Actinopterygii prickle1 35
prickle1a 35
  • 67.1 (n)
  • 72.1 (a)
prickle1a 36
  • 70 (a)
OneToMany
prickle1b 36
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta esn 36
  • 24 (a)
ManyToMany
pk 36
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea prkl-1 36
  • 36 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9528 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for PRICKLE1:
  • 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

Selected 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 MAF
rs721722 -- 42,533,283(+) ATCGT(C/T)ATGTT intron-variant
rs896557 -- 42,485,582(-) AGCTG(A/T)AATCT upstream-variant-2KB, intron-variant
rs896558 -- 42,485,580(-) CTGAA(A/C)TCTTC upstream-variant-2KB, intron-variant
rs896559 -- 42,485,324(-) CCAAA(C/G)TAGTC upstream-variant-2KB, intron-variant
rs921530 -- 42,507,393(-) AAAGG(G/T)TTCAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832388 CNV Gain+Loss 17160897
nsv522388 CNV Gain 19592680
nsv524513 CNV Loss 19592680
esv2745821 CNV Deletion 23290073
esv989438 CNV Deletion 20482838

Relevant External Links for PRICKLE1 Gene

HapMap Linkage Disequilibrium report
PRICKLE1
Human Gene Mutation Database (HGMD)
PRICKLE1

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

Disorders for PRICKLE1 Gene

(1) OMIM Diseases for PRICKLE1 Gene (608500)

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.

(1) University of Copenhagen DISEASES for PRICKLE1 Gene

Relevant External Links for PRICKLE1

GeneTests
PRICKLE1
GeneReviews
PRICKLE1
Genetic Association Database (GAD)
PRICKLE1
Human Genome Epidemiology (HuGE) Navigator
PRICKLE1
genes like me logo Genes that share disorders with PRICKLE1: view

Publications for PRICKLE1 Gene

  1. 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 23
  2. 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 23
  3. Towards complete sets of farnesylated and geranylgeranylated proteins. (PMID: 17411337) Maurer-Stroh S. … Eisenhaber F. (PLoS Comput. Biol. 2007) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Characterization of the REST/NRSF-interacting LIM domain protein (RILP): localization and interaction with REST/NRSF. (PMID: 16417580) Shimojo M. … Hersh L.B. (J. Neurochem. 2006) 3 23

Products for PRICKLE1 Gene

Sources for PRICKLE1 Gene

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