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ROPN1 Gene

protein-coding   GIFtS: 44
GCID: GC03M123636

Rhophilin Associated Tail Protein 1

(Previous names: ropporin, rhophilin associated protein 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Rhophilin Associated Tail Protein 11 2     ODF62 5
Cancer/Testis Antigen 911 2 3     RHPNAP12
Ropporin, Rhophilin Associated Protein 11 2     Outer Dense Fiber Of Sperm Tails 62
Rhophilin-Associated Protein 1A2 3     ropporin2
CT912 3     ropporin-1A2
ROPN1A2 3     

External Ids:    HGNC: 176921   Entrez Gene: 547632   Ensembl: ENSG000000653717   OMIM: 6117575   UniProtKB: Q9HAT03   

Export aliases for ROPN1 gene to outside databases

Previous GC identifers: GC03M124969 GC03M125008 GC03M125170 GC03M121061


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ROPN1 Gene:
ROPN1 (rhophilin associated tail protein 1) is a protein-coding gene. Diseases associated with ROPN1 include multiple myeloma, and myeloma. GO annotations related to this gene include cAMP-dependent protein kinase regulator activity. An important paralog of this gene is ROPN1L.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ROPN1 gene promoter:
         TBP   AP-1   MyoD   STAT5A   Evi-1   GATA-2   MEF-2A   CREB   aMEF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidROPN1 promoter sequence
   Search Chromatin IP Primers for ROPN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ROPN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.1   Ensembl cytogenetic band:  3q21.1   HGNC cytogenetic band: 3q21.1

ROPN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ROPN1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M123636:  view genomic region     (about GC identifiers)

Start:
123,687,368 bp from pter      End:
123,711,025 bp from pter
Size:
23,658 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ROP1A_HUMAN, Q9HAT0 (See protein sequence)
Recommended Name: Ropporin-1A  
Size: 212 amino acids; 23893 Da
Subunit: Homodimer. Interacts with AKAP3 and RHPN1 (By similarity). May interact with SPA17
Developmental stage: Expressed in fetal liver
Miscellaneous: 'Ropporin' comes from the Japanese word 'oppo' which means 'tail'
Secondary accessions: D3DN99 Q9UF38
Alternative splicing: 2 isoforms:  Q9HAT0-1   Q9HAT0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ROPN1: NX_Q9HAT0

Explore proteomics data for ROPN1 at MOPED


See ROPN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_060048.2  
ENSEMBL proteins: 
 ENSP00000184183   ENSP00000385919   ENSP00000417067   ENSP00000420310   ENSP00000418931  
 ENSP00000420590   ENSP00000420567   ENSP00000417379   ENSP00000419205  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR003117 cAMP_dep_PK_reg_su_I/II_a/b

Graphical View of Domain Structure for InterPro Entry Q9HAT0

ProtoNet protein and cluster: Q9HAT0

UniProtKB/Swiss-Prot: ROP1A_HUMAN, Q9HAT0
Domain: The RIIa domain mediates interaction with AKAP3 (By similarity)
Similarity: Belongs to the ropporin family
Similarity: Contains 1 RIIa domain


ROPN1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for ROPN1:
 Increased cell number in G2M,  

     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ropn1):
 reproductive system  respiratory system 

ROPN1 for phenotypes           About GeneDecksing

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ROP1A_HUMAN, Q9HAT0: Note=In the sperm tail, found in the principal piece and in the cytoplasmic droplet located
at the distal end of the midpiece. Inner surface of the fibrous sheath (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
cytoskeleton1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ROPN1
Interactions:

    GeneGlobe Interaction Network for ROPN1

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for ROPN1 (Q9HAT03 ENSP000001841834) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
AKAP3O759693, ENSP000002288504I2D: score=2 STRING: ENSP00000228850
RHPN1Q8TCX53, ENSP000002890134I2D: score=1 STRING: ENSP00000289013
SPA17Q155063, ENSP000002271354I2D: score=2 STRING: ENSP00000227135
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for ROPN1 (ROP1A)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ROPN1 gene: 
NM_017578.2  

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000184183(uc003eha.3) ENST00000405845 ENST00000487124 ENST00000467907
ENST00000460743 ENST00000496145 ENST00000459660(uc003ehb.2) ENST00000479867(uc003ehc.2)
ENST00000495093 ENST00000484329
miRNA
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hsa-miR-141* hsa-miR-3647-3p
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Inhib. RNA
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23 AceView cDNA sequences:

BM554135 BI831090 BC015413 AF231410 BI828359 AL037365 BG034740 BG719581 
BM559594 BI826006 CB989847 BG719580 AA506126 BG771571 BG704322 BG719672 
BM552738 BI830464 BE894254 BI560054 BI828708 AI016755 CD708847 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ROPN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAACAGGAAG
ROPN1 Expression
About this image


ROPN1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Testis (Reproductive System)    fully expand to see all 2 entries
         Mature Sertoli Cells Seminiferous Tubules
 
 Trophoblast (Extraembryonic Tissues)
         Trophoblast Cells Trophoblast
 
 Bone (Muscoskeletal System)
         Bone Marrow
 
 Brain (Nervous System)
         Cerebral Cortex
ROPN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ROPN1 Protein Expression

UniProtKB/Swiss-Prot: ROP1A_HUMAN, Q9HAT0
Tissue specificity: Testis specific in adult. Overexpressed in hematologic tumor cells

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ROPN1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for ROPN1 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ropn11 , 5 ropporin, rhophilin associated protein 11, 5 85.53(n)1
83.49(a)1
  16 (24.44 cM)5
763781  NM_030744.21  NP_109669.11 
 346499215 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
77(a)
1 → many
1(78869602-78919632)


ENSEMBL Gene Tree for ROPN1 (if available)
TreeFam Gene Tree for ROPN1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ROPN1 gene
ROPN1L2  ROPN1B2  
2 SIMAP similar genes for ROPN1 using alignment to 4 protein entries:     ROP1A_HUMAN (see all proteins):
ROPN1B    ROPN1L

ROPN1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ROPN1 (see all 444)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 3 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1822070081,2
--123687548(+) CTAACC/GTCAAT 1 -- int10--------
rs1875612781,2
--123687593(+) AGCACA/GGTACC 1 -- int10--------
rs1920049681,2
--123687634(+) TCAATG/TGACCA 1 -- int10--------
rs1835552161,2
--123687732(+) AGTCTA/GGCTTT 1 -- int10--------
rs1140291301,2
C,F--123687876(+) TCATAT/CGTTTA 1 -- spd11Minor allele frequency- C:0.03WA 118
rs3774028361,2
C--123687960(+) GTACAA/GTCATC 1 -- ut310--------
rs178424751,2
C,F,H--123688032(+) TGGGTA/GAAGTC 2 F syn116Minor allele frequency- G:0.05NA NS EA CSA WA 6004
rs2007236041,2
--123688080(+) GGAAAA/GAGGTA 1 -- int10--------
rs1996492461,2
--123688081(+) GAAAAA/GGGTAT 1 -- int10--------
rs2018761151,2
C--123688083(+) AAAAGG/ATATAT 1 -- int11Minor allele frequency- A:0.00EU 1319

HapMap Linkage Disequilibrium report for ROPN1 (123687368 - 123711025 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for ROPN1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv877397CNV Gain21882294
nsv460837CNV Gain19166990

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ROPN1
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611757    OMIM disorders: --

2 diseases for ROPN1:    
About MalaCards
multiple myeloma    myeloma


ROPN1 for disorders           About GeneDecksing

Genetic Association Database (GAD): ROPN1
Human Genome Epidemiology (HuGE) Navigator: ROPN1 (1 document)

Export disorders for ROPN1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ROPN1 gene, integrated from 10 sources (see all 13):
(articles sorted by number of sources associating them with ROPN1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A yeast two-hybrid system using Sp17 identified ropporin as a novel cancer-testis antigen in hematologic malignancies. (PubMed id 17551920)1, 2, 9 Li Z.... Lim S.H. (Int. J. Cancer 2007)
  2. Kalirin: a novel genetic risk factor for ischemic stroke. (PubMed id 20107840)1, 4, 9 Krug T....Oliveira S.A. (Hum. Genet. 2010)
  3. Ropporin, a sperm-specific binding protein of rhophilin, that is localized in the fibrous sheath of sperm flagella. (PubMed id 10591629)1, 3 Fujita A....Narumiya S. (J. Cell. Sci. 2000)
  4. Identification of sperm-specific proteins that interact with A-kinase anchoring proteins in a manner similar to the type II regulatory subunit of PKA. (PubMed id 11278869)1, 9 Carr D.W....Narumiya S. (J. Biol. Chem. 2001)
  5. Loss of ASP but not ROPN1 reduces mammalian ciliary motility. (PubMed id 22021175)1 Fiedler S.E....Carr D.W. (Cytoskeleton (Hoboken) 2012)
  6. CABYR binds to AKAP3 and Ropporin in the human sperm fibrous sheath. (PubMed id 21240291)1 Li Y.F....Herr J.C. (Asian J. Androl. 2011)
  7. Cancer testis antigen, ropporin, is a potential target for multiple myeloma immunotherapy. (PubMed id 21654522)1 Chiriva-Internati M....Cobos E. (J. Immunother. 2011)
  8. Functional expression of ropporin in human testis and ejaculated spermatozoa. (PubMed id 20705794)1 Chen J....Cai Z. (J. Androl. 2011)
  9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 54763 HGNC: 17692 AceView: LOC152015 Ensembl:ENSG00000065371 euGenes: HUgn54763
ECgene: ROPN1 H-InvDB: ROPN1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ROPN1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ROPN1 gene:
Search GeneIP for patents involving ROPN1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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