Telomere-associated protein RIF1

RIF1
Identifiers
Aliases	RIF1 , replication timing regulatory factor 1
External IDs	OMIM: 608952; MGI: 1098622; HomoloGene: 41231; GeneCards: RIF1; OMA:RIF1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q23.3 Start 151,409,883 bp [1] End 151,508,013 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 C1.1|2 29.98 cM Start 51,962,844 bp [2] End 52,012,395 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell gastrocnemius muscle muscle of thigh Achilles tendon testicle secondary oocyte Skeletal muscle tissue of rectus abdominis corpus callosum internal globus pallidus gonad Top expressed in spermatocyte zygote secondary oocyte primary oocyte primitive streak cumulus cell epiblast Gonadal ridge spermatid abdominal wall More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm telomere plasma membrane spindle male pronucleus female pronucleus nucleus cytoskeleton nucleoplasm chromosome condensed chromosome nuclear body nuclear membrane spindle midzone site of double-strand break Biological process stem cell population maintenance cell cycle double-strand break repair via nonhomologous end joining negative regulation of transcription by RNA polymerase II telomere maintenance telomere maintenance in response to DNA damage positive regulation of histone H3-K9 methylation cellular response to DNA damage stimulus positive regulation of isotype switching negative regulation of double-strand break repair via homologous recombination positive regulation of double-strand break repair via nonhomologous end joining DNA repair cellular response to leukemia inhibitory factor Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55183 51869 Ensembl ENSG00000080345 ENSMUSG00000036202 UniProt Q5UIP0 Q6PR54 RefSeq (mRNA) NM_001177663 NM_001177664 NM_001177665 NM_018151 NM_175238 NM_001355414 NM_001355415 RefSeq (protein) NP_001171134 NP_001171135 NP_001171136 NP_060621 NP_780447 NP_001342343 NP_001342344 Location (UCSC) Chr 2: 151.41 – 151.51 Mb Chr 2: 51.96 – 52.01 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Telomere-associated protein RIF1 is a protein that in humans is encoded by the RIF1 gene. ^{[5] [6] [7]}

RIF1 and RIF2 cap the chromosome ends (telomeres) in yeast. ^[8] In higher eukaryotes, Rif1 is involved in DNA damage response, organisation of chromatin architecture and the regulation of replication timing. RIF1 has been shown to bind to RNA in the nucleus. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000080345 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036202 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Silverman J, Takai H, Buonomo SB, Eisenhaber F, de Lange T (September 2004). "Human Rif1, ortholog of a yeast telomeric protein, is regulated by ATM and 53BP1 and functions in the S-phase checkpoint". Genes & Development. 18 (17): 2108–19. doi:10.1101/gad.1216004. PMC   515289 . PMID   15342490.
6. Adams IR, McLaren A (April 2004). "Identification and characterisation of mRif1: a mouse telomere-associated protein highly expressed in germ cells and embryo-derived pluripotent stem cells". Developmental Dynamics. 229 (4): 733–44. doi:10.1002/dvdy.10471. PMID   15042697. S2CID   22138565.
7. "Entrez Gene: RIF1 RAP1 interacting factor homolog (yeast)".
8. Ribeyre C, Shore D (2012). "Anticheckpoint pathways at telomeres in yeast". Nature Structural & Molecular Biology. 19 (3): 307–13. doi:10.1038/nsmb.2225. PMID   22343724. S2CID   10636976.
9. Conrad T, Albrecht AS, de Melo Costa VR, Sauer S, Meierhofer D, Ørom UA (2016-01-01). "Serial interactome capture of the human cell nucleus". Nature Communications. 7: 11212. Bibcode:2016NatCo...711212C. doi:10.1038/ncomms11212. PMC   4822031 . PMID   27040163.

Further reading

• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (April 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID   8619474.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (April 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC   139146 . PMID   9110174.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.
• Xu L, Blackburn EH (December 2004). "Human Rif1 protein binds aberrant telomeres and aligns along anaphase midzone microtubules". The Journal of Cell Biology. 167 (5): 819–30. doi:10.1083/jcb.200408181. PMC   2172464 . PMID   15583028.
• Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (October 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID   16964243. S2CID   14294292.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.