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RIF1 Gene

protein-coding   GIFtS: 51
GCID: GC02P152266

RAP1 Interacting Factor Homolog (Yeast)

  See RIF1-related disease
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
RAP1 Interacting Factor Homolog (Yeast)1 2
Rap1-Interacting Factor 1 Homolog2 3
Telomere-Associated Protein RIF12

External Ids:    HGNC: 232071   Entrez Gene: 551832   Ensembl: ENSG000000803457   OMIM: 6089525   UniProtKB: Q5UIP03   

Export aliases for RIF1 gene to outside databases

Previous GC identifers: GC01M110591 GC01M110788 GC01M111201 GC02P152093 GC02P151974 GC02P144162


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RIF1 Gene:
This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor
1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in
multiple transcript variants. (provided by RefSeq, Apr 2010)

GeneCards Summary for RIF1 Gene:
RIF1 (RAP1 interacting factor homolog (yeast)) is a protein-coding gene. Diseases associated with RIF1 include candida glabrata.

UniProtKB/Swiss-Prot: RIF1_HUMAN, Q5UIP0
Function: Required for checkpoint mediated arrest of cell cycle progression in response to DNA damage during
S-phase (the intra-S-phase checkpoint). This checkpoint requires activation of at least 2 parallel pathways by
the ATM kinase: one involves the MRN (MRE11A-RAD50-NBS1) complex, while the second requires CHEK2. RIF1 seems to
act independently of both these pathways. Seems to play no role in either the G1/S or G2/M DNA damage checkpoints

Gene Wiki entry for RIF1 Gene


(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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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RIF1 gene promoter:
         TBP   p53   ATF-2   CUTL1   YY1   CREB   CRE-BP1   deltaCREB   HFH-1   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RIF1 promoter sequence
   Search Chromatin IP Primers for RIF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RIF1


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

Entrez Gene cytogenetic band: 2q23.3   Ensembl cytogenetic band:  2q23.3   HGNC cytogenetic band: 2q23.3

RIF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIF1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P152266:  view genomic region     (about GC identifiers)

Start:
152,266,397 bp from pter      End:
152,364,527 bp from pter
Size:
98,131 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RIF1_HUMAN, Q5UIP0 (See protein sequence)
Recommended Name: Telomere-associated protein RIF1  
Size: 2472 amino acids; 274466 Da
Developmental stage: Expression peaks in late G2/S phase of the cell cycle
Sequence caution: Sequence=BAA91705.1; Type=Erroneous initiation; Sequence=BAB14313.1; Type=Erroneous initiation;
Sequence=BAB14792.1; Type=Erroneous initiation; Sequence=BAB85058.1; Type=Erroneous initiation;
Sequence=CAI45961.1; Type=Frameshift; Positions=470;
Secondary accessions: A6NC27 C9JBR1 Q5H9R3 Q5UIP2 Q66YK6 Q6PRU2 Q8TE94 Q99772 Q9H830 Q9H9B9
Q9NVP5 Q9Y4R4
Alternative splicing: 2 isoforms:  Q5UIP0-1   Q5UIP0-2   

Explore the universe of human proteins at neXtProt for RIF1: NX_Q5UIP0

Explore proteomics data for RIF1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys125, Lys198, Lys251, Lys702, Lys2328
  • Modification sites at PhosphoSitePlus

  • See RIF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001171134.1  NP_001171135.1  NP_001171136.1  NP_060621.3  

    ENSEMBL proteins: 
     ENSP00000390181   ENSP00000414615   ENSP00000415691   ENSP00000400034   ENSP00000243326  
     ENSP00000390486   ENSP00000416123   ENSP00000404882   ENSP00000396865  

    RIF1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RIF1

     
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    Search eBioscience for ELISAs for RIF1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR028566 Rif1
     IPR011989 ARM-like
     IPR028567 Rif1_metazoan
     IPR022031 Rif1_N
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q5UIP0

    ProtoNet protein and cluster: Q5UIP0


    Find genes that share domains with RIF1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RIF1_HUMAN, Q5UIP0
    Function: Required for checkpoint mediated arrest of cell cycle progression in response to DNA damage during
    S-phase (the intra-S-phase checkpoint). This checkpoint requires activation of at least 2 parallel pathways by
    the ATM kinase: one involves the MRN (MRE11A-RAD50-NBS1) complex, while the second requires CHEK2. RIF1 seems to
    act independently of both these pathways. Seems to play no role in either the G1/S or G2/M DNA damage checkpoints

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with RIF1           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Rif1):
     cellular  embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  normal  reproductive system 

    Find genes that share phenotypes with RIF1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rif1tm2Sbcb for RIF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RIF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RIF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RIF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RIF1

    miRNA
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    miRTarBase miRNAs that target RIF1:
    hsa-mir-93-5p (MIRT048790), hsa-mir-421 (MIRT039429), hsa-mir-155-5p (MIRT020847), hsa-mir-24-3p (MIRT050377), hsa-mir-183-5p (MIRT047132), hsa-mir-16-5p (MIRT031776), hsa-mir-103a-3p (MIRT027046), hsa-mir-186-5p (MIRT044974)

    Block miRNA regulation of human, mouse, rat RIF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RIF1 (see all 28):
    hsa-miR-4307 hsa-miR-607 hsa-miR-300 hsa-miR-15a hsa-miR-503 hsa-miR-340 hsa-miR-218 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidRIF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RIF1

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    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RIF1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIF1


    (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
    RIF1_HUMAN, Q5UIP0: Nucleus. Chromosome, telomere. Cytoplasm, cytoskeleton, spindle. Note=Exhibits ATM- and
    TP53BP1-dependent localization to uncapped or aberrant telomeres and to DNA double strand breaks (DSBs). Does not
    associate with normal telomere structures. Localizes to microtubules of the midzone of the mitotic spindle during
    anaphase, and to condensed chromosomes in telophase
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol2
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IEA--
    GO:0001939female pronucleus IEA--
    GO:0001940male pronucleus IEA--
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--

    Find genes that share ontologies with RIF1           About GenesLikeMe


    (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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    SuperPaths for RIF1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RIF1
        Transcriptional Regulatory Network in Embryonic Stem Cell


        Pathway & Disease-focused RT2 Profiler PCR Array including RIF1: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for RIF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RIF1 (Q5UIP02, 3 ENSP000002433264) via UniProtKB, MINT, STRING, and/or I2D (see all 922)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLMP541322, 3, ENSP000003472324MINT-8049128 MINT-8048995 MINT-8048961 MINT-8049038 MINT-8048980 MINT-7945693 MINT-8049010 MINT-8049107 I2D: score=1 STRING: ENSP00000347232
    SMN1Q166372, 3MINT-7947479 MINT-7945693 I2D: score=1 
    SMN2Q166372, 3MINT-7947479 MINT-7945693 I2D: score=1 
    RANBP2P497922, 3MINT-7947479 MINT-7945693 I2D: score=2 
    CHD3Q128732, 3, ENSP000003697164MINT-7945693 I2D: score=1 STRING: ENSP00000369716
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000077DNA damage checkpoint ----
    GO:0006974cellular response to DNA damage stimulus IEA--
    GO:0007049cell cycle IEA--
    GO:0019827stem cell maintenance IEA--

    Find genes that share ontologies with RIF1           About GenesLikeMe



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RIF1



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RIF1 gene (4 alternative transcripts): 
    NM_001177663.1  NM_001177664.1  NM_001177665.1  NM_018151.4  

    Unigene Cluster for RIF1:

    RAP1 interacting factor homolog (yeast)
    Hs.655671  [show with all ESTs]
    Unigene Representative Sequence: NM_001177665
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000444746(uc010fnv.2 uc002txp.3) ENST00000453091 ENST00000428287(uc010zby.1)
    ENST00000494333 ENST00000420714 ENST00000243326(uc002txm.3 uc002txn.3 uc002txl.3 uc002txo.3)
    ENST00000414861 ENST00000430328 ENST00000498041 ENST00000454583 ENST00000457745
    ENST00000484077 ENST00000467762 ENST00000433166
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RIF1 (see all 28):
    hsa-miR-4307 hsa-miR-607 hsa-miR-300 hsa-miR-15a hsa-miR-503 hsa-miR-340 hsa-miR-218 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidRIF1 3' UTR sequence
    Inhib. RNA
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RIF1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RIF1
      QuantiTect SYBR Green Assays in human, mouse, rat RIF1
      QuantiFast Probe-based Assays in human, mouse, rat RIF1

    Additional mRNA sequence: 

    AK000323.1 AK001461.1 AK022932.1 AK024033.1 AK074349.1 AK299291.1 AK299572.1 AY584066.1 
    AY585745.1 AY727910.1 AY727911.1 AY727912.1 AY727913.1 BC072675.1 BX648324.1 CR933663.1 
    U79263.1 

    11 DOTS entries:

    DT.95080796  DT.111069  DT.424132  DT.95375555  DT.421672  DT.100642815  DT.100736202  DT.97824489 
    DT.100788823  DT.102824328  DT.91706270 

    Selected AceView cDNA sequences (see all 144):

    BC008115 CK902368 CR620638 CB988725 C04995 BQ787643 AW957450 CF264904 
    AU185993 AA142902 AK001826 BM469792 BM989305 BM769098 AL834466 AU138736 
    AA335643 BX089321 AI123216 BU192014 AW451750 CR615710 BQ787820 BG282629 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RIF1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^
    SP1:                    -                                                     -                                                                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b
    SP1:                                          
    SP2:                                          
    SP3:        -                                 
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for RIF1

    (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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    RIF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTAGCTCTA
    RIF1 Expression
    About this image


    RIF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Metanephros
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    RIF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RIF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655671

    UniProtKB/Swiss-Prot: RIF1_HUMAN, Q5UIP0
    Tissue specificity: Highly expressed in testis

        Pathway & Disease-focused RT2 Profiler PCR Array including RIF1: 
              Telomeres & Telomerase in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIF1

    (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 animals.

    Orthologs for RIF1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rif11 , 5 Rap1 interacting factor 1 homolog (yeast)1, 5 79.99(n)1
    72.46(a)1
      2 (29.98 cM)5
    518691  NM_175238.51  NP_780447.41 
     520728425 
    chicken
    (Gallus gallus)
    Aves RIF11 RAP1 interacting factor homolog (yeast) 64.07(n)
    59.46(a)
      424316  XM_422162.4  XP_422162.3 
    lizard
    (Anolis carolinensis)
    Reptilia RIF16
    RAP1 interacting factor homolog (yeast)
    47(a)
    1 ↔ 1
    GL343302.1(1323368-1360771)
    zebrafish
    (Danio rerio)
    Actinopterygii rif16
    RAP1 interacting factor homolog (yeast)
    38(a)
    1 ↔ 1
    9(23814364-23835517) ENSDARG00000062650
    fruit fly
    (Drosophila melanogaster)
    Insecta CG300856
    --
    21(a)
    1 ↔ 1
    2R(11751809-11756650)


    ENSEMBL Gene Tree for RIF1 (if available)
    TreeFam Gene Tree for RIF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 RIF1 (see all 1746)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359844
    A breast cancer sample4--see VAR_0359842 D H mis40--------
    VAR_0359834
    A breast cancer sample4--see VAR_0359832 E K mis40--------
    rs1466721081,2
    --152264500(+) AAAATC/TAGCTG 3 -- us2k10--------
    rs75988551,2
    C,F--152264634(+) TAGAGC/TGAGAC 4 -- us2k12Minor allele frequency- T:0.50NA 4
    rs1132896331,2
    C,F--152264635(+) AGAGCG/AAGACT 4 -- us2k11Minor allele frequency- A:0.50WA 2
    rs106306591,2
    C--152264678(+) AAAAAA/TATATA 4 -- us2k1 tfbs3 trp30--------
    rs123736371,2
    --152264701(+) tatatA/Gtatat 4 -- us2k10--------
    rs75743021,2
    C,A--152264715(+) TATATA/GTATGT 4 -- us2k10--------
    rs1807112771,2
    --152264729(+) TGTGTA/GTATAT 4 -- us2k10--------
    rs1177370631,2
    C,F--152264821(+) ACTGCG/ATCGTT 4 -- us2k11Minor allele frequency- A:0.03EA 120

    HapMap Linkage Disequilibrium report for RIF1 (152266397 - 152364527 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RIF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2467988CNV Deletion19546169
    nsv438374CNV Loss16468122
    esv34659CNV Loss17911159
    nsv437298CNV Loss16327808
    nsv834418CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RIF1
    DNA2.0 Custom Variant and Variant Library Synthesis for RIF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608952    OMIM disorders: --

    1 disease for RIF1:    
    About MalaCards
    candida glabrata


    Find genes that share disorders with RIF1           About GenesLikeMe

    Genetic Association Database (GAD): RIF1
    Human Genome Epidemiology (HuGE) Navigator: RIF1 (3 documents)

    Export disorders for RIF1 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 RIF1 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with RIF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Rif1, ortholog of a yeast telomeric protein, is regulated by ATM and 53BP1 and functions in the S-phase checkpoint. (PubMed id 15342490)1, 2, 3, 9 Silverman J.... De Lange T. (Genes Dev. 2004)
    2. Human Rif1 protein binds aberrant telomeres and aligns along anaphase midzone microtubules. (PubMed id 15583028)1, 2, 9 Xu L. and Blackburn E.H. (J. Cell Biol. 2004)
    3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 2 Yu W.... Gibbs R.A. (Genome Res. 1997)
    8. Human RIF1 encodes an anti-apoptotic factor required for DNA repair. (PubMed id 19483192)1, 9 Wang H....Xu X. (Carcinogenesis 2009)
    9. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    10. A cell cycle-dependent regulatory circuit composed of 53BP1-RIF1 and BRCA1-CtIP controls DNA repair pathway choice. (PubMed id 23333306)1 Escribano-DA-az C....Durocher D. (Mol. Cell 2013)

    (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: 55183 HGNC: 23207 AceView: RIF1 Ensembl:ENSG00000080345 euGenes: HUgn55183
    ECgene: RIF1 H-InvDB: RIF1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for RIF1 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 RIF1 gene:
    Search GeneIP for patents involving RIF1

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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