Gene Gene information from NCBI Gene database.
Entrez ID 144165
Gene name Prickle planar cell polarity protein 1
Gene symbol PRICKLE1
Synonyms (NCBI Gene)
EPM1BRILP
Chromosome 12
Chromosome location 12q12
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/
SNPs SNP information provided by dbSNP.
12
SNP ID Visualize variation Clinical significance Consequence
rs79087668 C>T Benign, benign-likely-benign, pathogenic Coding sequence variant, missense variant
rs113994140 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs116197349 G>A,C Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance Coding sequence variant, synonymous variant, missense variant
rs138452760 G>A Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs141743294 C>T Conflicting-interpretations-of-pathogenicity, benign, likely-benign Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
508
miRTarBase ID miRNA Experiments Reference
MIRT024610 hsa-miR-215-5p Microarray 19074876
MIRT026529 hsa-miR-192-5p Microarray 19074876
MIRT050925 hsa-miR-17-5p CLASH 23622248
MIRT680736 hsa-miR-1910-3p HITS-CLIP 23706177
MIRT680735 hsa-miR-6511a-5p HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
84
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IEA
GO:0001843 Process Neural tube closure IEA
GO:0001843 Process Neural tube closure IMP 21901791
GO:0001894 Process Tissue homeostasis IEA
GO:0003151 Process Outflow tract morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608500 17019 ENSG00000139174
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96MT3
Protein name Prickle-like protein 1 (REST/NRSF-interacting LIM domain protein 1)
Protein function Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06297 PET 31 115 PET Domain Domain
PF00412 LIM 126 186 LIM domain Domain
PF00412 LIM 191 247 LIM domain Domain
PF00412 LIM 251 309 LIM domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at highest levels in placenta and at lower levels in lung, liver, kidney and pancreas. Expressed in thalamus, hippocampus, cerebral cortex, and cerebellum (in neurons rather than glia). {ECO:0000269|PubMed:12525887, ECO:00002
Sequence
MPLEMEPKMSKLAFGCQRSSTSDDDSGCALEEYAWVPPGLRPEQIQLYFACLPEEKVPYV
NSPGEKHRIKQLLYQLPPHDNEVRYCQSLSEEEKKELQVFSAQRKKEALGRGTIK
LLSRA
VMHAVCEQCGLKINGGEVAVFASRAGPGVCWHPSCFVCFTCNELLVDLIYFYQDGKIHCG
RHHAEL
LKPRCSACDEIIFADECTEAEGRHWHMKHFCCLECETVLGGQRYIMKDGRPFCC
GCFESLY
AEYCETCGEHIGVDHAQMTYDGQHWHATEACFSCAQCKASLLGCPFLPKQGQI
YCSKTCSLG
EDVHASDSSDSAFQSARSRDSRRSVRMGKSSRSADQCRQSLLLSPALNYKF
PGLSGNADDTLSRKLDDLSLSRQGTSFASEEFWKGRVEQETPEDPEEWADHEDYMTQLLL
KFGDKSLFQPQPNEMDIRASEHWISDNMVKSKTELKQNNQSLASKKYQSDMYWAQSQDGL
GDSAYGSHPGPASSRRLQELELDHGASGYNHDETQWYEDSLECLSDLKPEQSVRDSMDSL
ALSNITGASVDGENKPRPSLYSLQNFEEMETEDCEKMSNMGTLNSSMLHRSAESLKSLSS
ELCPEKILPEEKPVHLPVLRRSKSQSRPQQVKFSDDVIDNGNYDIEIRQPPMSERTRRRV
YNFEERGSRSHHHRRRRSRKSRSDNALNLVTERKYSPKDRLRLYTPDNYEKFIQNKSARE
IQAYIQNADLYGQYAHATSDYGLQNPGMNRFLGLYGEDDDSWCSSSSSSSDSEEEGYFLG
QPIPQPRPQRFAYYTDDLSSPPSALPTPQFGQRTTKSKKKKGHKGKNCIIS
Sequence length 831
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Wnt signaling pathway   Asymmetric localization of PCP proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
538
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Epilepsy, progressive myoclonic, 1B Likely pathogenic; Pathogenic rs113994140, rs281865564 RCV000002373
RCV000023708
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs34778200 RCV005889229
Arthrogryposis multiplex congenita Uncertain significance rs1593100937 RCV000855498
Cervical cancer - rs12658 RCV006066300
Fetal akinesia deformation sequence 1 Uncertain significance rs1593100937 RCV000855498
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 27245242
Agenesis of Corpus Callosum Associate 26727662
Ataxia Associate 18976727
Autism Spectrum Disorder Associate 29790814
Breast Neoplasms Associate 26939613, 27184734
Colonic Neoplasms Associate 27245242
Colorectal Neoplasms Associate 27245242
Developmental Disabilities Associate 29790814
Diabetes Mellitus Type 2 Associate 19252133
Epilepsies Myoclonic Associate 26727662, 29790814