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Q7Z3G6

- PRIC2_HUMAN

UniProt

Q7Z3G6 - PRIC2_HUMAN

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Protein

Prickle-like protein 2

Gene

PRICKLE2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. zinc ion binding Source: InterPro

GO - Biological processi

  1. establishment or maintenance of epithelial cell apical/basal polarity Source: Ensembl
  2. neuron projection development Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Prickle-like protein 2
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:20340. PRICKLE2.

Subcellular locationi

GO - Cellular componenti

  1. apicolateral plasma membrane Source: Ensembl
  2. cytoplasm Source: LIFEdb
  3. lateral plasma membrane Source: Ensembl
  4. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 5 (EPM5) [MIM:613832]: A neurodegenerative disorder characterized by myoclonic seizures and variable neurologic symptoms including cognitive decline and persistent movement abnormalities.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481R → H in EPM5; associated with Ile-153; results in increased protein activity compared to wild-type; mutant protein is less active in stimulating calcium release compared to wild-type. 1 Publication
VAR_065582
Natural varianti153 – 1531V → I in EPM5; associated with His-148; results in increased protein activity compared to wild-type; mutant protein is less active in stimulating calcium release compared to wild-type. 1 Publication
Corresponds to variant rs139747674 [ dbSNP | Ensembl ].
VAR_065583
Natural varianti605 – 6051V → F in EPM5; results in decreased protein activity compared to wild-type; mutant protein is less active in stimulating calcium release compared to wild-type. 1 Publication
VAR_065584

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi613832. phenotype.
Orphaneti402082. Progressive myoclonic epilepsy type 5.
PharmGKBiPA134883144.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 841841Prickle-like protein 2PRO_0000075891Add
BLAST
Propeptidei842 – 8443Removed in mature formCuratedPRO_0000396718

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei92 – 921PhosphoserineBy similarity
Modified residuei841 – 8411Cysteine methyl esterCurated
Lipidationi841 – 8411S-farnesyl cysteine1 Publication

Keywords - PTMi

Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

MaxQBiQ7Z3G6.
PaxDbiQ7Z3G6.
PRIDEiQ7Z3G6.

PTM databases

PhosphoSiteiQ7Z3G6.

Expressioni

Tissue specificityi

Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors.1 Publication

Gene expression databases

BgeeiQ7Z3G6.
CleanExiHS_PRICKLE2.
ExpressionAtlasiQ7Z3G6. baseline and differential.
GenevestigatoriQ7Z3G6.

Organism-specific databases

HPAiHPA035493.

Interactioni

Protein-protein interaction databases

BioGridi127925. 2 interactions.
IntActiQ7Z3G6. 2 interactions.
MINTiMINT-6777790.
STRINGi9606.ENSP00000295902.

Structurei

3D structure databases

ProteinModelPortaliQ7Z3G6.
SMRiQ7Z3G6. Positions 192-310.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 126109PETPROSITE-ProRule annotationAdd
BLAST
Domaini128 – 19366LIM zinc-binding 1PROSITE-ProRule annotationAdd
BLAST
Domaini193 – 25361LIM zinc-binding 2PROSITE-ProRule annotationAdd
BLAST
Domaini253 – 31765LIM zinc-binding 3PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi504 – 5107Poly-Glu
Compositional biasi668 – 73063Arg-richAdd
BLAST
Compositional biasi779 – 7846Poly-Ser

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

eggNOGiNOG314122.
GeneTreeiENSGT00550000074438.
HOGENOMiHOG000290649.
HOVERGENiHBG053679.
InParanoidiQ7Z3G6.
KOiK04511.
PhylomeDBiQ7Z3G6.
TreeFamiTF313265.

Family and domain databases

Gene3Di2.10.110.10. 3 hits.
InterProiIPR010442. PET_domain.
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.

Q7Z3G6-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MVTVMPLEME KTISKLMFDF QRNSTSDDDS GCALEEYAWV PPGLKPEQVH
60 70 80 90 100
QYYSCLPEEK VPYVNSPGEK LRIKQLLHQL PPHDNEVRYC NSLDEEEKRE
110 120 130 140 150
LKLFSSQRKR ENLGRGNVRP FPVTMTGAIC EQCGGQINGG DIAVFASRAG
160 170 180 190 200
HGVCWHPPCF VCTVCNELLV DLIYFYQDGK IYCGRHHAEC LKPRCAACDE
210 220 230 240 250
IIFADECTEA EGRHWHMKHF CCFECETVLG GQRYIMKEGR PYCCHCFESL
260 270 280 290 300
YAEYCDTCAQ HIGIDQGQMT YDGQHWHATE TCFCCAHCKK SLLGRPFLPK
310 320 330 340 350
QGQIFCSRAC SAGEDPNGSD SSDSAFQNAR AKESRRSAKI GKNKGKTEEP
360 370 380 390 400
MLNQHSQLQV SSNRLSADVD PLSLQMDMLS LSSQTPSLNR DPIWRSREEP
410 420 430 440 450
YHYGNKMEQN QTQSPLQLLS QCNIRTSYSP GGQGAGAQPE MWGKHFSNPK
460 470 480 490 500
RSSSLAMTGH AGSFIKECRE DYYPGRLRSQ ESYSDMSSQS FSETRGSIQV
510 520 530 540 550
PKYEEEEEEE GGLSTQQCRT RHPISSLKYT EDMTPTEQTP RGSMESLALS
560 570 580 590 600
NATGLSADGG AKRQEHLSRF SMPDLSKDSG MNVSEKLSNM GTLNSSMQFR
610 620 630 640 650
SAESVRSLLS AQQYQEMEGN LHQLSNPIGY RDLQSHGRMH QSFDFDGGMA
660 670 680 690 700
GSKLPGQEGV RIQPMSERTR RRATSRDDNR RFRPHRSRRS RRSRSDNALH
710 720 730 740 750
LASEREAISR LKDRPPLRAR EDYDQFMRQR SFQESMGHGS RRDLYGQCPR
760 770 780 790 800
TVSDLALQNA FGDRWGPYFA EYDWCSTCSS SSESDNEGYF LGEPIPQPAR
810 820 830 840
LRYVTSDELL HKYSSYGLPK SSTLGGRGQL HSRKRQKSKN CIIS
Length:844
Mass (Da):95,615
Last modified:February 1, 2005 - v2
Checksum:iF6BFA6524734B4E7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481R → H in EPM5; associated with Ile-153; results in increased protein activity compared to wild-type; mutant protein is less active in stimulating calcium release compared to wild-type. 1 Publication
VAR_065582
Natural varianti153 – 1531V → I in EPM5; associated with His-148; results in increased protein activity compared to wild-type; mutant protein is less active in stimulating calcium release compared to wild-type. 1 Publication
Corresponds to variant rs139747674 [ dbSNP | Ensembl ].
VAR_065583
Natural varianti605 – 6051V → F in EPM5; results in decreased protein activity compared to wild-type; mutant protein is less active in stimulating calcium release compared to wild-type. 1 Publication
VAR_065584

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833539 mRNA. No translation available.
BX537915 mRNA. Translation: CAD97898.1.
BC119002 mRNA. Translation: AAI19003.1.
CCDSiCCDS2902.1.
RefSeqiNP_942559.1. NM_198859.3.
XP_005264967.1. XM_005264910.2.
XP_005264968.1. XM_005264911.2.
XP_006713069.1. XM_006713006.1.
UniGeneiHs.148105.

Genome annotation databases

EnsembliENST00000295902; ENSP00000295902; ENSG00000163637.
GeneIDi166336.
KEGGihsa:166336.
UCSCiuc003dmf.3. human.

Polymorphism databases

DMDMi85701877.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833539 mRNA. No translation available.
BX537915 mRNA. Translation: CAD97898.1 .
BC119002 mRNA. Translation: AAI19003.1 .
CCDSi CCDS2902.1.
RefSeqi NP_942559.1. NM_198859.3.
XP_005264967.1. XM_005264910.2.
XP_005264968.1. XM_005264911.2.
XP_006713069.1. XM_006713006.1.
UniGenei Hs.148105.

3D structure databases

ProteinModelPortali Q7Z3G6.
SMRi Q7Z3G6. Positions 192-310.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127925. 2 interactions.
IntActi Q7Z3G6. 2 interactions.
MINTi MINT-6777790.
STRINGi 9606.ENSP00000295902.

PTM databases

PhosphoSitei Q7Z3G6.

Polymorphism databases

DMDMi 85701877.

Proteomic databases

MaxQBi Q7Z3G6.
PaxDbi Q7Z3G6.
PRIDEi Q7Z3G6.

Protocols and materials databases

DNASUi 166336.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295902 ; ENSP00000295902 ; ENSG00000163637 .
GeneIDi 166336.
KEGGi hsa:166336.
UCSCi uc003dmf.3. human.

Organism-specific databases

CTDi 166336.
GeneCardsi GC03M064079.
H-InvDB HIX0003421.
HIX0021600.
HGNCi HGNC:20340. PRICKLE2.
HPAi HPA035493.
MIMi 608501. gene.
613832. phenotype.
neXtProti NX_Q7Z3G6.
Orphaneti 402082. Progressive myoclonic epilepsy type 5.
PharmGKBi PA134883144.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG314122.
GeneTreei ENSGT00550000074438.
HOGENOMi HOG000290649.
HOVERGENi HBG053679.
InParanoidi Q7Z3G6.
KOi K04511.
PhylomeDBi Q7Z3G6.
TreeFami TF313265.

Miscellaneous databases

ChiTaRSi PRICKLE2. human.
GenomeRNAii 166336.
NextBioi 88581.
PROi Q7Z3G6.
SOURCEi Search...

Gene expression databases

Bgeei Q7Z3G6.
CleanExi HS_PRICKLE2.
ExpressionAtlasi Q7Z3G6. baseline and differential.
Genevestigatori Q7Z3G6.

Family and domain databases

Gene3Di 2.10.110.10. 3 hits.
InterProi IPR010442. PET_domain.
IPR001781. Znf_LIM.
[Graphical view ]
Pfami PF00412. LIM. 3 hits.
PF06297. PET. 1 hit.
[Graphical view ]
SMARTi SM00132. LIM. 3 hits.
[Graphical view ]
PROSITEi PS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 3 hits.
PS51303. PET. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Cervix.
  2. "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].
  3. "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.
  4. "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-841.
  5. Cited for: VARIANTS EPM5 HIS-148; ILE-153 AND PHE-605, CHARACTERIZATION OF VARIANTS EPM5 HIS-148; ILE-153 AND PHE-605.

Entry informationi

Entry nameiPRIC2_HUMAN
AccessioniPrimary (citable) accession number: Q7Z3G6
Secondary accession number(s): Q0VF44
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 1, 2005
Last modified: November 26, 2014
This is version 98 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 3
    Human chromosome 3: 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

External Data

Dasty 3