| Gene |
RIF1
|
| Protein Name |
RIF1_HUMAN |
| Organism |
Homo sapiens (Human) |
| Alternative name(s) |
Telomere-associated protein RIF1 (Rap1-interacting factor 1 homolog) |
| Protein Family |
RIF1 family |
| NCBI Gene ID |
55183
|
| UniProt ID |
Q5UIP0
|
| Enzyme Class |
- |
| Molecular Weight |
274466 |
| Protein Length |
2472 |
| Protein Domain |
InterPro |
Pfam
|
| 3D Structure |
PDBe |
PDBj |
RCSB PDB |
DrugPort
ModBase |
SwissModel
|
| Gene Expression |
Gene Expression Atlas
|
| Function and Disease |
OMIM |
| Protein-protein Interaction Database |
STRING |
IntAct |
MINT
|
| Kinase Database |
Phospho.ELM
|
PhosphoSite
| NetworKIN
|
| Catalytic Activity (UniProt annotation) |
- |
| Localization |
Nucleus |
| Function (UniProt annotation) |
Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs (PubMed:15342490, PubMed:28241136). In response to DNA damage, interacts with ATM-phosphorylated TP53BP1 (PubMed:23333306, PubMed:28241136). Interaction with TP53BP1 leads to dissociate the interaction between NUDT16L1/TIRR and TP53BP1, thereby unmasking the tandem Tudor-like domain of TP53BP1 and allowing recruitment to DNA DSBs (PubMed:28241136). Once recruited to DSBs, RIF1 and TP53BP1 act by promoting NHEJ-mediated repair of DSBs (PubMed:23333306). In the same time, RIF1 and TP53BP1 specifically counteract the function of BRCA1 by blocking DSBs resection via homologous recombination (HR) during G1 phase (PubMed:23333306). Also required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (By similarity). Promotes NHEJ of dysfunctional telomeres (By similarity). |
| Gene Ontology |
GO:0000122; GO:0000723; GO:0000781; GO:0000790; GO:0000793; GO:0001939; GO:0001940; GO:0005634; GO:0005654; GO:0005737; GO:0005886; GO:0006303; GO:0006348; GO:0006974; GO:0007049; GO:0016604; GO:0019827; GO:0031965; GO:0035861; GO:0043247; GO:0045830; GO:0051233; GO:0051574; GO:1990830; GO:2000042; GO:2001034 |
