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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

Nucleus membrane Reviewed prediction

GO - Cellular componenti

  1. apicolateral plasma membrane Source: Ensembl
  2. cytoplasm Source: LIFEdb
  3. lateral plasma membrane Source: Ensembl
  4. nuclear membrane Source: UniProtKB-SubCell
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
PharmGKBiPA134883144.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 841841Prickle-like protein 2
PRO_0000075891Add
BLAST
Propeptidei842 – 8443Removed in mature form Inferred
PRO_0000396718

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei92 – 921Phosphoserine By similarity
Modified residuei841 – 8411Cysteine methyl ester Inferred
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

ArrayExpressiQ7Z3G6.
BgeeiQ7Z3G6.
CleanExiHS_PRICKLE2.
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 128-310.

Family & Domainsi

Domains and Repeats

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

Compositional bias

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

Sequence similaritiesi

Contains 1 PET domain.

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

eggNOGiNOG314122.
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

MVTVMPLEME KTISKLMFDF QRNSTSDDDS GCALEEYAWV PPGLKPEQVH    50
QYYSCLPEEK VPYVNSPGEK LRIKQLLHQL PPHDNEVRYC NSLDEEEKRE 100
LKLFSSQRKR ENLGRGNVRP FPVTMTGAIC EQCGGQINGG DIAVFASRAG 150
HGVCWHPPCF VCTVCNELLV DLIYFYQDGK IYCGRHHAEC LKPRCAACDE 200
IIFADECTEA EGRHWHMKHF CCFECETVLG GQRYIMKEGR PYCCHCFESL 250
YAEYCDTCAQ HIGIDQGQMT YDGQHWHATE TCFCCAHCKK SLLGRPFLPK 300
QGQIFCSRAC SAGEDPNGSD SSDSAFQNAR AKESRRSAKI GKNKGKTEEP 350
MLNQHSQLQV SSNRLSADVD PLSLQMDMLS LSSQTPSLNR DPIWRSREEP 400
YHYGNKMEQN QTQSPLQLLS QCNIRTSYSP GGQGAGAQPE MWGKHFSNPK 450
RSSSLAMTGH AGSFIKECRE DYYPGRLRSQ ESYSDMSSQS FSETRGSIQV 500
PKYEEEEEEE GGLSTQQCRT RHPISSLKYT EDMTPTEQTP RGSMESLALS 550
NATGLSADGG AKRQEHLSRF SMPDLSKDSG MNVSEKLSNM GTLNSSMQFR 600
SAESVRSLLS AQQYQEMEGN LHQLSNPIGY RDLQSHGRMH QSFDFDGGMA 650
GSKLPGQEGV RIQPMSERTR RRATSRDDNR RFRPHRSRRS RRSRSDNALH 700
LASEREAISR LKDRPPLRAR EDYDQFMRQR SFQESMGHGS RRDLYGQCPR 750
TVSDLALQNA FGDRWGPYFA EYDWCSTCSS SSESDNEGYF LGEPIPQPAR 800
LRYVTSDELL HKYSSYGLPK SSTLGGRGQL HSRKRQKSKN CIIS 844
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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 128-310.
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.
PharmGKBi PA134883144.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG314122.
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

ArrayExpressi Q7Z3G6.
Bgeei Q7Z3G6.
CleanExi HS_PRICKLE2.
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: July 9, 2014
This is version 95 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

Similar proteinsi