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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.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes
Predicted locationi
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
15
Cytoband
q15.3
Chromosome location (bp)
43403061 - 43510728
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis 1,2,3,4,5,6,7,8,9. Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 10,11,12,13,14. In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites 15. Recruited to DSBs sites by recognizing and binding histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub) and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histone marks that are present at DSBs sites 16,17,18,19. Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs 20. Participates in the repair and the orientation of the broken DNA ends during CSR (By similarity). In contrast, it is not required for classic NHEJ and V(D)J recombination (By similarity). Promotes NHEJ of dysfunctional telomeres via interaction with PAXIP1 21....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, Host-virus interaction, Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Disease related genes 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:0000077[DNA damage checkpoint signaling] GO:0000775[chromosome, centromeric region] GO:0000776[kinetochore] GO:0000781[chromosome, telomeric region] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003712[transcription coregulator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006351[DNA-templated transcription] GO:0006974[cellular response to DNA damage stimulus] GO:0016604[nuclear body] GO:0035064[methylated histone binding] GO:0035861[site of double-strand break] GO:0042393[histone binding] GO:0045830[positive regulation of isotype switching] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051260[protein homooligomerization] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061649[ubiquitin modification-dependent histone binding] GO:2000042[negative regulation of double-strand break repair via homologous recombination]
MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Disease related genes 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:0000077[DNA damage checkpoint signaling] GO:0000775[chromosome, centromeric region] GO:0000776[kinetochore] GO:0000781[chromosome, telomeric region] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003712[transcription coregulator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005657[replication fork] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006351[DNA-templated transcription] GO:0006974[cellular response to DNA damage stimulus] GO:0016604[nuclear body] GO:0035064[methylated histone binding] GO:0035861[site of double-strand break] GO:0042162[telomeric DNA binding] GO:0042393[histone binding] GO:0043565[sequence-specific DNA binding] GO:0045830[positive regulation of isotype switching] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051260[protein homooligomerization] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061649[ubiquitin modification-dependent histone binding] GO:0071481[cellular response to X-ray] GO:1990391[DNA repair complex] GO:2000042[negative regulation of double-strand break repair via homologous recombination]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000077[DNA damage checkpoint signaling] GO:0000775[chromosome, centromeric region] GO:0000776[kinetochore] GO:0000781[chromosome, telomeric region] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003712[transcription coregulator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006351[DNA-templated transcription] GO:0006974[cellular response to DNA damage stimulus] GO:0016604[nuclear body] GO:0035064[methylated histone binding] GO:0035861[site of double-strand break] GO:0042393[histone binding] GO:0045830[positive regulation of isotype switching] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051260[protein homooligomerization] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061649[ubiquitin modification-dependent histone binding] GO:2000042[negative regulation of double-strand break repair via homologous recombination]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
