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Aliases for RIF1 Gene

Aliases for RIF1 Gene

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

External Ids for RIF1 Gene

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.

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

Genomic Location for RIF1 Gene

Start:
151,409,883 bp from pter
End:
151,508,013 bp from pter
Size:
98,131 bases
Orientation:
Plus strand

Genomic View for RIF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RIF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIF1 Gene

Regulatory Elements 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

Proteomics data for RIF1 Gene at MOPED

Post-translational modifications for RIF1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys125, Lys198, Lys251, Lys702, and Lys2328

No data available for DME Specific Peptides for RIF1 Gene

Domains for RIF1 Gene

Protein Domains for RIF1 Gene

InterPro:
ProtoNet:
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.

Gene Ontology (GO) - Molecular Function for RIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with RIF1: view
genes like me logo Genes that share phenotypes with RIF1: view

Animal Models for RIF1 Gene

MGI Knock Outs for RIF1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytosol 2
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0001939 female pronucleus IEA --
GO:0001940 male pronucleus IEA --
GO:0005634 nucleus IDA --
GO:0005730 nucleolus --
genes like me logo Genes that share ontologies with RIF1: view

Pathways for RIF1 Gene

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

Pathways by source for RIF1 Gene

Gene Ontology (GO) - Biological Process for RIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
GO:0019827 stem cell maintenance IEA --
genes like me logo Genes that share ontologies with RIF1: view

Transcripts for RIF1 Gene

Unigene Clusters for RIF1 Gene

RAP1 interacting factor homolog (yeast):
Representative Sequences:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RIF1 Gene

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 expressions with RIF1: view

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 36
  • 99.45 (n)
  • 99.15 (a)
RIF1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RIF1 36
  • 86.12 (n)
  • 80.21 (a)
RIF1 37
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RIF1 36
  • 86.16 (n)
  • 79.6 (a)
RIF1 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rif1 36
  • 79.99 (n)
  • 72.46 (a)
Rif1 16
Rif1 37
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RIF1 37
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 73 (a)
OneToMany
-- 37
  • 54 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rif1 36
  • 79.61 (n)
  • 71.72 (a)
chicken
(Gallus gallus)
Aves RIF1 36
  • 64.07 (n)
  • 59.46 (a)
RIF1 37
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RIF1 37
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rif1 37
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30085 37
  • 21 (a)
OneToOne
Species with no ortholog for RIF1:
  • 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 MAF
rs13555 -- 151,476,790(+) TTTAA(A/C)CGTAA utr-variant-3-prime
rs1047957 -- 151,477,259(+) CTCTA(C/T)TGTGT utr-variant-3-prime
rs1065177 - 151,474,904(+) ACCTT(C/G)TGGCA reference, missense
rs1993206 -- 151,467,206(-) CTGTC(A/G)CCAGG intron-variant
rs2045025 -- 151,461,017(-) ATGAT(A/G)CTCAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv34659 CNV Loss 17911159
nsv834418 CNV Gain 17160897
esv2467988 CNV Deletion 19546169
nsv437298 CNV Loss 16327808
nsv438374 CNV Loss 16468122

Relevant External Links for RIF1 Gene

HapMap Linkage Disequilibrium report
RIF1
Human Gene Mutation Database (HGMD)
RIF1

Disorders for RIF1 Gene

(1) MalaCards Diseases for RIF1 Gene

Search for RIF1 Gene in MalaCards »

Relevant External Links for RIF1

Genetic Association Database (GAD)
RIF1
Human Genome Epidemiology (HuGE) Navigator
RIF1
genes like me logo Genes that share disorders with RIF1: view

No data available for UniProtKB/Swiss-Prot 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 23
  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 23
  3. Human RIF1 encodes an anti-apoptotic factor required for DNA repair. (PMID: 19483192) Wang H. … Xu X. (Carcinogenesis 2009) 3 23
  4. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 3 4
  5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 49

Products for RIF1 Gene

Sources for RIF1 Gene

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