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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
General
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 2472 aa
MW = 274 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: Ser phosphorylation site {S7}
Ser phosphorylation site {S401}
Ser phosphorylation site {S402}
Tyr phosphorylation site {Y404}
Thr phosphorylation site {T409}
Ser phosphorylation site {S782}
Ser phosphorylation site {S979}
Thr phosphorylation site {T1047}
Ser phosphorylation site {S1148}
Ser phosphorylation site {S1157}
Ser phosphorylation site {S1162}
Ser phosphorylation site {S1236}
Ser phosphorylation site {S1238}
Ser phosphorylation site {S1422}
Ser phosphorylation site {S1454}
Ser phosphorylation site {S1513}
Thr phosphorylation site {T1518}
Ser phosphorylation site {S1542}
Ser phosphorylation site {S1552}
Ser phosphorylation site {S1554}
Ser phosphorylation site {S1576}
Ser phosphorylation site {S1579}
Ser phosphorylation site {S1616}
Ser phosphorylation site {S1688}
Ser phosphorylation site {S1693}
Thr phosphorylation site {T1806}
Ser phosphorylation site {S1810}
Ser phosphorylation site {S1851}
Ser phosphorylation site {S1873}
chromosome interaction {1924-2472}
MOTIF: Ser phosphorylation site {S1971}
Ser phosphorylation site {S2144}
Ser phosphorylation site {S2161}
Ser phosphorylation site {S2163}
Ser phosphorylation site {S2172}
Ser phosphorylation site {S2176}
Ser phosphorylation site {S2189}
Ser phosphorylation site {S2196}
Ser phosphorylation site {S2205}
Ser phosphorylation site {S2243}
Ser phosphorylation site {S2260}
Ser phosphorylation site {S2265}
Ser phosphorylation site {S2339}
Ser phosphorylation site {S2391}
Ser phosphorylation site {S2393}
Ser phosphorylation site {S2465}
Ser phosphorylation site {S2471}
Database Correlations
OMIM 608952
UniProt Q5UIP0
Pfam PF12231
Entrez Gene 55183
Kegg hsa:55183
References
UniProt :accession Q5UIP0