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Q7Z3G6

- PRIC2_HUMAN

UniProt

Q7Z3G6 - PRIC2_HUMAN

Protein

Prickle-like protein 2

Gene

PRICKLE2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 2 (01 Feb 2005)
      Previous versions | rss
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    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

    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. nuclear membrane Source: UniProtKB-SubCell

    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.
    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

    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.
    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.
    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

    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: October 1, 2014
    This is version 96 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