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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
5
Cytoband
q35.3
Chromosome location (bp)
179835133 - 179862173
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex 1. Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair 2....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables chromatin binding activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; regulation of double-strand break repair; and response to ionizing radiation. Located in nucleoplasm. Colocalizes with Mre11 complex. [provided by Alliance of Genome Resources, Apr 2022]...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.
Q6NTE8 [Direct mapping] MRN complex-interacting protein
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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:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0010212[response to ionizing radiation] GO:0030870[Mre11 complex] GO:0045860[positive regulation of protein kinase activity] GO:0071168[protein localization to chromatin] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2001032[regulation of double-strand break repair via nonhomologous end joining]
Q6NTE8 [Direct mapping] MRN complex-interacting protein
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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:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0010212[response to ionizing radiation] GO:0030870[Mre11 complex] GO:0045860[positive regulation of protein kinase activity] GO:0071168[protein localization to chromatin] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2001032[regulation of double-strand break repair via nonhomologous end joining]
The Human Protein Atlas project is funded
