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Aliases for RIF1 Gene

Aliases for RIF1 Gene

  • Replication Timing Regulatory Factor 1 2 3 5
  • RAP1 Interacting Factor Homolog (Yeast) 2
  • Rap1-Interacting Factor 1 Homolog 4

External Ids for RIF1 Gene

Previous GeneCards Identifiers for RIF1 Gene

  • GC01M110591
  • GC01M110788
  • GC01M111201
  • GC02P152093
  • GC02P151974
  • GC02P152266
  • GC02P144162

Summaries for RIF1 Gene

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 (Replication Timing Regulatory Factor 1) is a Protein Coding gene. Diseases associated with RIF1 include Candida Glabrata. Among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and DNA Double Strand Break Response. GO annotations related to this gene include binding.

UniProtKB/Swiss-Prot for RIF1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIF1 Gene

Genomics for RIF1 Gene

Regulatory Elements for RIF1 Gene

Enhancers for RIF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F151474 0.6 Ensembl 28.3 +65.4 65418 1.0 RIF1 GC02P151476 PIR42149
GH02F151408 0.8 ENCODE 25.1 +0.1 66 3.2 PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 RBM43 STAM2 RIF1 RPL30P2 RND3 PIR42149
GH02F151525 0.2 Ensembl 24 +116.1 116118 0.4 RIF1 GC02P151476 NEB
GH02F151520 0.2 ENCODE 23.2 +112.0 111954 2.3 GATAD2A SOX13 FOXA3 SIN3A ZNF384 CEBPG ZNF644 PPARG ZNF664 JUND RIF1 GC02P151476 NEB
GH02F151559 0.2 ENCODE 19.3 +150.5 150468 1.0 NR2F1 IKZF1 ZNF175 NR2F6 RIF1 GC02P151476 NEB
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RIF1 on UCSC Golden Path with GeneCards custom track

Promoters for RIF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001547525 617 2201 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS

Genomic Location for RIF1 Gene

Chromosome:
2
Start:
151,409,883 bp from pter
End:
151,534,202 bp from pter
Size:
124,320 bases
Orientation:
Plus strand

Genomic View for RIF1 Gene

Genes around RIF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIF1 Gene

Proteins for RIF1 Gene

  • Protein details for RIF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5UIP0-RIF1_HUMAN
    Recommended name:
    Telomere-associated protein RIF1
    Protein Accession:
    Q5UIP0
    Secondary Accessions:
    • A6NC27
    • C9JBR1
    • Q5H9R3
    • Q5UIP2
    • Q66YK6
    • Q6PRU2
    • Q8TE94
    • Q99772
    • Q9H830
    • Q9H9B9
    • Q9NVP5
    • Q9Y4R4

    Protein attributes for RIF1 Gene

    Size:
    2472 amino acids
    Molecular mass:
    274466 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91705.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14313.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14792.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB85058.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI45961.1; Type=Frameshift; Positions=470; Evidence={ECO:0000305};

    Alternative splice isoforms for RIF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIF1 Gene

Post-translational modifications for RIF1 Gene

  • Ubiquitination at Lys 125, Lys 198, Lys 251, Lys 702, and Lys 2328
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RIF1 (RIF1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for RIF1

No data available for DME Specific Peptides for RIF1 Gene

Domains & Families for RIF1 Gene

Protein Domains for RIF1 Gene

Suggested Antigen Peptide Sequences for RIF1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RIF1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for RIF1 Gene

Function for RIF1 Gene

Molecular function for RIF1 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with RIF1: view

Animal Models for RIF1 Gene

MGI Knock Outs for RIF1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RIF1 Gene

Localization for RIF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIF1 Gene

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
Jensen Localization Image for RIF1 Gene COMPARTMENTS Subcellular localization image for RIF1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0000793 condensed chromosome IDA 15583028
GO:0001939 female pronucleus IEA --
GO:0001940 male pronucleus IEA --
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with RIF1: view

Pathways & Interactions for RIF1 Gene

genes like me logo Genes that share pathways with RIF1: view

Pathways by source for RIF1 Gene

1 Cell Signaling Technology pathway for RIF1 Gene

Gene Ontology (GO) - Biological Process for RIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
GO:0019827 stem cell population maintenance IEA --
genes like me logo Genes that share ontologies with RIF1: view

No data available for SIGNOR curated interactions for RIF1 Gene

Transcripts for RIF1 Gene

Unigene Clusters for RIF1 Gene

RAP1 interacting factor homolog (yeast):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIF1 Gene

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:

Relevant External Links for RIF1 Gene

GeneLoc Exon Structure for
RIF1
ECgene alternative splicing isoforms for
RIF1

Expression for RIF1 Gene

mRNA expression in normal human tissues for RIF1 Gene

Protein differential expression in normal tissues from HIPED for RIF1 Gene

This gene is overexpressed in Nasal epithelium (41.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RIF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RIF1 Gene:

RIF1

SOURCE GeneReport for Unigene cluster for RIF1 Gene:

Hs.655671

mRNA Expression by UniProt/SwissProt for RIF1 Gene:

Q5UIP0-RIF1_HUMAN
Tissue specificity: Highly expressed in testis.
genes like me logo Genes that share expression patterns with RIF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for RIF1 Gene

Orthologs for RIF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RIF1 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia RIF1 34 35
  • 86.16 (n)
cow
(Bos Taurus)
Mammalia RIF1 34 35
  • 86.12 (n)
mouse
(Mus musculus)
Mammalia Rif1 34 16 35
  • 79.99 (n)
rat
(Rattus norvegicus)
Mammalia Rif1 34
  • 79.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
-- 35
  • 54 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia RIF1 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIF1 34 35
  • 64.07 (n)
lizard
(Anolis carolinensis)
Reptilia RIF1 35
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rif1 35
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30085 35
  • 21 (a)
OneToOne
Species where no ortholog for RIF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RIF1 Gene

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

Paralogs for RIF1 Gene

No data available for Paralogs for RIF1 Gene

Variants for RIF1 Gene

Sequence variations from dbSNP and Humsavar for RIF1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_035983 A breast cancer sample
VAR_035984 A breast cancer sample
rs121913662 Pathogenic 151,490,495(-) GCCGG(A/G/T)AGCAG intron-variant, reference, missense, stop-gained
rs555445835 Pathogenic 151,494,212(+) GTGAC(-/AG)GGGTT intron-variant, reference, frameshift-variant
rs794727136 Pathogenic 151,493,781(-) AAACT(-/TT)AGCTC intron-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for RIF1 Gene

Variant ID Type Subtype PubMed ID
dgv4094n100 CNV gain 25217958
esv2467988 CNV deletion 19546169
esv34659 CNV loss 17911159
nsv1012891 CNV gain 25217958
nsv437298 CNV loss 16327808
nsv438374 CNV loss 16468122
nsv834418 CNV gain 17160897

Variation tolerance for RIF1 Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.43; 63.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RIF1 Gene

Human Gene Mutation Database (HGMD)
RIF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIF1 Gene

Disorders for RIF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RIF1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
candida glabrata
- elite association - COSMIC cancer census association via MalaCards
Search RIF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RIF1

Genetic Association Database (GAD)
RIF1
Human Genome Epidemiology (HuGE) Navigator
RIF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RIF1
genes like me logo Genes that share disorders with RIF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RIF1 Gene

Publications for RIF1 Gene

  1. Human Rif1, ortholog of a yeast telomeric protein, is regulated by ATM and 53BP1 and functions in the S-phase checkpoint. (PMID: 15342490) Silverman J. … De Lange T. (Genes Dev. 2004) 2 3 4 22 64
  2. Human Rif1 protein binds aberrant telomeres and aligns along anaphase midzone microtubules. (PMID: 15583028) Xu L. … Blackburn E.H. (J. Cell Biol. 2004) 3 4 22 64
  3. Rif1 regulates the replication timing domains on the human genome. (PMID: 22850674) Yamazaki S. … Masai H. (EMBO J. 2012) 2 3 64
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 64
  5. Human RIF1 encodes an anti-apoptotic factor required for DNA repair. (PMID: 19483192) Wang H. … Xu X. (Carcinogenesis 2009) 3 22 64

Products for RIF1 Gene

Sources for RIF1 Gene

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