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Q7Z3G6 (PRIC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 95. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Prickle-like protein 2
Gene names
Name:PRICKLE2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length844 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Nucleus membrane Potential.

Tissue specificity

Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors. Ref.3

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the prickle / espinas / testin family.

Contains 3 LIM zinc-binding domains.

Contains 1 PET domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 841841Prickle-like protein 2
PRO_0000075891
Propeptide842 – 8443Removed in mature form Probable
PRO_0000396718

Regions

Domain18 – 126109PET
Domain128 – 19366LIM zinc-binding 1
Domain193 – 25361LIM zinc-binding 2
Domain253 – 31765LIM zinc-binding 3
Compositional bias504 – 5107Poly-Glu
Compositional bias668 – 73063Arg-rich
Compositional bias779 – 7846Poly-Ser

Amino acid modifications

Modified residue921Phosphoserine By similarity
Modified residue8411Cysteine methyl ester Probable
Lipidation8411S-farnesyl cysteine Ref.4

Natural variations

Natural variant1481R → 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. Ref.5
VAR_065582
Natural variant1531V → 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. Ref.5
Corresponds to variant rs139747674 [ dbSNP | Ensembl ].
VAR_065583
Natural variant6051V → 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. Ref.5
VAR_065584

Sequences

Sequence LengthMass (Da)Tools
Q7Z3G6 [UniParc].

Last modified February 1, 2005. Version 2.
Checksum: F6BFA6524734B4E7

FASTA84495,615
        10         20         30         40         50         60 
MVTVMPLEME KTISKLMFDF QRNSTSDDDS GCALEEYAWV PPGLKPEQVH QYYSCLPEEK 

        70         80         90        100        110        120 
VPYVNSPGEK LRIKQLLHQL PPHDNEVRYC NSLDEEEKRE LKLFSSQRKR ENLGRGNVRP 

       130        140        150        160        170        180 
FPVTMTGAIC EQCGGQINGG DIAVFASRAG HGVCWHPPCF VCTVCNELLV DLIYFYQDGK 

       190        200        210        220        230        240 
IYCGRHHAEC LKPRCAACDE IIFADECTEA EGRHWHMKHF CCFECETVLG GQRYIMKEGR 

       250        260        270        280        290        300 
PYCCHCFESL YAEYCDTCAQ HIGIDQGQMT YDGQHWHATE TCFCCAHCKK SLLGRPFLPK 

       310        320        330        340        350        360 
QGQIFCSRAC SAGEDPNGSD SSDSAFQNAR AKESRRSAKI GKNKGKTEEP MLNQHSQLQV 

       370        380        390        400        410        420 
SSNRLSADVD PLSLQMDMLS LSSQTPSLNR DPIWRSREEP YHYGNKMEQN QTQSPLQLLS 

       430        440        450        460        470        480 
QCNIRTSYSP GGQGAGAQPE MWGKHFSNPK RSSSLAMTGH AGSFIKECRE DYYPGRLRSQ 

       490        500        510        520        530        540 
ESYSDMSSQS FSETRGSIQV PKYEEEEEEE GGLSTQQCRT RHPISSLKYT EDMTPTEQTP 

       550        560        570        580        590        600 
RGSMESLALS NATGLSADGG AKRQEHLSRF SMPDLSKDSG MNVSEKLSNM GTLNSSMQFR 

       610        620        630        640        650        660 
SAESVRSLLS AQQYQEMEGN LHQLSNPIGY RDLQSHGRMH QSFDFDGGMA GSKLPGQEGV 

       670        680        690        700        710        720 
RIQPMSERTR RRATSRDDNR RFRPHRSRRS RRSRSDNALH LASEREAISR LKDRPPLRAR 

       730        740        750        760        770        780 
EDYDQFMRQR SFQESMGHGS RRDLYGQCPR TVSDLALQNA FGDRWGPYFA EYDWCSTCSS 

       790        800        810        820        830        840 
SSESDNEGYF LGEPIPQPAR LRYVTSDELL HKYSSYGLPK SSTLGGRGQL HSRKRQKSKN 


CIIS 

« Hide

References

« Hide 'large scale' references
[1]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"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 EPM5 HIS-148; ILE-153 AND PHE-605, CHARACTERIZATION OF VARIANTS EPM5 HIS-148; ILE-153 AND PHE-605.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL833539 mRNA. No translation available.
BX537915 mRNA. Translation: CAD97898.1.
BC119002 mRNA. Translation: AAI19003.1.
CCDSCCDS2902.1.
RefSeqNP_942559.1. NM_198859.3.
XP_005264967.1. XM_005264910.2.
XP_005264968.1. XM_005264911.2.
XP_006713069.1. XM_006713006.1.
UniGeneHs.148105.

3D structure databases

ProteinModelPortalQ7Z3G6.
SMRQ7Z3G6. Positions 128-310.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127925. 2 interactions.
IntActQ7Z3G6. 2 interactions.
MINTMINT-6777790.
STRING9606.ENSP00000295902.

PTM databases

PhosphoSiteQ7Z3G6.

Polymorphism databases

DMDM85701877.

Proteomic databases

MaxQBQ7Z3G6.
PaxDbQ7Z3G6.
PRIDEQ7Z3G6.

Protocols and materials databases

DNASU166336.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295902; ENSP00000295902; ENSG00000163637.
GeneID166336.
KEGGhsa:166336.
UCSCuc003dmf.3. human.

Organism-specific databases

CTD166336.
GeneCardsGC03M064079.
H-InvDBHIX0003421.
HIX0021600.
HGNCHGNC:20340. PRICKLE2.
HPAHPA035493.
MIM608501. gene.
613832. phenotype.
neXtProtNX_Q7Z3G6.
PharmGKBPA134883144.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG314122.
HOGENOMHOG000290649.
HOVERGENHBG053679.
InParanoidQ7Z3G6.
KOK04511.
PhylomeDBQ7Z3G6.
TreeFamTF313265.

Gene expression databases

ArrayExpressQ7Z3G6.
BgeeQ7Z3G6.
CleanExHS_PRICKLE2.
GenevestigatorQ7Z3G6.

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

ChiTaRSPRICKLE2. human.
GenomeRNAi166336.
NextBio88581.
PROQ7Z3G6.
SOURCESearch...

Entry information

Entry namePRIC2_HUMAN
AccessionPrimary (citable) accession number: Q7Z3G6
Secondary accession number(s): Q0VF44
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 1, 2005
Last modified: July 9, 2014
This is version 95 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 3

Human chromosome 3: entries, gene names and cross-references to MIM