ENSG00000080345


Homo sapiens

Features
Gene ID: ENSG00000080345
  
Biological name :RIF1
  
Synonyms : Q5UIP0 / replication timing regulatory factor 1 / RIF1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q23.3
Gene start: 151409883
Gene end: 151508013
  
Corresponding Affymetrix probe sets: 214700_x_at (Human Genome U133 Plus 2.0 Array)   214872_at (Human Genome U133 Plus 2.0 Array)   226503_at (Human Genome U133 Plus 2.0 Array)   226821_at (Human Genome U133 Plus 2.0 Array)   233780_at (Human Genome U133 Plus 2.0 Array)   233781_s_at (Human Genome U133 Plus 2.0 Array)   236620_at (Human Genome U133 Plus 2.0 Array)   240098_at (Human Genome U133 Plus 2.0 Array)   241820_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000416123
Ensembl peptide - ENSP00000414615
Ensembl peptide - ENSP00000415691
Ensembl peptide - ENSP00000243326
Ensembl peptide - ENSP00000390181
Ensembl peptide - ENSP00000390486
Ensembl peptide - ENSP00000404882
NCBI entrez gene - 55183     See in Manteia.
OMIM - 608952
RefSeq - XM_017004425
RefSeq - NM_001177665
RefSeq - NM_018151
RefSeq - XM_005246665
RefSeq - XM_011511395
RefSeq - XM_017004422
RefSeq - XM_017004423
RefSeq - XM_017004424
RefSeq - NM_001177663
RefSeq - NM_001177664
RefSeq Peptide - NP_060621
RefSeq Peptide - NP_001171134
RefSeq Peptide - NP_001171135
RefSeq Peptide - NP_001171136
swissprot - Q5UIP0
swissprot - H7C2B5
swissprot - H7BZN3
Ensembl - ENSG00000080345
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rif1ENSDARG00000062650Danio rerio
 RIF1ENSGALG00000012484Gallus gallus
 Rif1ENSMUSG00000036202Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR011989  Armadillo-like helical
 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 ISS
 biological_processGO:0000723 telomere maintenance ISS
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining TAS
 biological_processGO:0006348 chromatin silencing at telomere ISS
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0019827 stem cell population maintenance IEA
 biological_processGO:0043247 telomere maintenance in response to DNA damage IDA
 biological_processGO:0045830 positive regulation of isotype switching ISS
 biological_processGO:0051574 positive regulation of histone H3-K9 methylation ISS
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEA
 biological_processGO:2000042 negative regulation of double-strand break repair via homologous recombination IDA
 biological_processGO:2001034 positive regulation of double-strand break repair via nonhomologous end joining IDA
 cellular_componentGO:0000781 chromosome, telomeric region IEA
 cellular_componentGO:0000790 nuclear chromatin ISS
 cellular_componentGO:0000793 condensed chromosome IDA
 cellular_componentGO:0001939 female pronucleus IEA
 cellular_componentGO:0001940 male pronucleus IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 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 IDA
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0035861 site of double-strand break IDA
 cellular_componentGO:0051233 spindle midzone IDA
 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
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000112130 RNF8 / O76064 / ring finger protein 8  / reaction / complex
 ENSG00000128731 HERC2 / O95714 / HECT and RLD domain containing E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000104320 NBN / nibrin / O60934  / complex / reaction
 ENSG00000105229 PIAS4 / Q8N2W9 / protein inhibitor of activated STAT 4  / complex / reaction
 ENSG00000067369 Q12888 / TP53BP1 / tumor protein p53 binding protein 1  / complex / reaction
 ENSG00000109685 NSD2 / O96028 / nuclear receptor binding SET domain protein 2  / complex / reaction
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / complex / reaction
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / complex / reaction
 ENSG00000163961 Q8IYW5 / RNF168 / ring finger protein 168  / complex / reaction
 ENSG00000172977 KAT5 / Q92993 / lysine acetyltransferase 5  / complex / reaction
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / complex / reaction
 ENSG00000168148 Q16695 / HIST3H3 / histone cluster 3 H3  / complex / reaction
 ENSG00000188486 H2AFX / P16104 / H2A histone family member X  / complex / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000137337 MDC1 / Q14676 / mediator of DNA damage checkpoint 1  / complex / reaction
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / complex / reaction
 ENSG00000157212 PAXIP1 / Q6ZW49 / PAX interacting protein 1  / complex / reaction
 ENSG00000169139 Q15819 / UBE2V2 / ubiquitin conjugating enzyme E2 V2  / complex / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex / reaction
 ENSG00000196419 XRCC6 / P12956 / X-ray repair cross complementing 6  / reaction
 ENSG00000152457 Q96SD1 / DCLRE1C / DNA cross-link repair 1C  / complex / reaction
 ENSG00000079246 XRCC5 / P13010 / X-ray repair cross complementing 5  / reaction






 

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