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

Gene ID: 144165, updated on 10-Oct-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
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Genomic context

See PRICKLE1 in Genome Data Viewer
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_000012.12Genomic 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 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 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

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_2024_08

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