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Q96MT3

- PRIC1_HUMAN

UniProt

Q96MT3 - PRIC1_HUMAN

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Protein

Prickle-like protein 1

Gene
PRICKLE1, RILP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor.1 Publication

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. zinc ion binding Source: InterPro

GO - Biological processi

  1. negative regulation of canonical Wnt signaling pathway Source: BHF-UCL
  2. negative regulation of cardiac muscle cell myoblast differentiation Source: UniProtKB
  3. negative regulation of transcription, DNA-templated Source: BHF-UCL
  4. neural tube closure Source: UniProtKB
  5. positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: BHF-UCL
  6. positive regulation of protein ubiquitination Source: BHF-UCL
  7. protein import into nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_172638. Asymmetric localization of PCP proteins.

Names & Taxonomyi

Protein namesi
Recommended name:
Prickle-like protein 1
Alternative name(s):
REST/NRSF-interacting LIM domain protein 1
Gene namesi
Synonyms:RILP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:17019. PRICKLE1.

Subcellular locationi

Nucleus membrane. Cytoplasmcytosol
Note: A smaller amount is detected in the cytosol.1 Publication

GO - Cellular componenti

  1. cytosol Source: UniProtKB
  2. nuclear membrane Source: UniProtKB
  3. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]: An autosomal recessive disorder characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti104 – 1041R → Q in EPM1B; affects interaction with REST. 2 Publications
VAR_054663
Natural varianti144 – 1441R → H in EPM1B. 1 Publication
VAR_065580
Natural varianti472 – 4721Y → H in EPM1B. 1 Publication
VAR_065581
Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti69 – 691I → T May be associated with NTD. 1 Publication
Corresponds to variant rs141795695 [ dbSNP | Ensembl ].
VAR_066850
Natural varianti81 – 811N → H May be associated with NTD. 1 Publication
VAR_066851
Natural varianti121 – 1211V → I May be associated with NTD. 1 Publication
VAR_066852
Natural varianti275 – 2751T → M May be associated with NTD. 1 Publication
VAR_066854
Natural varianti682 – 6821R → C May be associated with NTD. 1 Publication
VAR_066855
Natural varianti739 – 7391S → F May be associated with NTD. 1 Publication
Corresponds to variant rs138452760 [ dbSNP | Ensembl ].
VAR_066856
Natural varianti771 – 7711D → N May be associated with NTD. 1 Publication
VAR_066857
Natural varianti799 – 7991S → C May be associated with NTD. 1 Publication
VAR_066858

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi828 – 8314Missing: Abolishes localization to the nuclear membrane. 1 Publication

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi182940. phenotype.
612437. phenotype.
Orphaneti308. Unverricht-Lundborg disease.
PharmGKBiPA134906946.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 828828Prickle-like protein 1PRO_0000075889Add
BLAST
Propeptidei829 – 8313Removed in mature form InferredPRO_0000396712

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei828 – 8281Cysteine methyl ester Inferred
Lipidationi828 – 8281S-farnesyl cysteine2 Publications

Keywords - PTMi

Lipoprotein, Methylation, Prenylation

Proteomic databases

MaxQBiQ96MT3.
PaxDbiQ96MT3.
PRIDEiQ96MT3.

PTM databases

PhosphoSiteiQ96MT3.

Expressioni

Tissue specificityi

Expressed at highest levels in placenta and at lower levels in lung, liver, kidney and pancreas. Expressed in thalamus, hippocampus, cerebral cortex, and cerebellum (in neurons rather than glia).3 Publications

Gene expression databases

ArrayExpressiQ96MT3.
BgeeiQ96MT3.
CleanExiHS_PRICKLE1.
HS_RILP.
GenevestigatoriQ96MT3.

Organism-specific databases

HPAiHPA001379.
HPA050037.

Interactioni

Subunit structurei

Interacts with REST.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
DVL3Q929973EBI-2348662,EBI-739789

Protein-protein interaction databases

BioGridi126835. 2 interactions.
IntActiQ96MT3. 5 interactions.
STRINGi9606.ENSP00000345064.

Structurei

3D structure databases

ProteinModelPortaliQ96MT3.
SMRiQ96MT3. Positions 120-306.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini14 – 122109PETAdd
BLAST
Domaini124 – 18966LIM zinc-binding 1Add
BLAST
Domaini189 – 24961LIM zinc-binding 2Add
BLAST
Domaini249 – 31365LIM zinc-binding 3Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi655 – 68228Arg/His-richAdd
BLAST
Compositional biasi761 – 77212Ser-richAdd
BLAST
Compositional biasi816 – 8216Poly-Lys

Sequence similaritiesi

Contains 1 PET domain.

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

eggNOGiNOG314122.
HOGENOMiHOG000290649.
HOVERGENiHBG053679.
InParanoidiQ96MT3.
KOiK04511.
OMAiCCLECET.
OrthoDBiEOG7P8P7M.
PhylomeDBiQ96MT3.
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.

Q96MT3-1 [UniParc]FASTAAdd to Basket

« Hide

MPLEMEPKMS KLAFGCQRSS TSDDDSGCAL EEYAWVPPGL RPEQIQLYFA    50
CLPEEKVPYV NSPGEKHRIK QLLYQLPPHD NEVRYCQSLS EEEKKELQVF 100
SAQRKKEALG RGTIKLLSRA VMHAVCEQCG LKINGGEVAV FASRAGPGVC 150
WHPSCFVCFT CNELLVDLIY FYQDGKIHCG RHHAELLKPR CSACDEIIFA 200
DECTEAEGRH WHMKHFCCLE CETVLGGQRY IMKDGRPFCC GCFESLYAEY 250
CETCGEHIGV DHAQMTYDGQ HWHATEACFS CAQCKASLLG CPFLPKQGQI 300
YCSKTCSLGE DVHASDSSDS AFQSARSRDS RRSVRMGKSS RSADQCRQSL 350
LLSPALNYKF PGLSGNADDT LSRKLDDLSL SRQGTSFASE EFWKGRVEQE 400
TPEDPEEWAD HEDYMTQLLL KFGDKSLFQP QPNEMDIRAS EHWISDNMVK 450
SKTELKQNNQ SLASKKYQSD MYWAQSQDGL GDSAYGSHPG PASSRRLQEL 500
ELDHGASGYN HDETQWYEDS LECLSDLKPE QSVRDSMDSL ALSNITGASV 550
DGENKPRPSL YSLQNFEEME TEDCEKMSNM GTLNSSMLHR SAESLKSLSS 600
ELCPEKILPE EKPVHLPVLR RSKSQSRPQQ VKFSDDVIDN GNYDIEIRQP 650
PMSERTRRRV YNFEERGSRS HHHRRRRSRK SRSDNALNLV TERKYSPKDR 700
LRLYTPDNYE KFIQNKSARE IQAYIQNADL YGQYAHATSD YGLQNPGMNR 750
FLGLYGEDDD SWCSSSSSSS DSEEEGYFLG QPIPQPRPQR FAYYTDDLSS 800
PPSALPTPQF GQRTTKSKKK KGHKGKNCII S 831
Length:831
Mass (Da):94,300
Last modified:February 1, 2005 - v2
Checksum:i753D68BD5A4D0935
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti69 – 691I → T May be associated with NTD. 1 Publication
Corresponds to variant rs141795695 [ dbSNP | Ensembl ].
VAR_066850
Natural varianti81 – 811N → H May be associated with NTD. 1 Publication
VAR_066851
Natural varianti104 – 1041R → Q in EPM1B; affects interaction with REST. 2 Publications
VAR_054663
Natural varianti121 – 1211V → I May be associated with NTD. 1 Publication
VAR_066852
Natural varianti124 – 1241A → T.1 Publication
Corresponds to variant rs79087668 [ dbSNP | Ensembl ].
VAR_066853
Natural varianti144 – 1441R → H in EPM1B. 1 Publication
VAR_065580
Natural varianti275 – 2751T → M May be associated with NTD. 1 Publication
VAR_066854
Natural varianti472 – 4721Y → H in EPM1B. 1 Publication
VAR_065581
Natural varianti682 – 6821R → C May be associated with NTD. 1 Publication
VAR_066855
Natural varianti739 – 7391S → F May be associated with NTD. 1 Publication
Corresponds to variant rs138452760 [ dbSNP | Ensembl ].
VAR_066856
Natural varianti746 – 7461P → S.
Corresponds to variant rs3827522 [ dbSNP | Ensembl ].
VAR_056164
Natural varianti771 – 7711D → N May be associated with NTD. 1 Publication
VAR_066857
Natural varianti799 – 7991S → C May be associated with NTD. 1 Publication
VAR_066858

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti739 – 7391S → P in BAB71198. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF399844 mRNA. Translation: AAQ03035.1.
AK056189 mRNA. Translation: BAB71116.1.
AK056499 mRNA. Translation: BAB71198.1.
BC114939 mRNA. Translation: AAI14940.1.
BC114940 mRNA. Translation: AAI14941.1.
CCDSiCCDS8742.1.
RefSeqiNP_001138353.1. NM_001144881.1.
NP_001138354.1. NM_001144882.1.
NP_001138355.1. NM_001144883.1.
NP_694571.2. NM_153026.2.
UniGeneiHs.524348.
Hs.720221.

Genome annotation databases

EnsembliENST00000345127; ENSP00000345064; ENSG00000139174.
ENST00000445766; ENSP00000398947; ENSG00000139174.
ENST00000455697; ENSP00000401060; ENSG00000139174.
ENST00000548696; ENSP00000448359; ENSG00000139174.
ENST00000552240; ENSP00000449819; ENSG00000139174.
GeneIDi144165.
KEGGihsa:144165.
UCSCiuc001rnl.3. human.

Polymorphism databases

DMDMi59800163.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF399844 mRNA. Translation: AAQ03035.1 .
AK056189 mRNA. Translation: BAB71116.1 .
AK056499 mRNA. Translation: BAB71198.1 .
BC114939 mRNA. Translation: AAI14940.1 .
BC114940 mRNA. Translation: AAI14941.1 .
CCDSi CCDS8742.1.
RefSeqi NP_001138353.1. NM_001144881.1.
NP_001138354.1. NM_001144882.1.
NP_001138355.1. NM_001144883.1.
NP_694571.2. NM_153026.2.
UniGenei Hs.524348.
Hs.720221.

3D structure databases

ProteinModelPortali Q96MT3.
SMRi Q96MT3. Positions 120-306.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126835. 2 interactions.
IntActi Q96MT3. 5 interactions.
STRINGi 9606.ENSP00000345064.

PTM databases

PhosphoSitei Q96MT3.

Polymorphism databases

DMDMi 59800163.

Proteomic databases

MaxQBi Q96MT3.
PaxDbi Q96MT3.
PRIDEi Q96MT3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000345127 ; ENSP00000345064 ; ENSG00000139174 .
ENST00000445766 ; ENSP00000398947 ; ENSG00000139174 .
ENST00000455697 ; ENSP00000401060 ; ENSG00000139174 .
ENST00000548696 ; ENSP00000448359 ; ENSG00000139174 .
ENST00000552240 ; ENSP00000449819 ; ENSG00000139174 .
GeneIDi 144165.
KEGGi hsa:144165.
UCSCi uc001rnl.3. human.

Organism-specific databases

CTDi 144165.
GeneCardsi GC12M042852.
GeneReviewsi PRICKLE1.
HGNCi HGNC:17019. PRICKLE1.
HPAi HPA001379.
HPA050037.
MIMi 182940. phenotype.
608500. gene.
612437. phenotype.
neXtProti NX_Q96MT3.
Orphaneti 308. Unverricht-Lundborg disease.
PharmGKBi PA134906946.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG314122.
HOGENOMi HOG000290649.
HOVERGENi HBG053679.
InParanoidi Q96MT3.
KOi K04511.
OMAi CCLECET.
OrthoDBi EOG7P8P7M.
PhylomeDBi Q96MT3.
TreeFami TF313265.

Enzyme and pathway databases

Reactomei REACT_172638. Asymmetric localization of PCP proteins.

Miscellaneous databases

GenomeRNAii 144165.
NextBioi 84850.
PROi Q96MT3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96MT3.
Bgeei Q96MT3.
CleanExi HS_PRICKLE1.
HS_RILP.
Genevestigatori Q96MT3.

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. "REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor."
    Shimojo M., Hersh L.B.
    Mol. Cell. Biol. 23:9025-9031(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, ISOPRENYLATION AT CYS-828, MUTAGENESIS OF 828-CYS--SER-831, SUBCELLULAR LOCATION, INTERACTION WITH REST.
    Tissue: Brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "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].
  4. "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.
  5. "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-828.
  6. Cited for: TISSUE SPECIFICITY, VARIANT EPM1B GLN-104, CHARACTERIZATION OF VARIANT EPM1B GLN-104.
  7. "Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects."
    Bosoi C.M., Capra V., Allache R., Trinh V.Q., De Marco P., Merello E., Drapeau P., Bassuk A.G., Kibar Z.
    Hum. Mutat. 32:1371-1375(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, POSSIBLE INVOLVEMENT IN NTD, VARIANTS THR-69; HIS-81; ILE-121; THR-124; MET-275; CYS-682; PHE-739; ASN-771 AND CYS-799.
  8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: VARIANTS EPM1B GLN-104; HIS-144 AND HIS-472.

Entry informationi

Entry nameiPRIC1_HUMAN
AccessioniPrimary (citable) accession number: Q96MT3
Secondary accession number(s): Q14C83, Q71QF8, Q96N00
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 1, 2005
Last modified: September 3, 2014
This is version 110 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 12
    Human chromosome 12: 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

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