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

Gene ID: 144165, updated on 30-Jun-2015
Official Symbol
PRICKLE1provided by HGNC
Official Full Name
prickle homolog 1 (Drosophila)provided by HGNC
Primary source
HGNC: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]
Orthologs
See PRICKLE1 in Epigenomics, MapViewer
Location:
12q12
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC101927058 Neighboring gene uncharacterized LOC105369738 Neighboring gene CDGSH iron sulfur domain 1 pseudogene

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
  • Proteasome, organism-specific biosystem (from KEGG)
    Proteasome, organism-specific biosystemThe proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processin...
  • Proteasome, organism-specific biosystem (from KEGG)
    Proteasome, organism-specific biosystemThe proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processin...
  • Proteasome, organism-specific biosystem (from KEGG)
    Proteasome, organism-specific biosystemThe proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processin...
  • Proteasome, organism-specific biosystem (from KEGG)
    Proteasome, organism-specific biosystemThe proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processin...
  • Proteasome, organism-specific biosystem (from KEGG)
    Proteasome, organism-specific biosystemThe proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processin...
  • Proteasome, organism-specific biosystem (from KEGG)
    Proteasome, organism-specific biosystemThe proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processin...
  • Proteasome, organism-specific biosystem (from KEGG)
    Proteasome, organism-specific biosystemThe proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processin...
Products Interactant Other Gene Complex Source Pubs Description

Markers

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 
transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
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
REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein
REST/NRSF-interacting LIM domain protein 1
prickle-like 1

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

mRNA and Protein(s)

  1. NM_001144881.1NP_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/TrEMBL
    A0A024R0W7
    UniProtKB/TrEMBL
    B3KVG3
    UniProtKB/Swiss-Prot
    Q96MT3
    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_001144882.1NP_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/TrEMBL
    A0A024R0W7
    UniProtKB/Swiss-Prot
    Q96MT3
    Related
    ENSP00000401060, ENST00000455697
    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_001144883.1NP_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/TrEMBL
    A0A024R0W7
    UniProtKB/TrEMBL
    B3KVG6
    UniProtKB/Swiss-Prot
    Q96MT3
    Related
    ENSP00000448359, OTTHUMP00000241123, ENST00000548696, OTTHUMT00000404067
    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_153026.2NP_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/TrEMBL
    A0A024R0W7
    UniProtKB/Swiss-Prot
    Q96MT3
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011537947.1XP_011536249.1  

    See identical proteins and their annotated locations for XP_011536249.1

    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_011537946.1XP_011536248.1  

    See identical proteins and their annotated locations for XP_011536248.1

    Related
    ENSP00000398947, OTTHUMP00000241122, ENST00000445766, OTTHUMT00000404066
    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 CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

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