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Protein

Prickle-like protein 1

Gene

PRICKLE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-4608870 Asymmetric localization of PCP proteins

Names & Taxonomyi

Protein namesi
Recommended name:
Prickle-like protein 1
Alternative name(s):
REST/NRSF-interacting LIM domain protein 1
Gene namesi
Name:PRICKLE1
Synonyms:RILP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139174.10
HGNCiHGNC:17019 PRICKLE1
MIMi608500 gene
neXtProtiNX_Q96MT3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 1B (EPM1B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia.
See also OMIM:612437
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054663104R → Q in EPM1B; affects interaction with REST. 2 PublicationsCorresponds to variant dbSNP:rs113994140EnsemblClinVar.1
Natural variantiVAR_065580144R → H in EPM1B. 1 PublicationCorresponds to variant dbSNP:rs281865563EnsemblClinVar.1
Natural variantiVAR_065581472Y → H in EPM1B. 1 PublicationCorresponds to variant dbSNP:rs281865564EnsemblClinVar.1
Neural tube defects (NTD)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionCongenital 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.
See also OMIM:182940

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi828 – 831Missing : Abolishes localization to the nuclear membrane. 1 Publication4

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi144165
GeneReviewsiPRICKLE1
MalaCardsiPRICKLE1
MIMi182940 phenotype
612437 phenotype
OpenTargetsiENSG00000139174
Orphaneti308 Unverricht-Lundborg disease
PharmGKBiPA134906946

Polymorphism and mutation databases

BioMutaiPRICKLE1
DMDMi59800163

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000758891 – 828Prickle-like protein 1Add BLAST828
PropeptideiPRO_0000396712829 – 831Removed in mature formCurated3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei315PhosphoserineBy similarity1
Modified residuei591PhosphoserineBy similarity1
Modified residuei594PhosphoserineBy similarity1
Modified residuei683PhosphoserineBy similarity1
Modified residuei828Cysteine methyl esterCurated1
Lipidationi828S-farnesyl cysteine2 Publications1

Keywords - PTMi

Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

EPDiQ96MT3
MaxQBiQ96MT3
PaxDbiQ96MT3
PeptideAtlasiQ96MT3
PRIDEiQ96MT3
ProteomicsDBi77402

PTM databases

iPTMnetiQ96MT3
PhosphoSitePlusiQ96MT3

Expressioni

Tissue specificityi

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).3 Publications

Gene expression databases

BgeeiENSG00000139174 Expressed in 200 organ(s), highest expression level in amniotic fluid
CleanExiHS_PRICKLE1
HS_RILP
ExpressionAtlasiQ96MT3 baseline and differential
GenevisibleiQ96MT3 HS

Organism-specific databases

HPAiHPA001379
HPA050037

Interactioni

Subunit structurei

Interacts with REST.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi126835, 17 interactors
IntActiQ96MT3, 11 interactors
STRINGi9606.ENSP00000345064

Structurei

3D structure databases

ProteinModelPortaliQ96MT3
SMRiQ96MT3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini14 – 122PETPROSITE-ProRule annotationAdd BLAST109
Domaini124 – 189LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST66
Domaini189 – 249LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST61
Domaini249 – 313LIM zinc-binding 3PROSITE-ProRule annotationAdd BLAST65

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi655 – 682Arg/His-richAdd BLAST28
Compositional biasi761 – 772Ser-richAdd BLAST12
Compositional biasi816 – 821Poly-Lys6

Sequence similaritiesi

Belongs to the prickle / espinas / testin family.Curated

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

eggNOGiKOG1704 Eukaryota
ENOG410XP0W LUCA
GeneTreeiENSGT00550000074438
HOGENOMiHOG000290649
HOVERGENiHBG053679
InParanoidiQ96MT3
KOiK04511
OMAiRVEHETP
OrthoDBiEOG091G07C5
PhylomeDBiQ96MT3
TreeFamiTF313265

Family and domain databases

CDDicd09418 LIM2_Prickle, 1 hit
cd09420 LIM3_Prickle, 1 hit
cd09827 PET_Prickle, 1 hit
InterProiView protein in InterPro
IPR033726 LIM2_prickle
IPR033727 LIM3_prickle
IPR010442 PET_domain
IPR033723 PET_prickle
IPR001781 Znf_LIM
PfamiView protein in Pfam
PF00412 LIM, 3 hits
PF06297 PET, 1 hit
SMARTiView protein in SMART
SM00132 LIM, 3 hits
PROSITEiView protein in PROSITE
PS00478 LIM_DOMAIN_1, 2 hits
PS50023 LIM_DOMAIN_2, 3 hits
PS51303 PET, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q96MT3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPLEMEPKMS KLAFGCQRSS TSDDDSGCAL EEYAWVPPGL RPEQIQLYFA
60 70 80 90 100
CLPEEKVPYV NSPGEKHRIK QLLYQLPPHD NEVRYCQSLS EEEKKELQVF
110 120 130 140 150
SAQRKKEALG RGTIKLLSRA VMHAVCEQCG LKINGGEVAV FASRAGPGVC
160 170 180 190 200
WHPSCFVCFT CNELLVDLIY FYQDGKIHCG RHHAELLKPR CSACDEIIFA
210 220 230 240 250
DECTEAEGRH WHMKHFCCLE CETVLGGQRY IMKDGRPFCC GCFESLYAEY
260 270 280 290 300
CETCGEHIGV DHAQMTYDGQ HWHATEACFS CAQCKASLLG CPFLPKQGQI
310 320 330 340 350
YCSKTCSLGE DVHASDSSDS AFQSARSRDS RRSVRMGKSS RSADQCRQSL
360 370 380 390 400
LLSPALNYKF PGLSGNADDT LSRKLDDLSL SRQGTSFASE EFWKGRVEQE
410 420 430 440 450
TPEDPEEWAD HEDYMTQLLL KFGDKSLFQP QPNEMDIRAS EHWISDNMVK
460 470 480 490 500
SKTELKQNNQ SLASKKYQSD MYWAQSQDGL GDSAYGSHPG PASSRRLQEL
510 520 530 540 550
ELDHGASGYN HDETQWYEDS LECLSDLKPE QSVRDSMDSL ALSNITGASV
560 570 580 590 600
DGENKPRPSL YSLQNFEEME TEDCEKMSNM GTLNSSMLHR SAESLKSLSS
610 620 630 640 650
ELCPEKILPE EKPVHLPVLR RSKSQSRPQQ VKFSDDVIDN GNYDIEIRQP
660 670 680 690 700
PMSERTRRRV YNFEERGSRS HHHRRRRSRK SRSDNALNLV TERKYSPKDR
710 720 730 740 750
LRLYTPDNYE KFIQNKSARE IQAYIQNADL YGQYAHATSD YGLQNPGMNR
760 770 780 790 800
FLGLYGEDDD SWCSSSSSSS DSEEEGYFLG QPIPQPRPQR FAYYTDDLSS
810 820 830
PPSALPTPQF GQRTTKSKKK KGHKGKNCII S
Length:831
Mass (Da):94,300
Last modified:February 1, 2005 - v2
Checksum:i753D68BD5A4D0935
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W1J1F8W1J1_HUMAN
Prickle-like protein 1
PRICKLE1
119Annotation score:
F8VUG8F8VUG8_HUMAN
Prickle-like protein 1
PRICKLE1
163Annotation score:
F8W1Q8F8W1Q8_HUMAN
Prickle-like protein 1
PRICKLE1
109Annotation score:
A0A1W2PPC7A0A1W2PPC7_HUMAN
Prickle-like protein 1
PRICKLE1
128Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti739S → P in BAB71198 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06685069I → T May be associated with NTD. 1 PublicationCorresponds to variant dbSNP:rs141795695Ensembl.1
Natural variantiVAR_06685181N → H May be associated with NTD. 1 PublicationCorresponds to variant dbSNP:rs796052934Ensembl.1
Natural variantiVAR_054663104R → Q in EPM1B; affects interaction with REST. 2 PublicationsCorresponds to variant dbSNP:rs113994140EnsemblClinVar.1
Natural variantiVAR_066852121V → I May be associated with NTD. 1 PublicationCorresponds to variant dbSNP:rs371720624Ensembl.1
Natural variantiVAR_066853124A → T1 PublicationCorresponds to variant dbSNP:rs79087668EnsemblClinVar.1
Natural variantiVAR_065580144R → H in EPM1B. 1 PublicationCorresponds to variant dbSNP:rs281865563EnsemblClinVar.1
Natural variantiVAR_066854275T → M May be associated with NTD. 1 PublicationCorresponds to variant dbSNP:rs559947948EnsemblClinVar.1
Natural variantiVAR_065581472Y → H in EPM1B. 1 PublicationCorresponds to variant dbSNP:rs281865564EnsemblClinVar.1
Natural variantiVAR_066855682R → C May be associated with NTD. 1 PublicationCorresponds to variant dbSNP:rs768954477Ensembl.1
Natural variantiVAR_066856739S → F May be associated with NTD. 1 PublicationCorresponds to variant dbSNP:rs138452760EnsemblClinVar.1
Natural variantiVAR_056164746P → S. Corresponds to variant dbSNP:rs3827522EnsemblClinVar.1
Natural variantiVAR_066857771D → N May be associated with NTD. 1 Publication1
Natural variantiVAR_066858799S → C May be associated with NTD. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF399844 mRNA Translation: AAQ03035.1
AK056189 mRNA Translation: BAB71116.1
AK056499 mRNA Translation: BAB71198.1
BC114939 mRNA Translation: AAI14940.1
BC114940 mRNA Translation: AAI14941.1
CCDSiCCDS8742.1
RefSeqiNP_001138353.1, NM_001144881.1
NP_001138354.1, NM_001144882.1
NP_001138355.1, NM_001144883.1
NP_694571.2, NM_153026.2
XP_011536248.1, XM_011537946.1
XP_011536249.1, XM_011537947.2
XP_016874327.1, XM_017018838.1
XP_016874328.1, XM_017018839.1
XP_016874329.1, XM_017018840.1
UniGeneiHs.524348
Hs.720221

Genome annotation databases

EnsembliENST00000345127; ENSP00000345064; ENSG00000139174
ENST00000445766; ENSP00000398947; ENSG00000139174
ENST00000455697; ENSP00000401060; ENSG00000139174
ENST00000548696; ENSP00000448359; ENSG00000139174
ENST00000552240; ENSP00000449819; ENSG00000139174
ENST00000639566; ENSP00000492332; ENSG00000139174
ENST00000639589; ENSP00000491051; ENSG00000139174
ENST00000639958; ENSP00000492644; ENSG00000139174
ENST00000640055; ENSP00000492763; ENSG00000139174
ENST00000640132; ENSP00000491228; ENSG00000139174
GeneIDi144165
KEGGihsa:144165
UCSCiuc001rnl.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF399844 mRNA Translation: AAQ03035.1
AK056189 mRNA Translation: BAB71116.1
AK056499 mRNA Translation: BAB71198.1
BC114939 mRNA Translation: AAI14940.1
BC114940 mRNA Translation: AAI14941.1
CCDSiCCDS8742.1
RefSeqiNP_001138353.1, NM_001144881.1
NP_001138354.1, NM_001144882.1
NP_001138355.1, NM_001144883.1
NP_694571.2, NM_153026.2
XP_011536248.1, XM_011537946.1
XP_011536249.1, XM_011537947.2
XP_016874327.1, XM_017018838.1
XP_016874328.1, XM_017018839.1
XP_016874329.1, XM_017018840.1
UniGeneiHs.524348
Hs.720221

3D structure databases

ProteinModelPortaliQ96MT3
SMRiQ96MT3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126835, 17 interactors
IntActiQ96MT3, 11 interactors
STRINGi9606.ENSP00000345064

PTM databases

iPTMnetiQ96MT3
PhosphoSitePlusiQ96MT3

Polymorphism and mutation databases

BioMutaiPRICKLE1
DMDMi59800163

Proteomic databases

EPDiQ96MT3
MaxQBiQ96MT3
PaxDbiQ96MT3
PeptideAtlasiQ96MT3
PRIDEiQ96MT3
ProteomicsDBi77402

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000345127; ENSP00000345064; ENSG00000139174
ENST00000445766; ENSP00000398947; ENSG00000139174
ENST00000455697; ENSP00000401060; ENSG00000139174
ENST00000548696; ENSP00000448359; ENSG00000139174
ENST00000552240; ENSP00000449819; ENSG00000139174
ENST00000639566; ENSP00000492332; ENSG00000139174
ENST00000639589; ENSP00000491051; ENSG00000139174
ENST00000639958; ENSP00000492644; ENSG00000139174
ENST00000640055; ENSP00000492763; ENSG00000139174
ENST00000640132; ENSP00000491228; ENSG00000139174
GeneIDi144165
KEGGihsa:144165
UCSCiuc001rnl.4 human

Organism-specific databases

CTDi144165
DisGeNETi144165
EuPathDBiHostDB:ENSG00000139174.10
GeneCardsiPRICKLE1
GeneReviewsiPRICKLE1
HGNCiHGNC:17019 PRICKLE1
HPAiHPA001379
HPA050037
MalaCardsiPRICKLE1
MIMi182940 phenotype
608500 gene
612437 phenotype
neXtProtiNX_Q96MT3
OpenTargetsiENSG00000139174
Orphaneti308 Unverricht-Lundborg disease
PharmGKBiPA134906946
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1704 Eukaryota
ENOG410XP0W LUCA
GeneTreeiENSGT00550000074438
HOGENOMiHOG000290649
HOVERGENiHBG053679
InParanoidiQ96MT3
KOiK04511
OMAiRVEHETP
OrthoDBiEOG091G07C5
PhylomeDBiQ96MT3
TreeFamiTF313265

Enzyme and pathway databases

ReactomeiR-HSA-4608870 Asymmetric localization of PCP proteins

Miscellaneous databases

ChiTaRSiPRICKLE1 human
GenomeRNAii144165
PROiPR:Q96MT3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139174 Expressed in 200 organ(s), highest expression level in amniotic fluid
CleanExiHS_PRICKLE1
HS_RILP
ExpressionAtlasiQ96MT3 baseline and differential
GenevisibleiQ96MT3 HS

Family and domain databases

CDDicd09418 LIM2_Prickle, 1 hit
cd09420 LIM3_Prickle, 1 hit
cd09827 PET_Prickle, 1 hit
InterProiView protein in InterPro
IPR033726 LIM2_prickle
IPR033727 LIM3_prickle
IPR010442 PET_domain
IPR033723 PET_prickle
IPR001781 Znf_LIM
PfamiView protein in Pfam
PF00412 LIM, 3 hits
PF06297 PET, 1 hit
SMARTiView protein in SMART
SM00132 LIM, 3 hits
PROSITEiView protein in PROSITE
PS00478 LIM_DOMAIN_1, 2 hits
PS50023 LIM_DOMAIN_2, 3 hits
PS51303 PET, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPRIC1_HUMAN
AccessioniPrimary (citable) accession number: Q96MT3
Secondary accession number(s): Q14C83, Q71QF8, Q96N00
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 1, 2005
Last modified: November 7, 2018
This is version 146 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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