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PRICKLE1 (prickle planar cell polarity protein 1)

Identity

Other namesEPM1B
RILP
HGNC (Hugo) PRICKLE1
LocusID (NCBI) 144165
Atlas_Id 46033
Location 12q12
Location_base_pair Starts at 42852140 and ends at 42877416 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PRICKLE1 (12q12) / FGD4 (12p11.21)PRICKLE1 (12q12) / SORBS1 (10q24.1)PRICKLE1 12q12 / FGD4 12p11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PRICKLE1   17019
Cards
Entrez_Gene (NCBI)PRICKLE1  144165  prickle planar cell polarity protein 1
GeneCards (Weizmann)PRICKLE1
Ensembl hg19 (Hinxton)ENSG00000139174 [Gene_View]  chr12:42852140-42877416 [Contig_View]  PRICKLE1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000139174 [Gene_View]  chr12:42852140-42877416 [Contig_View]  PRICKLE1 [Vega]
ICGC DataPortalENSG00000139174
TCGA cBioPortalPRICKLE1
AceView (NCBI)PRICKLE1
Genatlas (Paris)PRICKLE1
WikiGenes144165
SOURCE (Princeton)PRICKLE1
Genomic and cartography
GoldenPath hg19 (UCSC)PRICKLE1  -     chr12:42852140-42877416 -  12q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRICKLE1  -     12q12   [Description]    (hg38-Dec_2013)
EnsemblPRICKLE1 - 12q12 [CytoView hg19]  PRICKLE1 - 12q12 [CytoView hg38]
Mapping of homologs : NCBIPRICKLE1 [Mapview hg19]  PRICKLE1 [Mapview hg38]
OMIM608500   612437   
Gene and transcription
Genbank (Entrez)AF399844 AF543759 AF543760 AK056189 AK056499
RefSeq transcript (Entrez)NM_001144881 NM_001144882 NM_001144883 NM_153026
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_012965 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)PRICKLE1
Cluster EST : UnigeneHs.720221 [ NCBI ]
CGAP (NCI)Hs.720221
Alternative Splicing GalleryENSG00000139174
Gene ExpressionPRICKLE1 [ NCBI-GEO ]   PRICKLE1 [ EBI - ARRAY_EXPRESS ]   PRICKLE1 [ SEEK ]   PRICKLE1 [ MEM ]
Gene Expression Viewer (FireBrowse)PRICKLE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)144165
GTEX Portal (Tissue expression)PRICKLE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96MT3 (Uniprot)
NextProtQ96MT3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96MT3
Splice isoforms : SwissVarQ96MT3 (Swissvar)
PhosPhoSitePlusQ96MT3
Domaine pattern : Prosite (Expaxy)LIM_DOMAIN_1 (PS00478)    LIM_DOMAIN_2 (PS50023)    PET (PS51303)   
Domains : Interpro (EBI)PET_domain    Znf_LIM   
Domain families : Pfam (Sanger)LIM (PF00412)    PET (PF06297)   
Domain families : Pfam (NCBI)pfam00412    pfam06297   
Domain families : Smart (EMBL)LIM (SM00132)  
DMDM Disease mutations144165
Blocks (Seattle)PRICKLE1
SuperfamilyQ96MT3
Human Protein AtlasENSG00000139174
Peptide AtlasQ96MT3
HPRD16341
IPIIPI00043363   IPI01021615   IPI01021774   IPI01021308   
Protein Interaction databases
DIP (DOE-UCLA)Q96MT3
IntAct (EBI)Q96MT3
FunCoupENSG00000139174
BioGRIDPRICKLE1
STRING (EMBL)PRICKLE1
ZODIACPRICKLE1
Ontologies - Pathways
QuickGOQ96MT3
Ontology : AmiGOneural tube closure  protein binding  nucleus  cytosol  cytosol  protein import into nucleus  protein import into nucleus  transcription factor binding  zinc ion binding  positive regulation of protein ubiquitination  nuclear membrane  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  aorta development  negative regulation of transcription, DNA-templated  Wnt signaling pathway, planar cell polarity pathway  Wnt signaling pathway, planar cell polarity pathway  coronary vasculature development  negative regulation of canonical Wnt signaling pathway  negative regulation of cardiac muscle cell myoblast differentiation  
Ontology : EGO-EBIneural tube closure  protein binding  nucleus  cytosol  cytosol  protein import into nucleus  protein import into nucleus  transcription factor binding  zinc ion binding  positive regulation of protein ubiquitination  nuclear membrane  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  aorta development  negative regulation of transcription, DNA-templated  Wnt signaling pathway, planar cell polarity pathway  Wnt signaling pathway, planar cell polarity pathway  coronary vasculature development  negative regulation of canonical Wnt signaling pathway  negative regulation of cardiac muscle cell myoblast differentiation  
Pathways : KEGGWnt signaling pathway   
NDEx Network
Atlas of Cancer Signalling NetworkPRICKLE1
Wikipedia pathwaysPRICKLE1
Orthology - Evolution
OrthoDB144165
GeneTree (enSembl)ENSG00000139174
Phylogenetic Trees/Animal Genes : TreeFamPRICKLE1
Homologs : HomoloGenePRICKLE1
Homology/Alignments : Family Browser (UCSC)PRICKLE1
Gene fusions - Rearrangements
Fusion: TCGAPRICKLE1 12q12 FGD4 12p11.21 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerPRICKLE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRICKLE1
dbVarPRICKLE1
ClinVarPRICKLE1
1000_GenomesPRICKLE1 
Exome Variant ServerPRICKLE1
ExAC (Exome Aggregation Consortium)PRICKLE1 (select the gene name)
Genetic variants : HAPMAP144165
Genomic Variants (DGV)PRICKLE1 [DGVbeta]
Mutations
ICGC Data PortalPRICKLE1 
TCGA Data PortalPRICKLE1 
Broad Tumor PortalPRICKLE1
OASIS PortalPRICKLE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRICKLE1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch PRICKLE1
DgiDB (Drug Gene Interaction Database)PRICKLE1
DoCM (Curated mutations)PRICKLE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRICKLE1 (select a term)
intoGenPRICKLE1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:42852140-42877416  ENSG00000139174
CONAN: Copy Number AnalysisPRICKLE1 
Mutations and Diseases : HGMDPRICKLE1
OMIM608500    612437   
MedgenPRICKLE1
Genetic Testing Registry PRICKLE1
NextProtQ96MT3 [Medical]
TSGene144165
GENETestsPRICKLE1
Huge Navigator PRICKLE1 [HugePedia]
snp3D : Map Gene to Disease144165
BioCentury BCIQPRICKLE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD144165
Chemical/Pharm GKB GenePA134906946
Clinical trialPRICKLE1
Miscellaneous
canSAR (ICR)PRICKLE1 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRICKLE1
EVEXPRICKLE1
GoPubMedPRICKLE1
iHOPPRICKLE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 8 19:01:47 CEST 2016

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