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Protein

Prickle-like protein 1

Gene

PRICKLE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • aorta development Source: Ensembl
  • coronary vasculature development Source: Ensembl
  • negative regulation of canonical Wnt signaling pathway Source: BHF-UCL
  • negative regulation of cardiac muscle cell myoblast differentiation Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: BHF-UCL
  • neural tube closure Source: UniProtKB
  • positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: BHF-UCL
  • positive regulation of protein ubiquitination Source: BHF-UCL
  • protein import into nucleus Source: UniProtKB
  • Wnt signaling pathway, planar cell polarity pathway Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000139174-MONOMER.
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

HGNCiHGNC:17019. PRICKLE1.

Subcellular locationi

  • Nucleus membrane 1 Publication
  • Cytoplasmcytosol 1 Publication

  • Note: A smaller amount is detected in the cytosol.

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • nuclear membrane Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

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 rs113994140dbSNPEnsembl.1
Natural variantiVAR_065580144R → H in EPM1B. 1 PublicationCorresponds to variant rs281865563dbSNPEnsembl.1
Natural variantiVAR_065581472Y → H in EPM1B. 1 PublicationCorresponds to variant rs281865564dbSNPEnsembl.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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06685069I → T May be associated with NTD. 1 PublicationCorresponds to variant rs141795695dbSNPEnsembl.1
Natural variantiVAR_06685181N → H May be associated with NTD. 1 PublicationCorresponds to variant rs796052934dbSNPEnsembl.1
Natural variantiVAR_066852121V → I May be associated with NTD. 1 Publication1
Natural variantiVAR_066854275T → M May be associated with NTD. 1 PublicationCorresponds to variant rs559947948dbSNPEnsembl.1
Natural variantiVAR_066855682R → C May be associated with NTD. 1 PublicationCorresponds to variant rs768954477dbSNPEnsembl.1
Natural variantiVAR_066856739S → F May be associated with NTD. 1 PublicationCorresponds to variant rs138452760dbSNPEnsembl.1
Natural variantiVAR_066857771D → N May be associated with NTD. 1 Publication1
Natural variantiVAR_066858799S → C May be associated with NTD. 1 Publication1

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.
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.

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.
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

WithEntry#Exp.IntActNotes
DVL3Q929973EBI-2348662,EBI-739789
PRPF31F1T0A53EBI-2348662,EBI-10177194
RestQ8VIG14EBI-2348662,EBI-2312802From a different organism.
UTP14CQ08E773EBI-2348662,EBI-10225961

Protein-protein interaction databases

BioGridi126835. 16 interactors.
IntActiQ96MT3. 9 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
Contains 3 LIM zinc-binding domains.PROSITE-ProRule annotation
Contains 1 PET domain.PROSITE-ProRule annotation

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

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

Family and domain databases

CDDicd09418. LIM2_Prickle. 1 hit.
cd09420. LIM3_Prickle. 1 hit.
cd09827. PET_Prickle. 1 hit.
Gene3Di2.10.110.10. 3 hits.
InterProiIPR033726. LIM2_prickle.
IPR033727. LIM3_prickle.
IPR010442. PET_domain.
IPR033723. PET_prickle.
IPR001781. Znf_LIM.
[Graphical view]
PfamiPF00412. LIM. 3 hits.
PF06297. PET. 1 hit.
[Graphical view]
SMARTiSM00132. LIM. 3 hits.
[Graphical view]
PROSITEiPS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 3 hits.
PS51303. PET. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

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 rs141795695dbSNPEnsembl.1
Natural variantiVAR_06685181N → H May be associated with NTD. 1 PublicationCorresponds to variant rs796052934dbSNPEnsembl.1
Natural variantiVAR_054663104R → Q in EPM1B; affects interaction with REST. 2 PublicationsCorresponds to variant rs113994140dbSNPEnsembl.1
Natural variantiVAR_066852121V → I May be associated with NTD. 1 Publication1
Natural variantiVAR_066853124A → T.1 PublicationCorresponds to variant rs79087668dbSNPEnsembl.1
Natural variantiVAR_065580144R → H in EPM1B. 1 PublicationCorresponds to variant rs281865563dbSNPEnsembl.1
Natural variantiVAR_066854275T → M May be associated with NTD. 1 PublicationCorresponds to variant rs559947948dbSNPEnsembl.1
Natural variantiVAR_065581472Y → H in EPM1B. 1 PublicationCorresponds to variant rs281865564dbSNPEnsembl.1
Natural variantiVAR_066855682R → C May be associated with NTD. 1 PublicationCorresponds to variant rs768954477dbSNPEnsembl.1
Natural variantiVAR_066856739S → F May be associated with NTD. 1 PublicationCorresponds to variant rs138452760dbSNPEnsembl.1
Natural variantiVAR_056164746P → S.Corresponds to variant rs3827522dbSNPEnsembl.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.
GeneIDi144165.
KEGGihsa:144165.
UCSCiuc001rnl.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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. 16 interactors.
IntActiQ96MT3. 9 interactors.
STRINGi9606.ENSP00000345064.

PTM databases

iPTMnetiQ96MT3.
PhosphoSitePlusiQ96MT3.

Polymorphism and mutation databases

BioMutaiPRICKLE1.
DMDMi59800163.

Proteomic databases

EPDiQ96MT3.
MaxQBiQ96MT3.
PaxDbiQ96MT3.
PeptideAtlasiQ96MT3.
PRIDEiQ96MT3.

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.
GeneIDi144165.
KEGGihsa:144165.
UCSCiuc001rnl.4. human.

Organism-specific databases

CTDi144165.
DisGeNETi144165.
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.
OMAiCCLECET.
OrthoDBiEOG091G07C5.
PhylomeDBiQ96MT3.
TreeFamiTF313265.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000139174-MONOMER.
ReactomeiR-HSA-4608870. Asymmetric localization of PCP proteins.

Miscellaneous databases

ChiTaRSiPRICKLE1. human.
GenomeRNAii144165.
PROiQ96MT3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139174.
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.
Gene3Di2.10.110.10. 3 hits.
InterProiIPR033726. LIM2_prickle.
IPR033727. LIM3_prickle.
IPR010442. PET_domain.
IPR033723. PET_prickle.
IPR001781. Znf_LIM.
[Graphical view]
PfamiPF00412. LIM. 3 hits.
PF06297. PET. 1 hit.
[Graphical view]
SMARTiSM00132. LIM. 3 hits.
[Graphical view]
PROSITEiPS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 3 hits.
PS51303. PET. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPRIC1_HUMAN
AccessioniPrimary (citable) accession number: Q96MT3
Secondary accession number(s): Q14C83, Q71QF8, Q96N00
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 1, 2005
Last modified: November 30, 2016
This is version 133 of the entry and version 2 of the sequence. [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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.