Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
144165
Gene name Gene Name - the full gene name approved by the HGNC.
Prickle planar cell polarity protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRICKLE1
Synonyms (NCBI Gene) Gene synonyms aliases
EPM1B, RILP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EPM1B
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001843 Process Neural tube closure IMP 21901791
GO:0005515 Function Protein binding IPI 14645515, 16417580, 16442230, 17030191, 18922795, 18976727, 25416956, 25910212, 32296183
GO:0005634 Component Nucleus IDA 14645515, 16417580, 18922795
GO:0005829 Component Cytosol IDA 14645515, 18922795
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608500 17019 ENSG00000139174
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Proteasome-associated autoinflammatory syndrome Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia rs387906680, rs146254972, rs1555257073, rs1554239543, rs1553209362, rs1553209373, rs1555257075, rs1555257076, rs748082671 21276947, 18976727
Myoclonic epilepsy Unverricht-Lundborg disease, Unverricht-Lundborg Syndrome rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629
View all (378 more)
18976727
Unknown
Disease term Disease name Evidence References Source
Epilepsy epilepsy, progressive myoclonic, 1B, progressive myoclonus epilepsy, epilepsy GenCC
Myoclonic Epilepsy Unverricht-Lundborg syndrome GenCC
Multiple Sclerosis Multiple Sclerosis GWAS
Associations from Text Mining
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