| Gene Symbol |
RIF1
|
| Entrez Gene |
55183
|
| Alt Symbol |
-
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
replication timing regulatory factor 1
|
| Other Description |
RAP1 interacting factor homolog|rap1-interacting factor 1 homolog|telomere-associated protein RIF1
|
| Swissprots |
Q9Y4R4 Q9H9B9 A6NC27 Q5UIP0 Q6PRU2 C9JBR1 Q99772 Q9NVP5 Q5H9R3 Q8TE94 Q9H830 Q66YK6 Q5UIP2
|
| Accessions |
EAX11507 EAX11508 EAX11509 EAX11510 Q5UIP0 AK000323 AK001461 BAA91705 AK022932 BAB14313 AK024033 BAB14792 AK074349 BAB85058 AK299291 BAG61306 AK299572 BAG61511 AL080129 CAB45727 AL137363 AY584066 AAS94233 AY585745 AAT40745 AY727910 AAV51401 AY727911 AAV51402 AY727912 AAV51403 AY727913 AAV51404 BC072675 BC172393 AAI72393 BX648324 CR933663 CAI45961 U79263 AAB50209 XM_005246665 XP_005246722 XM_011511393 XP_011509695 XM_011511394 XP_011509696 XM_011511395 XP_011509697 XR_922954 XR_922955 XR_922956 XR_922957 NM_001177663 NP_001171134 NM_001177664 NP_001171135 NM_001177665 NP_001171136 NM_018151 NP_060621
|
| 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. {ECO:0000269|PubMed:15342490}.
|
| Subcellular 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. {ECO:0000269|PubMed:15583028}.
|
| Top Pathways |
Signaling pathways regulating pluripotency of stem cells
|