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Q96MT3 (PRIC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Prickle-like protein 1
Alternative name(s):
REST/NRSF-interacting LIM domain protein 1
Gene names
Name:PRICKLE1
Synonyms:RILP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length831 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.7

Subunit structure

Interacts with REST. Ref.1

Subcellular location

Nucleus membrane. Cytoplasmcytosol. Note: A smaller amount is detected in the cytosol. Ref.1

Tissue specificity

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). Ref.1 Ref.4 Ref.6

Involvement in disease

Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]: An autosomal recessive disorder characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.9

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the prickle / espinas / testin family.

Contains 3 LIM zinc-binding domains.

Contains 1 PET domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

DVL3Q929973EBI-2348662,EBI-739789

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 828828Prickle-like protein 1
PRO_0000075889
Propeptide829 – 8313Removed in mature form Probable
PRO_0000396712

Regions

Domain14 – 122109PET
Domain124 – 18966LIM zinc-binding 1
Domain189 – 24961LIM zinc-binding 2
Domain249 – 31365LIM zinc-binding 3
Compositional bias655 – 68228Arg/His-rich
Compositional bias761 – 77212Ser-rich
Compositional bias816 – 8216Poly-Lys

Amino acid modifications

Modified residue8281Cysteine methyl ester Probable
Lipidation8281S-farnesyl cysteine Ref.1 Ref.5

Natural variations

Natural variant691I → T May be associated with NTD. Ref.7
Corresponds to variant rs141795695 [ dbSNP | Ensembl ].
VAR_066850
Natural variant811N → H May be associated with NTD. Ref.7
VAR_066851
Natural variant1041R → Q in EPM1B; affects interaction with REST. Ref.6 Ref.9
VAR_054663
Natural variant1211V → I May be associated with NTD. Ref.7
VAR_066852
Natural variant1241A → T. Ref.7
Corresponds to variant rs79087668 [ dbSNP | Ensembl ].
VAR_066853
Natural variant1441R → H in EPM1B. Ref.9
VAR_065580
Natural variant2751T → M May be associated with NTD. Ref.7
VAR_066854
Natural variant4721Y → H in EPM1B. Ref.9
VAR_065581
Natural variant6821R → C May be associated with NTD. Ref.7
VAR_066855
Natural variant7391S → F May be associated with NTD. Ref.7
Corresponds to variant rs138452760 [ dbSNP | Ensembl ].
VAR_066856
Natural variant7461P → S.
Corresponds to variant rs3827522 [ dbSNP | Ensembl ].
VAR_056164
Natural variant7711D → N May be associated with NTD. Ref.7
VAR_066857
Natural variant7991S → C May be associated with NTD. Ref.7
VAR_066858

Experimental info

Mutagenesis828 – 8314Missing: Abolishes localization to the nuclear membrane. Ref.1
Sequence conflict7391S → P in BAB71198. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q96MT3 [UniParc].

Last modified February 1, 2005. Version 2.
Checksum: 753D68BD5A4D0935

FASTA83194,300
        10         20         30         40         50         60 
MPLEMEPKMS KLAFGCQRSS TSDDDSGCAL EEYAWVPPGL RPEQIQLYFA CLPEEKVPYV 

        70         80         90        100        110        120 
NSPGEKHRIK QLLYQLPPHD NEVRYCQSLS EEEKKELQVF SAQRKKEALG RGTIKLLSRA 

       130        140        150        160        170        180 
VMHAVCEQCG LKINGGEVAV FASRAGPGVC WHPSCFVCFT CNELLVDLIY FYQDGKIHCG 

       190        200        210        220        230        240 
RHHAELLKPR CSACDEIIFA DECTEAEGRH WHMKHFCCLE CETVLGGQRY IMKDGRPFCC 

       250        260        270        280        290        300 
GCFESLYAEY CETCGEHIGV DHAQMTYDGQ HWHATEACFS CAQCKASLLG CPFLPKQGQI 

       310        320        330        340        350        360 
YCSKTCSLGE DVHASDSSDS AFQSARSRDS RRSVRMGKSS RSADQCRQSL LLSPALNYKF 

       370        380        390        400        410        420 
PGLSGNADDT LSRKLDDLSL SRQGTSFASE EFWKGRVEQE TPEDPEEWAD HEDYMTQLLL 

       430        440        450        460        470        480 
KFGDKSLFQP QPNEMDIRAS EHWISDNMVK SKTELKQNNQ SLASKKYQSD MYWAQSQDGL 

       490        500        510        520        530        540 
GDSAYGSHPG PASSRRLQEL ELDHGASGYN HDETQWYEDS LECLSDLKPE QSVRDSMDSL 

       550        560        570        580        590        600 
ALSNITGASV DGENKPRPSL YSLQNFEEME TEDCEKMSNM GTLNSSMLHR SAESLKSLSS 

       610        620        630        640        650        660 
ELCPEKILPE EKPVHLPVLR RSKSQSRPQQ VKFSDDVIDN GNYDIEIRQP PMSERTRRRV 

       670        680        690        700        710        720 
YNFEERGSRS HHHRRRRSRK SRSDNALNLV TERKYSPKDR LRLYTPDNYE KFIQNKSARE 

       730        740        750        760        770        780 
IQAYIQNADL YGQYAHATSD YGLQNPGMNR FLGLYGEDDD SWCSSSSSSS DSEEEGYFLG 

       790        800        810        820        830 
QPIPQPRPQR FAYYTDDLSS PPSALPTPQF GQRTTKSKKK KGHKGKNCII S 

« Hide

References

« Hide 'large scale' references
[1]"REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor."
Shimojo M., Hersh L.B.
Mol. Cell. Biol. 23:9025-9031(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, ISOPRENYLATION AT CYS-828, MUTAGENESIS OF 828-CYS--SER-831, SUBCELLULAR LOCATION, INTERACTION WITH REST.
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle."
Katoh M., Katoh M.
Int. J. Mol. Med. 11:249-256(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION, TISSUE SPECIFICITY.
[5]"Towards complete sets of farnesylated and geranylgeranylated proteins."
Maurer-Stroh S., Koranda M., Benetka W., Schneider G., Sirota F.L., Eisenhaber F.
PLoS Comput. Biol. 3:634-648(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: ISOPRENYLATION AT CYS-828.
[6]"A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome."
Bassuk A.G., Wallace R.H., Buhr A., Buller A.R., Afawi Z., Shimojo M., Miyata S., Chen S., Gonzalez-Alegre P., Griesbach H.L., Wu S., Nashelsky M., Vladar E.K., Antic D., Ferguson P.J., Cirak S., Voit T., Scott M.P. expand/collapse author list , Axelrod J.D., Gurnett C., Daoud A.S., Kivity S., Neufeld M.Y., Mazarib A., Straussberg R., Walid S., Korczyn A.D., Slusarski D.C., Berkovic S.F., El-Shanti H.I.
Am. J. Hum. Genet. 83:572-581(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, VARIANT EPM1B GLN-104, CHARACTERIZATION OF VARIANT EPM1B GLN-104.
[7]"Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects."
Bosoi C.M., Capra V., Allache R., Trinh V.Q., De Marco P., Merello E., Drapeau P., Bassuk A.G., Kibar Z.
Hum. Mutat. 32:1371-1375(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, POSSIBLE INVOLVEMENT IN NTD, VARIANTS THR-69; HIS-81; ILE-121; THR-124; MET-275; CYS-682; PHE-739; ASN-771 AND CYS-799.
[8]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Mutations in prickle orthologs cause seizures in flies, mice, and humans."
Tao H., Manak J.R., Sowers L., Mei X., Kiyonari H., Abe T., Dahdaleh N.S., Yang T., Wu S., Chen S., Fox M.H., Gurnett C., Montine T., Bird T., Shaffer L.G., Rosenfeld J.A., McConnell J., Madan-Khetarpal S. expand/collapse author list , Berry-Kravis E., Griesbach H., Saneto R.P., Scott M.P., Antic D., Reed J., Boland R., Ehaideb S.N., El-Shanti H., Mahajan V.B., Ferguson P.J., Axelrod J.D., Lehesjoki A.E., Fritzsch B., Slusarski D.C., Wemmie J., Ueno N., Bassuk A.G.
Am. J. Hum. Genet. 88:138-149(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EPM1B GLN-104; HIS-144 AND HIS-472.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001138353.1. NM_001144881.1.
NP_001138354.1. NM_001144882.1.
NP_001138355.1. NM_001144883.1.
NP_694571.2. NM_153026.2.
UniGeneHs.524348.
Hs.720221.

3D structure databases

ProteinModelPortalQ96MT3.
SMRQ96MT3. Positions 124-306.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126835. 2 interactions.
IntActQ96MT3. 5 interactions.
STRING9606.ENSP00000345064.

PTM databases

PhosphoSiteQ96MT3.

Polymorphism databases

DMDM59800163.

Proteomic databases

PaxDbQ96MT3.
PRIDEQ96MT3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000345127; ENSP00000345064; ENSG00000139174.
ENST00000445766; ENSP00000398947; ENSG00000139174.
ENST00000455697; ENSP00000401060; ENSG00000139174.
ENST00000548696; ENSP00000448359; ENSG00000139174.
ENST00000552240; ENSP00000449819; ENSG00000139174.
GeneID144165.
KEGGhsa:144165.
UCSCuc001rnl.3. human.

Organism-specific databases

CTD144165.
GeneCardsGC12M042852.
HGNCHGNC:17019. PRICKLE1.
HPAHPA001379.
HPA050037.
MIM182940. phenotype.
608500. gene.
612437. phenotype.
neXtProtNX_Q96MT3.
Orphanet308. Unverricht-Lundborg disease.
PharmGKBPA134906946.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG314122.
HOGENOMHOG000290649.
HOVERGENHBG053679.
InParanoidQ96MT3.
KOK04511.
OMACCLECET.
OrthoDBEOG7P8P7M.
PhylomeDBQ96MT3.
TreeFamTF313265.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressQ96MT3.
BgeeQ96MT3.
CleanExHS_PRICKLE1.
HS_RILP.
GenevestigatorQ96MT3.

Family and domain databases

Gene3D2.10.110.10. 3 hits.
InterProIPR010442. PET_domain.
IPR001781. Znf_LIM.
[Graphical view]
PfamPF00412. LIM. 3 hits.
PF06297. PET. 1 hit.
[Graphical view]
SMARTSM00132. LIM. 3 hits.
[Graphical view]
PROSITEPS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 3 hits.
PS51303. PET. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi144165.
NextBio84850.
PROQ96MT3.
SOURCESearch...

Entry information

Entry namePRIC1_HUMAN
AccessionPrimary (citable) accession number: Q96MT3
Secondary accession number(s): Q14C83, Q71QF8, Q96N00
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 1, 2005
Last modified: April 16, 2014
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM