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

Gene ID: 144165, updated on 1-Aug-2020

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
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

Genomic context

See PRICKLE1 in Genome Data Viewer
Location:
12q12
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (42456757..42589755, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (42852140..42983572, 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 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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31627, FLJ31937, MGC138902, MGC138903

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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)

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
    Q96MT3
    UniProtKB/TrEMBL
    A0A024R0W7, 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
    Q96MT3
    UniProtKB/TrEMBL
    A0A024R0W7
    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
    Q96MT3
    UniProtKB/TrEMBL
    A0A024R0W7, B3KVG6
    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
    Q96MT3
    UniProtKB/TrEMBL
    A0A024R0W7
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    42456757..42589755 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537947.2XP_011536249.1  prickle-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011536249.1

    UniProtKB/Swiss-Prot
    Q96MT3
    UniProtKB/TrEMBL
    A0A024R0W7
    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_017018840.1XP_016874329.1  prickle-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96MT3
    UniProtKB/TrEMBL
    A0A024R0W7
    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_011537946.1XP_011536248.1  prickle-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011536248.1

    UniProtKB/Swiss-Prot
    Q96MT3
    UniProtKB/TrEMBL
    A0A024R0W7
    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
  4. XM_017018838.1XP_016874327.1  prickle-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96MT3
    UniProtKB/TrEMBL
    A0A024R0W7
    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
  5. XM_017018839.1XP_016874328.1  prickle-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96MT3
    UniProtKB/TrEMBL
    A0A024R0W7
    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
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