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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
q23.3
Chromosome location (bp)
151409883 - 151508013
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs 1,2. In response to DNA damage, interacts with ATM-phosphorylated TP53BP1 3,4. Interaction with TP53BP1 leads to dissociate the interaction between NUDT16L1/TIRR and TP53BP1, thereby unmasking the tandem Tudor-like domain of TP53BP1 and allowing recruitment to DNA DSBs 5. Once recruited to DSBs, RIF1 and TP53BP1 act by promoting NHEJ-mediated repair of DSBs 6. In the same time, RIF1 and TP53BP1 specifically counteract the function of BRCA1 by blocking DSBs resection via homologous recombination (HR) during G1 phase 7. Also required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (By similarity). Promotes NHEJ of dysfunctional telomeres (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, DNA damage, DNA repair
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q5UIP0 [Direct mapping] Telomere-associated protein RIF1
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MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000793[condensed chromosome] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005819[spindle] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0016604[nuclear body] GO:0031509[subtelomeric heterochromatin formation] GO:0031965[nuclear membrane] GO:0035861[site of double-strand break] GO:0043247[telomere maintenance in response to DNA damage] GO:0045814[negative regulation of gene expression, epigenetic] GO:0045830[positive regulation of isotype switching] GO:0051052[regulation of DNA metabolic process] GO:0051233[spindle midzone] GO:0051574[positive regulation of histone H3-K9 methylation] GO:0140445[chromosome, telomeric repeat region] GO:2000042[negative regulation of double-strand break repair via homologous recombination] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
Q5UIP0 [Direct mapping] Telomere-associated protein RIF1
Show all
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000793[condensed chromosome] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005819[spindle] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0016604[nuclear body] GO:0031509[subtelomeric heterochromatin formation] GO:0031965[nuclear membrane] GO:0035861[site of double-strand break] GO:0043247[telomere maintenance in response to DNA damage] GO:0045814[negative regulation of gene expression, epigenetic] GO:0045830[positive regulation of isotype switching] GO:0051052[regulation of DNA metabolic process] GO:0051233[spindle midzone] GO:0051574[positive regulation of histone H3-K9 methylation] GO:0140445[chromosome, telomeric repeat region] GO:2000042[negative regulation of double-strand break repair via homologous recombination] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
Q5UIP0 [Direct mapping] Telomere-associated protein RIF1
Show all
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000793[condensed chromosome] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005819[spindle] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0016604[nuclear body] GO:0031509[subtelomeric heterochromatin formation] GO:0031965[nuclear membrane] GO:0035861[site of double-strand break] GO:0043247[telomere maintenance in response to DNA damage] GO:0045814[negative regulation of gene expression, epigenetic] GO:0045830[positive regulation of isotype switching] GO:0051052[regulation of DNA metabolic process] GO:0051233[spindle midzone] GO:0051574[positive regulation of histone H3-K9 methylation] GO:0140445[chromosome, telomeric repeat region] GO:2000042[negative regulation of double-strand break repair via homologous recombination] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
Q5UIP0 [Direct mapping] Telomere-associated protein RIF1
Show all
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000793[condensed chromosome] GO:0001939[female pronucleus] GO:0001940[male pronucleus] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005819[spindle] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0016604[nuclear body] GO:0031509[subtelomeric heterochromatin formation] GO:0031965[nuclear membrane] GO:0035019[somatic stem cell population maintenance] GO:0035861[site of double-strand break] GO:0043247[telomere maintenance in response to DNA damage] GO:0045814[negative regulation of gene expression, epigenetic] GO:0045830[positive regulation of isotype switching] GO:0051052[regulation of DNA metabolic process] GO:0051233[spindle midzone] GO:0051574[positive regulation of histone H3-K9 methylation] GO:0140445[chromosome, telomeric repeat region] GO:1990830[cellular response to leukemia inhibitory factor] GO:2000042[negative regulation of double-strand break repair via homologous recombination] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
Q5UIP0 [Direct mapping] Telomere-associated protein RIF1
Show all
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000793[condensed chromosome] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005819[spindle] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0016604[nuclear body] GO:0031509[subtelomeric heterochromatin formation] GO:0031965[nuclear membrane] GO:0035861[site of double-strand break] GO:0043247[telomere maintenance in response to DNA damage] GO:0045814[negative regulation of gene expression, epigenetic] GO:0045830[positive regulation of isotype switching] GO:0051052[regulation of DNA metabolic process] GO:0051233[spindle midzone] GO:0051574[positive regulation of histone H3-K9 methylation] GO:0140445[chromosome, telomeric repeat region] GO:2000042[negative regulation of double-strand break repair via homologous recombination] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
The Human Protein Atlas project is funded
