RIF1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: RIF1
Protein names and data: RIF1_HUMAN , Telomere-associated protein RIF1 , Rap1-interacting factor 1 homolog Lenght: 2472 a.a.
Mass: 274466 Da
fasta formatted sequence
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.
Cellular location: 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.
Tissue specificity: Highly expressed in testis.

Genetic variants

Database cross-references

UniProt: Q5UIP0
Ensembl: ENST00000243326
Ensembl: ENST00000428287
Ensembl: ENST00000430328
Ensembl: ENST00000444746
Ensembl: ENST00000453091
MIM: 608952
neXtProt: NX_Q5UIP0
Antibodypedia: Q5UIP0 (may not find the protein thus also not any antibody)
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