ENSMUSG00000036202


Mus musculus

Features
Gene ID: ENSMUSG00000036202
  
Biological name :Rif1
  
Synonyms : Q6PR54 / Rif1 / Telomere-associated protein RIF1
  
Possible biological names infered from orthology : Q5UIP0 / replication timing regulatory factor 1
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: C1.1
Gene start: 52072832
Gene end: 52122383
  
Corresponding Affymetrix probe sets: 10472058 (MoGene1.0st)   1429490_at (Mouse Genome 430 2.0 Array)   1429491_s_at (Mouse Genome 430 2.0 Array)   1437179_at (Mouse Genome 430 2.0 Array)   1442939_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000154009
Ensembl peptide - ENSMUSP00000154086
Ensembl peptide - ENSMUSP00000154538
Ensembl peptide - ENSMUSP00000153998
Ensembl peptide - ENSMUSP00000108313
NCBI entrez gene - 51869     See in Manteia.
MGI - MGI:1098622
RefSeq - XM_011239136
RefSeq - NM_175238
RefSeq - XM_006498177
RefSeq - XM_006498179
RefSeq - XM_011239135
RefSeq Peptide - NP_780447
RefSeq Peptide - NP_001342343
swissprot - Q6PR54
Ensembl - ENSMUSG00000036202
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rif1ENSDARG00000062650Danio rerio
 RIF1ENSGALG00000012484Gallus gallus
 RIF1ENSG00000080345Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR016024  Armadillo-type fold
 IPR022031  Telomere-associated protein Rif1, N-terminal
 IPR028566  Telomere-associated protein Rif1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0000723 telomere maintenance IMP
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006348 chromatin silencing at telomere IMP
 biological_processGO:0006974 cellular response to DNA damage stimulus ISO
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0019827 stem cell population maintenance IMP
 biological_processGO:0043247 telomere maintenance in response to DNA damage IEA
 biological_processGO:0045830 positive regulation of isotype switching IMP
 biological_processGO:0051574 positive regulation of histone H3-K9 methylation IMP
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEP
 biological_processGO:2000042 negative regulation of double-strand break repair via homologous recombination IEA
 biological_processGO:2001034 positive regulation of double-strand break repair via nonhomologous end joining IMP
 cellular_componentGO:0000781 chromosome, telomeric region IDA
 cellular_componentGO:0000790 nuclear chromatin IMP
 cellular_componentGO:0000793 condensed chromosome IEA
 cellular_componentGO:0001939 female pronucleus IDA
 cellular_componentGO:0001940 male pronucleus IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016604 nuclear body IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0035861 site of double-strand break IEA
 cellular_componentGO:0051233 spindle midzone IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Nonhomologous End-Joining (NHEJ)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

Allelic Composition: Rif1Gt(A045A01)Wrst/Rif1Gt(A045A01)Wrst
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rif1Gt(A045A01)Wrst/Rif1Gt(A045A01)Wrst
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0001805 decreased IgG "less than normal immunoglobulin class G level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001807 decreased IgA "less than normal immunoglobulin class A level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Rif1Gt(A045A01)Wrst/Rif1Gt(A045A01)Wrst
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Akr1a1tm1Maka/Akr1a1+
Genetic Background: B6.Cg-Akr1a1tm1Maka

 MP:0002412 increased susceptibility to bacterial infection "greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004046 abnormal mitosis "anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Rif1Gt(A045A01)Wrst/Rif1Gt(A045A01)Wrst
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0004227 increased cellular sensitivity to ionizing radiation "increased incidence of cell death following exposure to high levels of ionizing radiation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Rif1Gt(XT0278)Wtsi/Rif1Gt(XT0278)Wtsi,Trp53bp1tm1Jc/Trp53bp1tm1Jc
Genetic Background: involves: 129P2/OlaHsd * CD-1 * MF1

 MP:0004816 abnormal class switch recombination "anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008058 abnormal DNA repair "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]
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Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008495 decreased IgG1 level "less than normal immunoglobulin class G1 level" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
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Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008497 decreased IgG2b level "less than normal immunoglobulin class G2b level" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008498 decreased IgG3 level "less than normal immunoglobulin class G3 level" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0010948 abnormal double-strand DNA break repair "any annomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix" [GO:0006302]
Show

Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Rif1Gt(A045A01)Wrst/Rif1Gt(A045A01)Wrst
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Rif1Gt(A045A01)Wrst/Rif1Gt(A045A01)Wrst
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Mapk8tm1.1Jcbr/Mapk8tm1.1Jcbr
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Rif1Gt(XT0278)Wtsi/Rif1Gt(XT0278)Wtsi
Genetic Background: involves: 129P2/OlaHsd * CD-1 * MF1

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Rif1Gt(A045A01)Wrst/Rif1Gt(A045A01)Wrst
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Rif1Gt(XT0278)Wtsi/Rif1Gt(XT0278)Wtsi
Genetic Background: involves: 129P2/OlaHsd * CD-1 * MF1

 MP:0012167 abnormal epigenetic regulation of gene expression "any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence" [GO:0040029]
Show

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Y
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002221 Paxip1 / Q6NZQ4 / PAX-interacting protein 1 / Q6ZW49*  / complex / reaction
 ENSMUSG00000004934 Pias4 / Q9JM05 / protein inhibitor of activated STAT 4 / Q8N2W9*  / reaction / complex
 ENSMUSG00000020380 Rad50 / RAD50 double strand break repair protein / Q92878* / AC116366.3*  / reaction / complex
 ENSMUSG00000014074 Q80XJ2 / Rnf168 / E3 ubiquitin-protein ligase RNF168 / Q8IYW5* / ring finger protein 168*  / reaction / complex
 ENSMUSG00000090083 Rnf8 / Q8VC56 / E3 ubiquitin-protein ligase RNF8 / O76064* / ring finger protein 8*  / reaction / complex
 ENSMUSG00000028224 Nbn / Q9R207 / Nibrin / O60934*  / reaction / complex
 ENSMUSG00000031928 Mre11a / Q61216 / Double-strand break repair protein MRE11 / MRE11* / P49959* / MRE11 homolog, double strand break repair nuclease*  / reaction / complex
 ENSMUSG00000026648 Q8K4J0 / Dclre1c / Protein artemis / Q96SD1* / DNA cross-link repair 1C*  / reaction / complex
 ENSMUSG00000049932 H2afx / P27661 / Histone H2AX / P16104* / H2A histone family member X*  / reaction / complex
 ENSMUSG00000057406 Nsd2 / Q8BVE8 / Histone-lysine N-methyltransferase NSD2 / O96028* / nuclear receptor binding SET domain protein 2*  / reaction / complex
 ENSMUSG00000030451 Herc2 / Q4U2R1 / E3 ubiquitin-protein ligase HERC2 / O95714* / HECT and RLD domain containing E3 ubiquitin protein ligase 2*  / reaction / complex
 ENSMUSG00000061607 Mdc1 / Q14676* / mediator of DNA damage checkpoint 1*  / reaction / complex
 ENSMUSG00000022674 Q9D2M8 / Ube2v2 / ubiquitin-conjugating enzyme E2 variant 2 / Q15819* / ubiquitin conjugating enzyme E2 V2*  / reaction / complex
 ENSMUSG00000026021 Sumo1 / P63166 / Small ubiquitin-related modifier 1 / P63165* / small ubiquitin-like modifier 1*  / reaction / complex
 ENSMUSG00000060981 P62806 / Hist1h4h / Histone H4   / reaction / complex
 ENSMUSG00000043909 P70399 / Trp53bp1 / TP53-binding protein 1 / Q12888* / TP53BP1* / tumor protein p53 binding protein 1*  / reaction / complex
 ENSMUSG00000098374 Gm28043 / RNF8* / O76064* / ring finger protein 8*  / complex / reaction
 ENSMUSG00000024926 Kat5 / Q8CHK4 / Histone acetyltransferase KAT5 / Q92993* / lysine acetyltransferase 5*  / complex / reaction
 ENSMUSG00000034218 Atm / Q62388 / Serine-protein kinase ATM / Q13315* / ATM serine/threonine kinase*  / complex / reaction






 

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