telomere-associated protein RIF1; rap1-interacting factor 1 homolog (RIF1)

Function

• checkpoint mediated arrest of cell cycle progression in response to DNA damage during S-phase (intra-S-phase checkpoint)
  • this checkpoint requires activation of at least 2 parallel pathways by the ATM kinase
    • one pathway involves the MRN (MRE11A-RAD50-NBS1) complex
    • the other pathway requires CHEK2. RIF1
  • RIF1 seems to act independently of both these pathways
  • seems to play no role in either G1/S or G2/M DNA damage checkpoints
• phosphorylated upon DNA damage, probably by ATM or ATR

Compartment

• nucleus
• ATM- & TP53BP1-dependent localization to uncapped or aberrant telomeres & to DNA double strand breaks
• does not associate with normal telomeres
• localizes to microtubules midzone mitotic spindle during anaphase, & to condensed chromosomes in telophase

Alternative splicing

named isoforms=2

Expression

• highly expressed in testis
• expression peaks in late G2/S phase of the cell cycle

More general terms

• nuclear protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55183
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:55183
• OMIM: https://mirror.omim.org/entry/608952
• UniProt: http://www.uniprot.org/uniprot/Q5UIP0.html