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PRIC2_HUMAN
ID   PRIC2_HUMAN             Reviewed;         844 AA.
AC   Q7Z3G6; Q0VF44;
DT   01-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT   01-FEB-2005, sequence version 2.
DT   03-AUG-2022, entry version 145.
DE   RecName: Full=Prickle-like protein 2;
DE   Flags: Precursor;
GN   Name=PRICKLE2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Cervix;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [3]
RP   IDENTIFICATION, AND TISSUE SPECIFICITY.
RX   PubMed=12525887;
RA   Katoh M., Katoh M.;
RT   "Identification and characterization of human PRICKLE1 and PRICKLE2 genes
RT   as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila
RT   tissue polarity gene prickle.";
RL   Int. J. Mol. Med. 11:249-256(2003).
RN   [4]
RP   ISOPRENYLATION AT CYS-841.
RX   PubMed=17411337; DOI=10.1371/journal.pcbi.0030066;
RA   Maurer-Stroh S., Koranda M., Benetka W., Schneider G., Sirota F.L.,
RA   Eisenhaber F.;
RT   "Towards complete sets of farnesylated and geranylgeranylated proteins.";
RL   PLoS Comput. Biol. 3:634-648(2007).
RN   [5]
RP   PROBABLE INVOLVEMENT IN MYOCLONIC EPILEPSY, VARIANTS HIS-148; ILE-153 AND
RP   PHE-605, AND CHARACTERIZATION OF VARIANTS HIS-148; ILE-153 AND PHE-605.
RX   PubMed=21276947; DOI=10.1016/j.ajhg.2010.12.012;
RA   Tao H., Manak J.R., Sowers L., Mei X., Kiyonari H., Abe T., Dahdaleh N.S.,
RA   Yang T., Wu S., Chen S., Fox M.H., Gurnett C., Montine T., Bird T.,
RA   Shaffer L.G., Rosenfeld J.A., McConnell J., Madan-Khetarpal S.,
RA   Berry-Kravis E., Griesbach H., Saneto R.P., Scott M.P., Antic D., Reed J.,
RA   Boland R., Ehaideb S.N., El-Shanti H., Mahajan V.B., Ferguson P.J.,
RA   Axelrod J.D., Lehesjoki A.E., Fritzsch B., Slusarski D.C., Wemmie J.,
RA   Ueno N., Bassuk A.G.;
RT   "Mutations in prickle orthologs cause seizures in flies, mice, and
RT   humans.";
RL   Am. J. Hum. Genet. 88:138-149(2011).
RN   [6]
RP   LACK OF INVOLVEMENT IN MYOCLONIC EPILEPSY.
RX   PubMed=26942291; DOI=10.1016/j.ajhg.2016.01.009;
RA   Sandford E., Bird T.D., Li J.Z., Burmeister M.;
RT   "PRICKLE2 mutations might not be involved in epilepsy.";
RL   Am. J. Hum. Genet. 98:588-589(2016).
RN   [7]
RP   PROBABLE INVOLVEMENT IN MYOCLONIC EPILEPSY.
RX   PubMed=26942292; DOI=10.1016/j.ajhg.2016.02.002;
RA   Mahajan V.B., Bassuk A.G.;
RT   "Response to Sandford et al.: PRICKLE2 variants in epilepsy: A call for
RT   precision medicine.";
RL   Am. J. Hum. Genet. 98:590-591(2016).
CC   -!- SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000305}.
CC   -!- TISSUE SPECIFICITY: Expressed in brain, eye and testis. Additionally in
CC       fetal brain, adult cartilage, pancreatic islet, gastric cancer and
CC       uterus tumors. {ECO:0000269|PubMed:12525887}.
CC   -!- DISEASE: Note=PRICKLE2 mutations have been found in patients with
CC       myoclonic epilepsy but involvement of this gene in pathogenesis is
CC       under debate since some of the patients also carry POLG mutations.
CC       {ECO:0000269|PubMed:21276947, ECO:0000269|PubMed:26942291,
CC       ECO:0000269|PubMed:26942292}.
CC   -!- SIMILARITY: Belongs to the prickle / espinas / testin family.
CC       {ECO:0000305}.
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DR   EMBL; AL833539; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BX537915; CAD97898.1; -; mRNA.
DR   EMBL; BC119002; AAI19003.1; -; mRNA.
DR   CCDS; CCDS2902.1; -.
DR   RefSeq; NP_942559.1; NM_198859.3.
DR   RefSeq; XP_016861287.1; XM_017005798.1.
DR   AlphaFoldDB; Q7Z3G6; -.
DR   SMR; Q7Z3G6; -.
DR   BioGRID; 127925; 15.
DR   IntAct; Q7Z3G6; 2.
DR   MINT; Q7Z3G6; -.
DR   STRING; 9606.ENSP00000295902; -.
DR   GlyConnect; 1625; 1 N-Linked glycan (1 site).
DR   GlyGen; Q7Z3G6; 1 site, 1 N-linked glycan (1 site).
DR   iPTMnet; Q7Z3G6; -.
DR   PhosphoSitePlus; Q7Z3G6; -.
DR   BioMuta; PRICKLE2; -.
DR   DMDM; 85701877; -.
DR   EPD; Q7Z3G6; -.
DR   jPOST; Q7Z3G6; -.
DR   MassIVE; Q7Z3G6; -.
DR   MaxQB; Q7Z3G6; -.
DR   PaxDb; Q7Z3G6; -.
DR   PeptideAtlas; Q7Z3G6; -.
DR   PRIDE; Q7Z3G6; -.
DR   ProteomicsDB; 69046; -.
DR   Antibodypedia; 50866; 76 antibodies from 20 providers.
DR   DNASU; 166336; -.
DR   Ensembl; ENST00000564377.6; ENSP00000455004.2; ENSG00000163637.13.
DR   Ensembl; ENST00000638394.2; ENSP00000492363.1; ENSG00000163637.13.
DR   GeneID; 166336; -.
DR   KEGG; hsa:166336; -.
DR   MANE-Select; ENST00000638394.2; ENSP00000492363.1; NM_198859.4; NP_942559.1.
DR   UCSC; uc003dmf.4; human.
DR   CTD; 166336; -.
DR   DisGeNET; 166336; -.
DR   GeneCards; PRICKLE2; -.
DR   HGNC; HGNC:20340; PRICKLE2.
DR   HPA; ENSG00000163637; Low tissue specificity.
DR   MalaCards; PRICKLE2; -.
DR   MIM; 608501; gene.
DR   neXtProt; NX_Q7Z3G6; -.
DR   OpenTargets; ENSG00000163637; -.
DR   Orphanet; 178469; Autosomal dominant non-syndromic intellectual disability.
DR   Orphanet; 402082; Progressive myoclonic epilepsy type 5.
DR   PharmGKB; PA134883144; -.
DR   VEuPathDB; HostDB:ENSG00000163637; -.
DR   eggNOG; KOG1704; Eukaryota.
DR   GeneTree; ENSGT00940000153629; -.
DR   HOGENOM; CLU_008937_5_0_1; -.
DR   InParanoid; Q7Z3G6; -.
DR   OMA; LHQSFDF; -.
DR   OrthoDB; 997264at2759; -.
DR   PhylomeDB; Q7Z3G6; -.
DR   TreeFam; TF313265; -.
DR   PathwayCommons; Q7Z3G6; -.
DR   SignaLink; Q7Z3G6; -.
DR   BioGRID-ORCS; 166336; 11 hits in 1074 CRISPR screens.
DR   ChiTaRS; PRICKLE2; human.
DR   GenomeRNAi; 166336; -.
DR   Pharos; Q7Z3G6; Tbio.
DR   PRO; PR:Q7Z3G6; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   RNAct; Q7Z3G6; protein.
DR   Bgee; ENSG00000163637; Expressed in oviduct epithelium and 169 other tissues.
DR   ExpressionAtlas; Q7Z3G6; baseline and differential.
DR   Genevisible; Q7Z3G6; HS.
DR   GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR   GO; GO:0031965; C:nuclear membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR   GO; GO:0060071; P:Wnt signaling pathway, planar cell polarity pathway; NAS:ParkinsonsUK-UCL.
DR   CDD; cd09415; LIM1_Prickle; 1.
DR   CDD; cd09418; LIM2_Prickle; 1.
DR   CDD; cd09420; LIM3_Prickle; 1.
DR   CDD; cd09827; PET_Prickle; 1.
DR   InterPro; IPR033725; LIM1_prickle.
DR   InterPro; IPR033726; LIM2_prickle.
DR   InterPro; IPR033727; LIM3_prickle.
DR   InterPro; IPR010442; PET_domain.
DR   InterPro; IPR033723; PET_prickle.
DR   InterPro; IPR001781; Znf_LIM.
DR   Pfam; PF00412; LIM; 3.
DR   Pfam; PF06297; PET; 1.
DR   SMART; SM00132; LIM; 3.
DR   PROSITE; PS00478; LIM_DOMAIN_1; 2.
DR   PROSITE; PS50023; LIM_DOMAIN_2; 3.
DR   PROSITE; PS51303; PET; 1.
PE   1: Evidence at protein level;
KW   Disease variant; Epilepsy; LIM domain; Lipoprotein; Membrane;
KW   Metal-binding; Methylation; Neurodegeneration; Neuropathy; Nucleus;
KW   Phosphoprotein; Prenylation; Reference proteome; Repeat; Zinc.
FT   CHAIN           1..841
FT                   /note="Prickle-like protein 2"
FT                   /id="PRO_0000075891"
FT   PROPEP          842..844
FT                   /note="Removed in mature form"
FT                   /evidence="ECO:0000305"
FT                   /id="PRO_0000396718"
FT   DOMAIN          18..126
FT                   /note="PET"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00636"
FT   DOMAIN          128..193
FT                   /note="LIM zinc-binding 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT   DOMAIN          193..253
FT                   /note="LIM zinc-binding 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT   DOMAIN          253..317
FT                   /note="LIM zinc-binding 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT   REGION          314..350
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          481..519
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          639..709
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          822..844
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        314..328
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        329..349
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        481..497
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        664..681
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        694..709
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         92
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         319
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         321
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         322
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         534
FT                   /note="Phosphothreonine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         536
FT                   /note="Phosphothreonine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         539
FT                   /note="Phosphothreonine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         543
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         546
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         607
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         642
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         731
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT   MOD_RES         841
FT                   /note="Cysteine methyl ester"
FT                   /evidence="ECO:0000305"
FT   LIPID           841
FT                   /note="S-farnesyl cysteine"
FT                   /evidence="ECO:0000269|PubMed:17411337"
FT   VARIANT         148
FT                   /note="R -> H (found in patients with severe progressive
FT                   myoclonic epilepsy; unknown pathological significance;
FT                   results in increased protein activity when associated with
FT                   I-153; less active in stimulating calcium release when
FT                   associated with I-153; dbSNP:rs387906988)"
FT                   /evidence="ECO:0000269|PubMed:21276947"
FT                   /id="VAR_065582"
FT   VARIANT         153
FT                   /note="V -> I (found in patients with severe progressive
FT                   myoclonic epilepsy; unknown pathological significance;
FT                   results in increased protein activity when associated with
FT                   H-148; less active in stimulating calcium release when
FT                   associated with H-148; dbSNP:rs139747674)"
FT                   /evidence="ECO:0000269|PubMed:21276947"
FT                   /id="VAR_065583"
FT   VARIANT         605
FT                   /note="V -> F (found in a patient with myoclonic epilepsy;
FT                   unknown pathological significance; results in decreased
FT                   protein activity; less active in stimulating calcium
FT                   release compared to wild-type; dbSNP:rs387906989)"
FT                   /evidence="ECO:0000269|PubMed:21276947"
FT                   /id="VAR_065584"
SQ   SEQUENCE   844 AA;  95615 MW;  F6BFA6524734B4E7 CRC64;
     MVTVMPLEME KTISKLMFDF QRNSTSDDDS GCALEEYAWV PPGLKPEQVH QYYSCLPEEK
     VPYVNSPGEK LRIKQLLHQL PPHDNEVRYC NSLDEEEKRE LKLFSSQRKR ENLGRGNVRP
     FPVTMTGAIC EQCGGQINGG DIAVFASRAG HGVCWHPPCF VCTVCNELLV DLIYFYQDGK
     IYCGRHHAEC LKPRCAACDE IIFADECTEA EGRHWHMKHF CCFECETVLG GQRYIMKEGR
     PYCCHCFESL YAEYCDTCAQ HIGIDQGQMT YDGQHWHATE TCFCCAHCKK SLLGRPFLPK
     QGQIFCSRAC SAGEDPNGSD SSDSAFQNAR AKESRRSAKI GKNKGKTEEP MLNQHSQLQV
     SSNRLSADVD PLSLQMDMLS LSSQTPSLNR DPIWRSREEP YHYGNKMEQN QTQSPLQLLS
     QCNIRTSYSP GGQGAGAQPE MWGKHFSNPK RSSSLAMTGH AGSFIKECRE DYYPGRLRSQ
     ESYSDMSSQS FSETRGSIQV PKYEEEEEEE GGLSTQQCRT RHPISSLKYT EDMTPTEQTP
     RGSMESLALS NATGLSADGG AKRQEHLSRF SMPDLSKDSG MNVSEKLSNM GTLNSSMQFR
     SAESVRSLLS AQQYQEMEGN LHQLSNPIGY RDLQSHGRMH QSFDFDGGMA GSKLPGQEGV
     RIQPMSERTR RRATSRDDNR RFRPHRSRRS RRSRSDNALH LASEREAISR LKDRPPLRAR
     EDYDQFMRQR SFQESMGHGS RRDLYGQCPR TVSDLALQNA FGDRWGPYFA EYDWCSTCSS
     SSESDNEGYF LGEPIPQPAR LRYVTSDELL HKYSSYGLPK SSTLGGRGQL HSRKRQKSKN
     CIIS
 
 
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