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PRICKLE1 prickle homolog 1 (Drosophila) [ Homo sapiens (human) ]

Gene ID: 144165, updated on 7-Aug-2014
Official Symbol
PRICKLE1provided by HGNC
Official Full Name
prickle homolog 1 (Drosophila)provided by HGNC
Primary source
HGNC:17019
See related
Ensembl:ENSG00000139174; HPRD:16341; MIM:608500; Vega:OTTHUMG00000169443
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]
See PRICKLE1 in Epigenomics, MapViewer
Location:
12q12
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (42458338..42589770, 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 zinc finger CCHC-type and RNA binding motif 1 Neighboring gene microRNA 7851 Neighboring gene periphilin 1 Neighboring gene fragile X mental retardation, autosomal homolog 1 pseudogene Neighboring gene uncharacterized LOC102723735 Neighboring gene uncharacterized LOC101927058 Neighboring gene CDGSH iron sulfur domain 1 pseudogene Neighboring gene ribosomal protein S27 pseudogene 21

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • Asymmetric localization of PCP proteins, organism-specific biosystem (from REACTOME)
    Asymmetric localization of PCP proteins, organism-specific biosystemOne of the hallmarks of the Planar Cell Polarity pathway is the asymmetric distribution of proteins on opposite membranes of a single cell. In Drosophila, Stbm and Pk (homologues to the human VANGL1/...
  • PCP/CE pathway, organism-specific biosystem (from REACTOME)
    PCP/CE pathway, organism-specific biosystemThe planar cell polarity (PCP) pathway controls the establishment of polarity within the plane of a sheet of cells. PCP was initially characterized in Drosophila, where it controls the arrangement o...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • Wnt signaling pathway, organism-specific biosystem (from KEGG)
    Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt signaling pathway, conserved biosystem (from KEGG)
    Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
    beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
Products Interactant Other Gene Complex Source Pubs Description

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 
Preferred Names
prickle-like protein 1
Names
prickle-like protein 1
prickle-like 1
REST/NRSF-interacting LIM domain protein 1
REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein

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 

    Range
    5001..136433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001144881.1NP_001138353.1  prickle-like protein 1

    See proteins identical to 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/TrEMBL
    B3KVG3
    UniProtKB/Swiss-Prot
    Q96MT3
    Conserved Domains (4) summary
    cd09418
    Location:189244
    Blast Score: 335
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:249307
    Blast Score: 339
    LIM3_Prickle; The third LIM domain of Prickle
    cd09483
    Location:126184
    Blast Score: 365
    LIM1_Prickle_1; The first LIM domain of Prickle 1
    cd09827
    Location:22118
    Blast Score: 535
    PET_Prickle; The PET domain of Prickle
  2. NM_001144882.1NP_001138354.1  prickle-like protein 1

    See proteins identical to 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
    Related
    ENSP00000401060, ENST00000455697
    Conserved Domains (4) summary
    cd09418
    Location:189244
    Blast Score: 335
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:249307
    Blast Score: 339
    LIM3_Prickle; The third LIM domain of Prickle
    cd09483
    Location:126184
    Blast Score: 365
    LIM1_Prickle_1; The first LIM domain of Prickle 1
    cd09827
    Location:22118
    Blast Score: 535
    PET_Prickle; The PET domain of Prickle
  3. NM_001144883.1NP_001138355.1  prickle-like protein 1

    See proteins identical to 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/TrEMBL
    B3KVG6
    UniProtKB/Swiss-Prot
    Q96MT3
    Related
    ENSP00000448359, OTTHUMP00000241123, ENST00000548696, OTTHUMT00000404067
    Conserved Domains (4) summary
    cd09418
    Location:189244
    Blast Score: 335
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:249307
    Blast Score: 339
    LIM3_Prickle; The third LIM domain of Prickle
    cd09483
    Location:126184
    Blast Score: 365
    LIM1_Prickle_1; The first LIM domain of Prickle 1
    cd09827
    Location:22118
    Blast Score: 535
    PET_Prickle; The PET domain of Prickle
  4. NM_153026.2NP_694571.2  prickle-like protein 1

    See proteins identical to 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
    Conserved Domains (4) summary
    cd09418
    Location:189244
    Blast Score: 335
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:249307
    Blast Score: 339
    LIM3_Prickle; The third LIM domain of Prickle
    cd09483
    Location:126184
    Blast Score: 365
    LIM1_Prickle_1; The first LIM domain of Prickle 1
    cd09827
    Location:22118
    Blast Score: 535
    PET_Prickle; The PET domain of Prickle

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    42458338..42589770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    39878936..40010599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    42818791..42950331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)