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

    Gene ID: 144165, updated on 3-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRICKLE1 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (42456757..42589746, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (42414615..42547546, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (42850559..42983548, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene periphilin 1 Neighboring gene RNA, U6 small nuclear 249, pseudogene Neighboring gene FMR1 autosomal homolog 1 pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:42858567-42859766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6215 Neighboring gene MPRA-validated peak1687 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:42875079-42875690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4366 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:42877741-42878649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4365 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:42879439-42880178 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:42904440-42905187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:42946987-42947486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:42984271-42984828 Neighboring gene NANOG hESC enhancer GRCh37_chr12:42996970-42997470 Neighboring gene NANOG hESC enhancer GRCh37_chr12:42997471-42997971 Neighboring gene MPRA-validated peak1688 silencer Neighboring gene long intergenic non-protein coding RNA 2402 Neighboring gene CDGSH iron sulfur domain 1 pseudogene Neighboring gene long intergenic non-protein coding RNA 2451 Neighboring gene ribosomal protein S27 pseudogene 21

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 planar cell polarity pathway involved in axis elongation 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 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 nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of proteasome complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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

    1. NG_012965.1 RefSeqGene

      Range
      5025..138014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144881.2NP_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:189244
      LIM2_Prickle; The second LIM domain of Prickle
      cd09420
      Location:249307
      LIM3_Prickle; The third LIM domain of Prickle
      cd09483
      Location:126184
      LIM1_Prickle_1; The first LIM domain of Prickle 1
      cd09827
      Location:22118
      PET_Prickle; The PET domain of Prickle
    2. NM_001144882.2NP_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:189244
      LIM2_Prickle; The second LIM domain of Prickle
      cd09420
      Location:249307
      LIM3_Prickle; The third LIM domain of Prickle
      cd09483
      Location:126184
      LIM1_Prickle_1; The first LIM domain of Prickle 1
      cd09827
      Location:22118
      PET_Prickle; The PET domain of Prickle
    3. NM_001144883.2NP_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:189244
      LIM2_Prickle; The second LIM domain of Prickle
      cd09420
      Location:249307
      LIM3_Prickle; The third LIM domain of Prickle
      cd09483
      Location:126184
      LIM1_Prickle_1; The first LIM domain of Prickle 1
      cd09827
      Location:22118
      PET_Prickle; The PET domain of Prickle
    4. NM_153026.3NP_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:189244
      LIM2_Prickle; The second LIM domain of Prickle
      cd09420
      Location:249307
      LIM3_Prickle; The third LIM domain of Prickle
      cd09483
      Location:126184
      LIM1_Prickle_1; The first LIM domain of Prickle 1
      cd09827
      Location:22118
      PET_Prickle; The PET domain of Prickle

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      42456757..42589746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537947.3XP_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:189244
      LIM2_Prickle; The second LIM domain of Prickle
      cd09420
      Location:249307
      LIM3_Prickle; The third LIM domain of Prickle
      cd09483
      Location:126184
      LIM1_Prickle_1; The first LIM domain of Prickle 1
      cd09827
      Location:22118
      PET_Prickle; The PET domain of Prickle
    2. XM_017018840.2XP_016874329.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
      UniProtKB/TrEMBL
      B3KVG3
      Conserved Domains (4) summary
      cd09418
      Location:189244
      LIM2_Prickle; The second LIM domain of Prickle
      cd09420
      Location:249307
      LIM3_Prickle; The third LIM domain of Prickle
      cd09483
      Location:126184
      LIM1_Prickle_1; The first LIM domain of Prickle 1
      cd09827
      Location:22118
      PET_Prickle; The PET domain of Prickle
    3. XM_047428327.1XP_047284283.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    4. XM_047428335.1XP_047284291.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    5. XM_011537946.2XP_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:189244
      LIM2_Prickle; The second LIM domain of Prickle
      cd09420
      Location:249307
      LIM3_Prickle; The third LIM domain of Prickle
      cd09483
      Location:126184
      LIM1_Prickle_1; The first LIM domain of Prickle 1
      cd09827
      Location:22118
      PET_Prickle; The PET domain of Prickle
    6. XM_047428334.1XP_047284290.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    7. XM_047428329.1XP_047284285.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    8. XM_047428333.1XP_047284289.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
      Related
      ENSP00000492763.1, ENST00000640055.1
    9. XM_047428328.1XP_047284284.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
      Related
      ENSP00000401060.1, ENST00000455697.6
    10. XM_047428330.1XP_047284286.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    11. XM_017018838.2XP_016874327.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
      UniProtKB/TrEMBL
      B3KVG3
      Conserved Domains (4) summary
      cd09418
      Location:189244
      LIM2_Prickle; The second LIM domain of Prickle
      cd09420
      Location:249307
      LIM3_Prickle; The third LIM domain of Prickle
      cd09483
      Location:126184
      LIM1_Prickle_1; The first LIM domain of Prickle 1
      cd09827
      Location:22118
      PET_Prickle; The PET domain of Prickle
    12. XM_047428332.1XP_047284288.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    13. XM_017018839.2XP_016874328.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
      UniProtKB/TrEMBL
      B3KVG3
      Conserved Domains (4) summary
      cd09418
      Location:189244
      LIM2_Prickle; The second LIM domain of Prickle
      cd09420
      Location:249307
      LIM3_Prickle; The third LIM domain of Prickle
      cd09483
      Location:126184
      LIM1_Prickle_1; The first LIM domain of Prickle 1
      cd09827
      Location:22118
      PET_Prickle; The PET domain of Prickle

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      42414615..42547546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371152.1XP_054227127.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    2. XM_054371153.1XP_054227128.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    3. XM_054371150.1XP_054227125.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    4. XM_054371160.1XP_054227135.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    5. XM_054371156.1XP_054227131.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    6. XM_054371159.1XP_054227134.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    7. XM_054371157.1XP_054227132.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    8. XM_054371155.1XP_054227130.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    9. XM_054371158.1XP_054227133.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    10. XM_054371161.1XP_054227136.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    11. XM_054371151.1XP_054227126.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    12. XM_054371154.1XP_054227129.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00
    13. XM_054371162.1XP_054227137.1  prickle-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14C83, Q71QF8, Q96MT3, Q96N00