PRICKLE1
entrez
144165
canonical
uniprot
Q96MT3
canonical
ensembl
ENSG00000139174
resolver
ensp
ENSP00000345064
resolver
ensp
ENSP00000398947
resolver
ensp
ENSP00000401060
resolver
ensp
ENSP00000448359
resolver
ensp
ENSP00000449819
resolver
ensp
ENSP00000491051
resolver
ensp
ENSP00000491228
resolver
ensp
ENSP00000492332
resolver
ensp
ENSP00000492644
resolver
ensp
ENSP00000492763
resolver
ensp
ENSP00000570014
resolver
ensp
ENSP00000570016
resolver
ensp
ENSP00000570018
resolver
ensp
ENSP00000570019
resolver
ensp
ENSP00000570020
resolver
ensp
ENSP00000570021
resolver
ensp
ENSP00000570022
resolver
ensp
ENSP00000584425
resolver
ensp
ENSP00000584428
resolver
ensp
ENSP00000584431
resolver
ensp
ENSP00000615700
resolver
ensp
ENSP00000615703
resolver
enst
ENST00000345127
resolver
enst
ENST00000445766
resolver
enst
ENST00000455697
resolver
enst
ENST00000548696
resolver
enst
ENST00000552240
resolver
enst
ENST00000639566
resolver
enst
ENST00000639589
resolver
enst
ENST00000639958
resolver
enst
ENST00000640055
resolver
enst
ENST00000640132
resolver
enst
ENST00000899955
resolver
enst
ENST00000899957
resolver
enst
ENST00000899959
resolver
enst
ENST00000899960
resolver
enst
ENST00000899961
resolver
enst
ENST00000899962
resolver
enst
ENST00000899963
resolver
enst
ENST00000914366
resolver
enst
ENST00000914369
resolver
enst
ENST00000914372
resolver
enst
ENST00000945641
resolver
enst
ENST00000945644
resolver
genesymbol
PRICKLE1
resolver
genesymbol_syn
RILP
resolver
hgnc
HGNC:17019
resolver
uniprot
B3KVG3
resolver
uniprot
B3KVG6
resolver
uniprot
Q14C83
resolver
uniprot
Q71QF8
resolver
uniprot
Q96N00
resolver
uniprot_entry
B3KVG3_HUMAN
resolver
uniprot_entry
B3KVG6_HUMAN
resolver
uniprot_entry
PRIC1_HUMAN
resolver
uniprot_sec
Q14C83
resolver
uniprot_sec
Q71QF8
resolver
uniprot_sec
Q96N00
resolver
amino_acid_sequence
MPLEMEPKMSKLAFGCQRSSTSDDDSGCALEEYAWVPPGLRPEQIQLYFACLPEEKVPYVNSPGEKHRIKQLLYQLPPHDNEVRYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRAVMHAVCEQCGLKINGGEVAVFASRAGPGVCWHPSCFVCFTCNELLVDLIYFYQDGKIHCGRHHAELLKPRCSACDEIIFADECTEAEGRHWHMKHFCCLECETVLGGQRYIMKDGRPFCCGCFESLYAEYCETCGEHIGVDHAQMTYDGQHWHATEACFSCAQCKASLLGCPFLPKQGQIYCSKTCSLGEDVHASDSSDSAFQSARSRDSRRSVRMGKSSRSADQCRQSLLLSPALNYKFPGLSGNADDTLSRKLDDLSLSRQGTSFASEEFWKGRVEQETPEDPEEWADHEDYMTQLLLKFGDKSLFQPQPNEMDIRASEHWISDNMVKSKTELKQNNQSLASKKYQSDMYWAQSQDGLGDSAYGSHPGPASSRRLQELELDHGASGYNHDETQWYEDSLECLSDLKPEQSVRDSMDSLALSNITGASVDGENKPRPSLYSLQNFEEMETEDCEKMSNMGTLNSSMLHRSAESLKSLSSELCPEKILPEEKPVHLPVLRRSKSQSRPQQVKFSDDVIDNGNYDIEIRQPPMSERTRRRVYNFEERGSRSHHHRRRRSRKSRSDNALNLVTERKYSPKDRLRLYTPDNYEKFIQNKSAREIQAYIQNADLYGQYAHATSDYGLQNPGMNRFLGLYGEDDDSWCSSSSSSSDSEEEGYFLGQPIPQPRPQRFAYYTDDLSSPPSALPTPQFGQRTTKSKKKKGHKGKNCIIS
uniprot
proteins
disease_involvement
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.; DISEASE: 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 may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
94300
uniprot
proteins
mutagenesis
MUTAGEN 828..831; /note="Missing: Abolishes localization to the nuclear membrane."; /evidence="ECO:0000269|PubMed:14645515
uniprot
proteins
protein_family
Prickle / espinas / testin family
uniprot
proteins
pubmed
12525887
uniprot
proteins
pubmed
14645515
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16442230
uniprot
proteins
pubmed
17411337
uniprot
proteins
pubmed
18976727
uniprot
proteins
pubmed
21276947
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21901791
uniprot
proteins
sequence_length
831
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:14645515}. Cytoplasm, cytosol {ECO:0000269|PubMed:14645515}. Note=A smaller amount is detected in the cytosol.
uniprot
proteins