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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRICKLE1 Gene

protein-coding   GIFtS: 59
GCID: GC12M042852

Prickle Homolog 1 (Drosophila)

(Previous name: prickle-like 1 (Drosophila))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Prickle Homolog 1 (Drosophila)1 2     Prickle-Like 1 (Drosophila)1
RILP2 3 5     Prickle-Like 12
REST/NRSF-Interacting LIM Domain Protein 12 3     Prickle-Like Protein 12
EPM1B2 5     REST (RE-1 Silencing Transcription Factor)/NRSF (Neuron-Restrictive
Silencer Factor)-Interacting LIM Domain Protein2

External Ids:    HGNC: 170191   Entrez Gene: 1441652   Ensembl: ENSG000001391747   OMIM: 6085005   UniProtKB: Q96MT33   

Export aliases for PRICKLE1 gene to outside databases

Previous GC identifers: GC12M042752 GC12M042569 GC12M041139 GC12M039878


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 myoclonus epilepsy, and progressive myoclonus epilepsy, and among its related super-pathways are Wnt Signaling Pathway. GO annotations related to this gene include protein binding and zinc ion binding. An important paralog of this gene is PRICKLE3.

UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRICKLE1 gene promoter:
         FOXF2   LCR-F1   NF-AT   AREB6   NF-AT4   SRY   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PRICKLE1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRICKLE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRICKLE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q12   Ensembl cytogenetic band:  12q12   HGNC cytogenetic band: 12p11-q12

PRICKLE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRICKLE1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M042852:  view genomic region     (about GC identifiers)

Start:
42,852,140 bp from pter      End:
42,984,157 bp from pter
Size:
132,018 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3 (See protein sequence)
Recommended Name: Prickle-like protein 1 precursor  
Size: 831 amino acids; 94300 Da
Subunit: Interacts with REST
Subcellular location: Nucleus membrane. Cytoplasm, cytosol. Note=A smaller amount is detected in the cytosol
Secondary accessions: Q14C83 Q71QF8 Q96N00

Explore the universe of human proteins at neXtProt for PRICKLE1: NX_Q96MT3

Explore proteomics data for PRICKLE1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96MT3

  • PRICKLE1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRICKLE1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001138353.1  NP_001138354.1  NP_001138355.1  NP_694571.2  

    ENSEMBL proteins: 
     ENSP00000398947   ENSP00000448359   ENSP00000345064   ENSP00000449819   ENSP00000447870  
     ENSP00000446970   ENSP00000446699   ENSP00000401060  

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    Novus Biologicals PRICKLE1 Protein
    Novus Biologicals PRICKLE1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PRICKLE1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA14645515
    GO:0005829cytosol IDA14645515
    GO:0031965nuclear membrane IDA14645515

    PRICKLE1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR010442 PET_domain
     IPR001781 Znf_LIM

    Graphical View of Domain Structure for InterPro Entry Q96MT3

    ProtoNet protein and cluster: Q96MT3

    1 Blocks protein domain: IPB001781 Zn-binding protein

    UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3
    Similarity: Belongs to the prickle / espinas / testin family
    Similarity: Contains 3 LIM zinc-binding domains
    Similarity: Contains 1 PET domain


    PRICKLE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRIC1_HUMAN, Q96MT3
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14645515
    GO:0008270zinc ion binding IEA--
         
    PRICKLE1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PRICKLE1:
     Decreased viability with pacli 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Prickle1):
     behavior/neurological  cellular  embryogenesis  mortality/aging  nervous system 
     no phenotypic analysis 

    PRICKLE1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PRICKLE1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRICKLE1 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidPRICKLE1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PRICKLE1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway
    Wnt signaling pathway0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for PRICKLE1):
        Wnt signaling pathway


    PRICKLE1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRICKLE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for PRICKLE1 (Q96MT33 ENSP000003450644) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DVL3Q929973, ENSP000003160544I2D: score=1 STRING: ENSP00000316054
    VIPP012823, ENSP000003562134I2D: score=1 STRING: ENSP00000356213
    DVL2O146413, ENSP000000053404I2D: score=1 STRING: ENSP00000005340
    SMURF2Q9HAU43, ENSP000002624354I2D: score=1 STRING: ENSP00000262435
    DVL1O146403, ENSP000003681694I2D: score=1 STRING: ENSP00000368169
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure IMP--
    GO:0006606protein import into nucleus IMP14645515
    GO:0031398positive regulation of protein ubiquitination IDA17030191
    GO:0032436positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA17030191
    GO:0045892negative regulation of transcription, DNA-dependent IDA17030191

    PRICKLE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRICKLE1 (PRIC1)

    Search CenterWatch for drugs/clinical trials and news about PRICKLE1 / PRIC1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRICKLE1 gene (4 alternative transcripts): 
    NM_001144881.1  NM_001144882.1  NM_001144883.1  NM_153026.2  

    Unigene Clusters for PRICKLE1:

    Prickle homolog 1 (Drosophila)
    Hs.524348  [show with all ESTs], Hs.720221  [show with all ESTs]
    Unigene Representative Sequences: BC042722, NM_153026
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000445766 ENST00000548696 ENST00000345127(uc009zka.2) ENST00000552240
    ENST00000552108 ENST00000551050 ENST00000547113 ENST00000552200 ENST00000455697(uc010skv.2 uc001rnl.3 uc010skw.2 uc001rnm.3)

    miRNA
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    hsa-miR-323-3p hsa-miR-30c hsa-miR-495 hsa-miR-520d-5p hsa-miR-3651 hsa-miR-200a hsa-miR-3074-3p hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidPRICKLE1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF399844.1 AF543759.1 AF543760.1 AK021728.1 AK056189.1 AK056499.1 AK096233.1 AK122877.1 
    AK122881.1 BC114939.1 BC114940.1 

    8 DOTS entries:

    DT.114746  DT.91801369  DT.101972547  DT.100751197  DT.121165687  DT.75176772  DT.91710306  DT.97818147 

    6 AceView cDNA sequences:

    BG722975 BC042722 AA743853 BE933908 T25315 BV167938 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PRICKLE1 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for PRICKLE1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRICKLE1 expression in normal human tissues (normalized intensities)      PRICKLE1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAATGGTT
    PRICKLE1 Expression
    About this image


    PRICKLE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Uncategorized (Uncategorized)    fully expand to see all 5 entries
             PureStem Progenitor W10
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             Vas Deferens
             testis ; cells in seminiferus ducts   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Autopod Long Bone
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex

    See PRICKLE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRICKLE1

    SOURCE GeneReport for Unigene clusters: Hs.524348 Hs.720221

    UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3
    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)

        SABiosciences Expression via Pathway-Focused PCR Array including PRICKLE1: 
              WNT Signaling Pathway in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRICKLE1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PRICKLE1 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prickle11 , 5 prickle homolog 1 (Drosophila)1, 5 84.84(n)1
    93.26(a)1
      15 (47.69 cM)5
    1060421  NM_001033217.41  NP_001028389.11 
     934991145 
    chicken
    (Gallus gallus)
    Aves PRICKLE11 prickle homolog 1 (Drosophila) 78.42(n)
    88.61(a)
      417793  XM_416036.3  XP_416036.2 
    lizard
    (Anolis carolinensis)
    Reptilia PRICKLE16
    Uncharacterized protein
    82(a)
    1 ↔ 1
    5(55229141-55237674)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3982642 LIM protein prickle b 76.42(n)    AY055473.1 
    zebrafish
    (Danio rerio)
    Actinopterygii prickle12 prickle-like 1 (Drosophila) 76.25(n)   368249  AY286492.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta esn6
    pk6
    prickle
    22(a)
    19(a)
    many ↔ many
    many ↔ many
    2R(2973821-3015375)
    2R(3038207-3110885)
    worm
    (Caenorhabditis elegans)
    Secernentea prkl-16
    Protein PRKL-1, isoform a
    30(a)
    1 → many
    IV(6978775-6986935)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRICKLE1 gene
    PRICKLE32  PRICKLE42  LMCD12  TES2  PRICKLE22  
    8 SIMAP similar genes for PRICKLE1 using alignment to 4 protein entries:     PRIC1_HUMAN (see all proteins):
    RILP    PRICKLE2    LMO6    PRICKLE3    DKFZp586B2022    PRICKLE4
    LMCD1    TES

    PRICKLE1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PRICKLE1
    PGOHUM00000258624 PGOHUM00000238284


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2740 SNPs in PRICKLE1 are shown (see all 2740)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0655804
    Epilepsy, progressive myoclonic 1B (EPM1B)4--see VAR_0655802 R H mis40--------
    VAR_0655814
    Epilepsy, progressive myoclonic 1B (EPM1B)4--see VAR_0655812 Y H mis40--------
    VAR_0546634
    Epilepsy, progressive myoclonic 1B (EPM1B)4--see VAR_0546632 R Q mis40--------
    rs1139941401,2
    Cpathogenic142705553(-) TCAGCG/AGAAGA 8 /Q /R mis11Minor allele frequency- A:0.00NA 4550
    VAR_0668574
    ----see VAR_0668572 D N mis40--------
    VAR_0668544
    ----see VAR_0668542 T M mis40--------
    VAR_0668554
    ----see VAR_0668552 R C mis40--------
    VAR_0668584
    ----see VAR_0668582 S C mis40--------
    VAR_0668514
    ----see VAR_0668512 N H mis40--------
    VAR_0668524
    ----see VAR_0668522 V I mis40--------

    HapMap Linkage Disequilibrium report for PRICKLE1 (42852140 - 42984157 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PRICKLE1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2745821CNV Deletion23290073
    esv989438CNV Deletion20482838
    nsv524513CNV Loss19592680
    nsv522388CNV Gain19592680
    nsv832388CNV Gain+Loss17160897


    Human Gene Mutation Database (HGMD): PRICKLE1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608500   
    OMIM disorders: 612437  
    UniProtKB/Swiss-Prot: PRIC1_HUMAN, Q96MT3
  • 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. 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.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • 13 diseases for PRICKLE1:    About MalaCards
    myoclonus epilepsy    progressive myoclonus epilepsy    prickle1-related progressive myoclonus epilepsy with ataxia    myoclonus
    myelomeningocele    anencephaly    strabismus    neural tube defects
    spina bifida    neuronitis    ataxia    cerebritis
    colorectal cancer

    1 disease from the University of Copenhagen DISEASES database for PRICKLE1:
    Progressive myoclonus epilepsy

    PRICKLE1 for disorders           About GeneDecksing

    GeneTests: PRICKLE1
    GeneReviews: PRICKLE1
    Genetic Association Database (GAD): PRICKLE1
    Human Genome Epidemiology (HuGE) Navigator: PRICKLE1 (3 documents)

    Export disorders for PRICKLE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRICKLE1 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with PRICKLE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 12525887)1, 2, 3, 9 Katoh M. and Katoh M. (2003)
    2. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (PubMed id 18976727)1, 2, 3, 9 Bassuk A.G....El-Shanti H.I. (2008)
    3. Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. (PubMed id 21901791)1, 2 Bosoi C.M.... Kibar Z. (2011)
    4. Mutations in prickle orthologs cause seizures in flie s, mice, and humans. (PubMed id 21276947)1, 2 Tao H....Bassuk A.G. (2011)
    5. Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. (PubMed id 19252133)1, 4 Perry J.R....Frayling T.M. (2009)
    6. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    7. Towards complete sets of farnesylated and geranylgeranylated proteins. (PubMed id 17411337)1, 2 Maurer-Stroh S....Eisenhaber F. (2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor. (PubMed id 14645515)1, 2 Shimojo M. and Hersh L.B. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 144165 HGNC: 17019 AceView: PRICKLE1.1 Ensembl:ENSG00000139174 euGenes: HUgn144165
    ECgene: PRICKLE1 Kegg: 144165 H-InvDB: PRICKLE1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRICKLE1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRICKLE1 gene:
    Search GeneIP for patents involving PRICKLE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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