ID  Q96MT3;
PN  Prickle-like protein 1;
GN  PRICKLE1;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0182;
SL  Comments: Nucleus membrane {ECO:0000269|PubMed:14645515}. Cytoplasm, cytosol {ECO:0000269|PubMed:14645515}. Note=A smaller amount is detected in the cytosol.
DR  UNIPROT: Q96MT3;
DR  UNIPROT: Q14C83;
DR  UNIPROT: Q71QF8;
DR  UNIPROT: Q96N00;
DR  Pfam: PF00412;
DR  Pfam: PF06297;
DR  PROSITE: PS00478;
DR  PROSITE: PS50023;
DR  PROSITE: PS51303;
DR  OMIM: 182940;
DR  OMIM: 608500;
DR  OMIM: 612437;
DR  DisGeNET: 144165;
DE  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 intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor. {ECO:0000269|PubMed:21901791}.
DE  Disease: Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]: A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1B is an autosomal recessive form characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia. {ECO:0000269|PubMed:18976727, ECO:0000269|PubMed:21276947}. Note=The disease is caused by variants affecting the gene represented in this entry. Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269|PubMed:21901791}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: A2A5Z6; IntAct: EBI-2348682; Score: 0.40
DE  Interaction: O14641; IntAct: EBI-2348709; Score: 0.40
DE  Interaction: Q9Z101; IntAct: EBI-2348721; Score: 0.40
DE  Interaction: A6NK89; IntAct: EBI-6912271; Score: 0.35
DE  Interaction: Q92997; IntAct: EBI-8850502; Score: 0.40
DE  Interaction: Q8WWY3; IntAct: EBI-10177598; Score: 0.72
DE  Interaction: Q08E77; IntAct: EBI-10226027; Score: 0.56
DE  Interaction: Q8VIG1; IntAct: EBI-10684914; Score: 0.59
DE  Interaction: Q9HAQ2; IntAct: EBI-24796299; Score: 0.56
DE  Interaction: O75564; IntAct: EBI-24396853; Score: 0.56
DE  Interaction: Q13895; IntAct: EBI-24790662; Score: 0.56
DE  Interaction: Q5TAP6; IntAct: EBI-22147248; Score: 0.37
GO  GO:0005829;
GO  GO:0031965;
GO  GO:0005634;
GO  GO:0008270;
GO  GO:0035904;
GO  GO:0060976;
GO  GO:0090090;
GO  GO:2000691;
GO  GO:0045892;
GO  GO:0001843;
GO  GO:0032436;
GO  GO:0031398;
GO  GO:0006606;
GO  GO:0060071;
TP  Membrane Topology: Lipid-Anchored; Source: UniProt - Experimental Evidence {ECO:0000269|PubMed:14645515,};
SQ  MPLEMEPKMSKLAFGCQRSSTSDDDSGCALEEYAWVPPGLRPEQIQLYFACLPEEKVPYVNSPGEKHRIKQLLYQLPPHD
SQ  NEVRYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRAVMHAVCEQCGLKINGGEVAVFASRAGPGVCWHPSCFVCFT
SQ  CNELLVDLIYFYQDGKIHCGRHHAELLKPRCSACDEIIFADECTEAEGRHWHMKHFCCLECETVLGGQRYIMKDGRPFCC
SQ  GCFESLYAEYCETCGEHIGVDHAQMTYDGQHWHATEACFSCAQCKASLLGCPFLPKQGQIYCSKTCSLGEDVHASDSSDS
SQ  AFQSARSRDSRRSVRMGKSSRSADQCRQSLLLSPALNYKFPGLSGNADDTLSRKLDDLSLSRQGTSFASEEFWKGRVEQE
SQ  TPEDPEEWADHEDYMTQLLLKFGDKSLFQPQPNEMDIRASEHWISDNMVKSKTELKQNNQSLASKKYQSDMYWAQSQDGL
SQ  GDSAYGSHPGPASSRRLQELELDHGASGYNHDETQWYEDSLECLSDLKPEQSVRDSMDSLALSNITGASVDGENKPRPSL
SQ  YSLQNFEEMETEDCEKMSNMGTLNSSMLHRSAESLKSLSSELCPEKILPEEKPVHLPVLRRSKSQSRPQQVKFSDDVIDN
SQ  GNYDIEIRQPPMSERTRRRVYNFEERGSRSHHHRRRRSRKSRSDNALNLVTERKYSPKDRLRLYTPDNYEKFIQNKSARE
SQ  IQAYIQNADLYGQYAHATSDYGLQNPGMNRFLGLYGEDDDSWCSSSSSSSDSEEEGYFLGQPIPQPRPQRFAYYTDDLSS
SQ  PPSALPTPQFGQRTTKSKKKKGHKGKNCIIS
//