Property Summary

NCBI Gene PubMed Count 28
PubMed Score 18.97
PubTator Score 14.36

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (8)

Disease Target Count P-value
glioblastoma multiforme 347 6.93863151760016E-16
lung adenocarcinoma 2714 1.66051485241664E-9
osteosarcoma 7933 4.42963540279769E-9
medulloblastoma, large-cell 6234 1.04698008620968E-4
atypical teratoid / rhabdoid tumor 4369 1.93024007884966E-4
ependymoma 2514 2.08154681403666E-4
pituitary cancer 1972 2.50538775391894E-4
Breast cancer 3099 4.72593965527999E-4
primitive neuroectodermal tumor 3031 0.00179059078687845
adult high grade glioma 2148 0.00228621970600124
astrocytic glioma 2241 0.00299095623519042
ovarian cancer 8492 0.00338397563350573
group 3 medulloblastoma 2254 0.00399075658283106
primary pancreatic ductal adenocarcinoma 1271 0.00532262390959129
pilocytic astrocytoma 3086 0.00791030055476042
oligodendroglioma 2849 0.0281508029197234
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0483859574602661
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Rheumatoid Arthritis 1171 0.0 1.0
Disease Target Count Z-score Confidence
Epilepsy 346 3.054 1.5
Disease Target Count Z-score Confidence
Robinow syndrome 12 3.354 1.7
Synpolydactyly 4 3.079 1.5

Expression

  Differential Expression (17)

Synonym

Accession Q96MT3 Q14C83 Q71QF8 Q96N00
Symbols RILP
EPM1B

Gene

  Ortholog (11)

 GO Function (1)

Gene RIF (14)

PMID Text
24312498 these findings suggest PRICKLE1 mutations contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles.
22037766 MINK1 interacts with and phosphorylates PRICKLE1 and PRICKLE2.
21901791 study demonstrates that PRICKLE1 could act as a predisposing factor to human neural tube defects
21276947 Mutations in prickle1 causes seizures.
20842693 PRICKLE1 mutations are not a frequent cause of progressive myoclous epilepsies in Southern Italy.
19834535 Observational study of gene-disease association. (HuGE Navigator)
19252133 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18976727 A homozygous mutation in PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
17709376 there is synergism between REST and NFkappaB in the suppression of TAC1 in non-neuronal cells
17030191 Prickle-1 is a negative regulator of the Wnt/beta-catenin signaling pathway and is a putative tumor suppressor in human hepatocellular carcinoma
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AA Sequence

MPLEMEPKMSKLAFGCQRSSTSDDDSGCALEEYAWVPPGLRPEQIQLYFACLPEEKVPYVNSPGEKHRIK      1 - 70
QLLYQLPPHDNEVRYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRAVMHAVCEQCGLKINGGEVAV     71 - 140
FASRAGPGVCWHPSCFVCFTCNELLVDLIYFYQDGKIHCGRHHAELLKPRCSACDEIIFADECTEAEGRH    141 - 210
WHMKHFCCLECETVLGGQRYIMKDGRPFCCGCFESLYAEYCETCGEHIGVDHAQMTYDGQHWHATEACFS    211 - 280
CAQCKASLLGCPFLPKQGQIYCSKTCSLGEDVHASDSSDSAFQSARSRDSRRSVRMGKSSRSADQCRQSL    281 - 350
LLSPALNYKFPGLSGNADDTLSRKLDDLSLSRQGTSFASEEFWKGRVEQETPEDPEEWADHEDYMTQLLL    351 - 420
KFGDKSLFQPQPNEMDIRASEHWISDNMVKSKTELKQNNQSLASKKYQSDMYWAQSQDGLGDSAYGSHPG    421 - 490
PASSRRLQELELDHGASGYNHDETQWYEDSLECLSDLKPEQSVRDSMDSLALSNITGASVDGENKPRPSL    491 - 560
YSLQNFEEMETEDCEKMSNMGTLNSSMLHRSAESLKSLSSELCPEKILPEEKPVHLPVLRRSKSQSRPQQ    561 - 630
VKFSDDVIDNGNYDIEIRQPPMSERTRRRVYNFEERGSRSHHHRRRRSRKSRSDNALNLVTERKYSPKDR    631 - 700
LRLYTPDNYEKFIQNKSAREIQAYIQNADLYGQYAHATSDYGLQNPGMNRFLGLYGEDDDSWCSSSSSSS    701 - 770
DSEEEGYFLGQPIPQPRPQRFAYYTDDLSSPPSALPTPQFGQRTTKSKKKKGHKGKNCIIS             771 - 831
//

Text Mined References (28)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24431302 2014 Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease.
24312498 2013 PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
22037766 2012 Mink1 regulates ?-catenin-independent Wnt signaling via Prickle phosphorylation.
21901791 2011 Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21276947 2011 Mutations in prickle orthologs cause seizures in flies, mice, and humans.
21199191 2011 RE1-silencing transcription factor (REST) and REST-interacting LIM domain protein (RILP) affect P19CL6 differentiation.
20842693 2010 PRICKLE1 progressive myoclonus epilepsy in Southern Italy.
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