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RAD1 Gene(Protein Coding)

RAD1 Checkpoint DNA Exonuclease

GCID:
GC05M034905
GIFtS:
47
Genes Participants
UDN Logo

Aliases for RAD1 Gene

Aliases for RAD1 Gene

  • RAD1 Checkpoint DNA Exonuclease 2 3 5
  • Rad1-Like DNA Damage Checkpoint Protein 3 4
  • Cell Cycle Checkpoint Protein Hrad1 2 3
  • DNA Repair Exonuclease Rad1 Homolog 3 4
  • Checkpoint Control Protein HRAD1 2 3
  • RAD1 Checkpoint Clamp Component 2 3
  • DNA Repair Exonuclease REC1 2 3
  • Exonuclease Homolog RAD1 2 3
  • HRAD1 3 4
  • REC1 3 4
  • Cell Cycle Checkpoint Protein RAD1 3
  • Rad1-Like DNA Damage Checkpoint 2
  • RAD1 (S. Pombe) Homolog 2
  • RAD1 Homolog (S. Pombe) 2
  • RAD1 Homolog 3
  • EC 3.1.11.2 4

External Ids for RAD1 Gene

Previous GeneCards Identifiers for RAD1 Gene

  • GC05M034941
  • GC05M035934
  • GC05M034953
  • GC05M034944
  • GC05M034854

Summaries for RAD1 Gene

Entrez Gene Summary for RAD1 Gene

  • This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]

GeneCards Summary for RAD1 Gene

RAD1 (RAD1 Checkpoint DNA Exonuclease) is a Protein Coding gene. Diseases associated with RAD1 include Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked. Among its related pathways are Regulation of Telomerase and Homologous DNA Pairing and Strand Exchange. Gene Ontology (GO) annotations related to this gene include damaged DNA binding and exodeoxyribonuclease III activity.

UniProtKB/Swiss-Prot for RAD1 Gene

  • Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair (PubMed:10846170, PubMed:10884395). The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex (PubMed:12578958). Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER) (PubMed:15871698). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates (PubMed:15314187, PubMed:15556996, PubMed:15871698). The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase (PubMed:21659603). Isoform 1 possesses 3->5 double stranded DNA exonuclease activity (PubMed:9660799).

Gene Wiki entry for RAD1 Gene

Additional gene information for RAD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAD1 Gene

Genomics for RAD1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for RAD1 Gene

Promoters and enhancers for RAD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH05I034913 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +3.1 3109 4.4 CLOCK FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SSRP1 BRIX1 RAD1 DNAJC21 TTC23L GC05P034888
GH05I035777 Enhancer 1.2 Ensembl ENCODE dbSUPER 9.9 -858.8 -858812 0.4 ZNF529 ZFP64 RAD21 ZNF121 ZNF213 ZNF143 ZNF202 ZNF680 ZNF362 SP3 BRIX1 LOC105374724 LOC100506406 CAPSL SKP2 RAD1 RNU7-130P SPEF2
GH05I035022 Enhancer 0.6 ENCODE 13.1 -104.6 -104578 1.3 SCRT1 ZNF555 RXRA MAX ZC3H11A HNF4A ZNF781 ZNF518A YY1 RAD1 AGXT2 DNAJC21
GH05I034922 Enhancer 1.2 Ensembl ENCODE 0.8 -4.9 -4879 2.5 ATF1 ARNT FEZF1 ZNF2 TCF12 ZNF766 E2F8 ATF7 FOS RUNX3 DNAJC21 BRIX1 LOC643373 RAD1 GC05P034888
GH05I034914 Enhancer 0.2 ENCODE 0.4 +5.6 5628 0.1 BRIX1 RAD1 PIR35041 GC05P034888
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAD1 gene promoter:

Genomic Locations for RAD1 Gene

Genomic Locations for RAD1 Gene
chr5:34,905,260-34,918,989
(GRCh38/hg38)
Size:
13,730 bases
Orientation:
Minus strand
chr5:34,905,365-34,919,094
(GRCh37/hg19)

Genomic View for RAD1 Gene

Genes around RAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RAD1 Gene

Proteins for RAD1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60671-RAD1_HUMAN
    Recommended name:
    Cell cycle checkpoint protein RAD1
    Protein Accession:
    O60671
    Secondary Accessions:
    • O75572
    • O95304
    • Q1W161
    • Q5KSM0
    • Q5KSM1
    • Q9UEP1

    Protein attributes for RAD1 Gene

    Size:
    282 amino acids
    Molecular mass:
    31827 Da
    Quaternary structure:
    • Component of the toroidal 9-1-1 (RAD9-RAD1-HUS1) complex, composed of RAD9A, RAD1 and HUS1 (PubMed:10846170, PubMed:10884395). The 9-1-1 complex associates with LIG1, POLB, FEN1, RAD17, HDAC1, RPA1 and RPA2 (PubMed:10846170, PubMed:10884395, PubMed:15314187, PubMed:15556996, PubMed:15871698, PubMed:15897895, PubMed:16216273). The 9-1-1 complex associates with the RAD17-RFC complex (PubMed:12578958). RAD1 interacts with POLB, FEN1, HUS1, HUS1B, RAD9A and RAD9B (PubMed:10359610, PubMed:10777662, PubMed:11944979, PubMed:14500360, PubMed:14611806, PubMed:15314187, PubMed:15556996, PubMed:16216273). Interacts with DNAJC7 (PubMed:11573955).
    SequenceCaution:
    • Sequence=AAC35550.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAC35550.1; Type=Frameshift; Positions=103; Evidence={ECO:0000305}; Sequence=CAA06249.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA06249.1; Type=Frameshift; Positions=103; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAD1 Gene

    Alternative splice isoforms for RAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAD1 Gene

Protein Expression for RAD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RAD1 Gene

  • Ubiquitination at isoforms=2, 346
  • Modification sites at PhosphoSitePlus

Other Protein References for RAD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAD1 Gene

Domains & Families for RAD1 Gene

Gene Families for RAD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for RAD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RAD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60671

UniProtKB/Swiss-Prot:

RAD1_HUMAN :
  • Belongs to the rad1 family.
Family:
  • Belongs to the rad1 family.
genes like me logo Genes that share domains with RAD1: view

Function for RAD1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for RAD1 Gene

GENATLAS Biochemistry:
cell cycle G2 checkpoint control gene,also involved in DNA repair,homologous to RAD17,S pombe Rad1,S.cerevisiae,with two alternatively spliced isoforms (large RAD1-b and short RAD1-c),ubiquitously expressed,may be involved in lung carcinoma
UniProtKB/Swiss-Prot CatalyticActivity:
Exonucleolytic cleavage in the 3- to 5-direction to yield nucleoside 5-phosphates.
UniProtKB/Swiss-Prot Function:
Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair (PubMed:10846170, PubMed:10884395). The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex (PubMed:12578958). Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER) (PubMed:15871698). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates (PubMed:15314187, PubMed:15556996, PubMed:15871698). The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase (PubMed:21659603). Isoform 1 possesses 3->5 double stranded DNA exonuclease activity (PubMed:9660799).

Enzyme Numbers (IUBMB) for RAD1 Gene

Gene Ontology (GO) - Molecular Function for RAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding TAS 9872989
GO:0004518 nuclease activity IEA --
GO:0004527 exonuclease activity IEA --
GO:0005515 protein binding IPI 10359610
GO:0008408 3-5 exonuclease activity IDA 9660799
genes like me logo Genes that share ontologies with RAD1: view
genes like me logo Genes that share phenotypes with RAD1: view

Animal Models for RAD1 Gene

MGI Knock Outs for RAD1:
  • Rad1 tm1b(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for RAD1

miRNA for RAD1 Gene

miRTarBase miRNAs that target RAD1

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAD1 Gene

Localization for RAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAD1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
extracellular 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC,IEA 9660799
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IDA 9716408
GO:0030896 checkpoint clamp complex IBA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with RAD1: view

Pathways & Interactions for RAD1 Gene

genes like me logo Genes that share pathways with RAD1: view

SIGNOR curated interactions for RAD1 Gene

Activates:

Gene Ontology (GO) - Biological Process for RAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IMP 21659603
GO:0006260 DNA replication TAS --
GO:0006281 DNA repair IBA --
GO:0006974 cellular response to DNA damage stimulus TAS 9872989
GO:0021762 substantia nigra development IEP,HEP 22926577
genes like me logo Genes that share ontologies with RAD1: view

Drugs & Compounds for RAD1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for RAD1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RAD1 Gene

(4) REFSEQ mRNAs :
(21) Additional mRNA sequences :
(213) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RAD1 Gene

RAD1 homolog (S. pombe):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1: - -
SP2:
SP3: - - - - -
SP4: - - -
SP5:

Relevant External Links for RAD1 Gene

GeneLoc Exon Structure for
RAD1
ECgene alternative splicing isoforms for
RAD1

Expression for RAD1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAD1 Gene

mRNA expression in normal human tissues for RAD1 Gene
mRNA expression by GTEx for RAD1 GenemRNA expression by BioGPS for RAD1 Gene

Protein differential expression in normal tissues from HIPED for RAD1 Gene

This gene is overexpressed in Blymphocyte (15.2), Lymph node (12.7), Salivary gland (8.1), Adrenal (7.9), and CD8 Tcells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RAD1 Gene:

RAD1

SOURCE GeneReport for Unigene cluster for RAD1 Gene:

Hs.38114

mRNA Expression by UniProt/SwissProt for RAD1 Gene:

O60671-RAD1_HUMAN
Tissue specificity: Expressed in testis, uterus, bladder, spleen, ovaries, lung, brain and muscle (at protein level).

Evidence on tissue expression from TISSUES for RAD1 Gene

  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with RAD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAD1 Gene

Orthologs for RAD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia RAD1 33 34
  • 99.88 (n)
cow
(Bos Taurus)
 Mammalia RAD1 33 34
  • 92.47 (n)
dog
(Canis familiaris)
 Mammalia RAD1 34 33
  • 92.17 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia RAD1 34
  • 89 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia RAD1 34
  • 88 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Rad1 33 16 34
  • 87.26 (n)
rat
(Rattus norvegicus)
 Mammalia Rad1 33
  • 87.26 (n)
chicken
(Gallus gallus)
 Aves RAD1 33 34
  • 75.24 (n)
lizard
(Anolis carolinensis)
 Reptilia RAD1 34
  • 88 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia rad1 33
  • 73.69 (n)
Str.15014 33
African clawed frog
(Xenopus laevis)
 Amphibia Rad1 33
zebrafish
(Danio rerio)
 Actinopterygii rad1 33 34
  • 68.82 (n)
zgc77779 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2152 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002255 33
  • 44.4 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Rad1 33 34
  • 44.36 (n)
worm
(Caenorhabditis elegans)
 Secernentea mrt-2 33 34
  • 45.43 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.9754 34
  • 60 (a)
 OneToOne
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes rad1 33
  • 44.96 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU00942 33
  • 42.35 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4289 33
Species where no ortholog for RAD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAD1 Gene

ENSEMBL:
Gene Tree for RAD1 (if available)
TreeFam:
Gene Tree for RAD1 (if available)

Paralogs for RAD1 Gene

Pseudogenes.org Pseudogenes for RAD1 Gene

genes like me logo Genes that share paralogs with RAD1: view

No data available for Paralogs for RAD1 Gene

Variants for RAD1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for RAD1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000154959 -- 34,916,318(-) G/A upstream_transcript_variant
rs1000450483 -- 34,916,667(-) A/C upstream_transcript_variant
rs1000792447 -- 34,905,978(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1001577269 -- 34,916,337(-) G/A upstream_transcript_variant
rs1001629751 -- 34,916,128(-) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RAD1 Gene

Variant ID Type Subtype PubMed ID
dgv5629n100 CNV gain 25217958
esv3604679 CNV gain 21293372
esv3604690 CNV gain 21293372
nsv597809 CNV gain 21841781

Variation tolerance for RAD1 Gene

Residual Variation Intolerance Score: 34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAD1 Gene

Disorders for RAD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAD1 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RAD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAD1 Gene

Publications for RAD1 Gene

  1. Human and mouse homologs of Schizosaccharomyces pombe rad1(+) and Saccharomyces cerevisiae RAD17: linkage to checkpoint control and mammalian meiosis. (PMID: 9716408) Freire R … Jackson SP (Genes & development 1998) 2 3 4 22 58
  2. A human and mouse homolog of the Schizosaccharomyces pombe rad1+ cell cycle checkpoint control gene. (PMID: 9828137) Bluyssen HA … de Klein A (Genomics 1998) 2 3 4 22 58
  3. Interaction and colocalization of Rad9/Rad1/Hus1 checkpoint complex with replication protein A in human cells. (PMID: 15897895) Wu X … Zou Y (Oncogene 2005) 3 4 22 58
  4. The human Rad9/Rad1/Hus1 damage sensor clamp interacts with DNA polymerase beta and increases its DNA substrate utilisation efficiency: implications for DNA repair. (PMID: 15314187) Toueille M … Hübscher U (Nucleic acids research 2004) 3 4 22 58
  5. Expression of mammalian paralogues of HRAD9 and Mrad9 checkpoint control genes in normal and cancerous testicular tissue. (PMID: 14500360) Hopkins KM … Lieberman HB (Cancer research 2003) 3 4 22 58

Products for RAD1 Gene

Sources for RAD1 Gene

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