Telomere-associated protein RIF1

Protein
RIF1
Identifiers
AliasesRIF1, replication timing regulatory factor 1
External IDsOMIM: 608952; MGI: 1098622; HomoloGene: 41231; GeneCards: RIF1; OMA:RIF1 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for RIF1
Genomic location for RIF1
Band2q23.3Start151,409,883 bp[1]
End151,508,013 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for RIF1
Genomic location for RIF1
Band2 C1.1|2 29.98 cMStart51,962,844 bp[2]
End52,012,395 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 2: 51.96 – 52.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000080345 – Ensembl, May 2017
  2. ^ a b c 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.
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