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This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000723 [telomere maintenance] GO:0000781 [chromosome, telomeric region] GO:0000783 [nuclear telomere cap complex] GO:0000784 [nuclear chromosome, telomeric region] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0010370 [perinucleolar chromocenter] GO:0010833 [telomere maintenance via telomere lengthening] GO:0010836 [negative regulation of protein ADP-ribosylation] GO:0016363 [nuclear matrix] GO:0032202 [telomere assembly] GO:0032205 [negative regulation of telomere maintenance] GO:0032206 [positive regulation of telomere maintenance] GO:0032211 [negative regulation of telomere maintenance via telomerase] GO:0034502 [protein localization to chromosome] GO:0042162 [telomeric DNA binding] GO:0050680 [negative regulation of epithelial cell proliferation] GO:0070187 [telosome] GO:0070198 [protein localization to chromosome, telomeric region]
Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000723 [telomere maintenance] GO:0000781 [chromosome, telomeric region] GO:0000783 [nuclear telomere cap complex] GO:0000784 [nuclear chromosome, telomeric region] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0010370 [perinucleolar chromocenter] GO:0010833 [telomere maintenance via telomere lengthening] GO:0010836 [negative regulation of protein ADP-ribosylation] GO:0016363 [nuclear matrix] GO:0032202 [telomere assembly] GO:0032206 [positive regulation of telomere maintenance] GO:0032211 [negative regulation of telomere maintenance via telomerase] GO:0034502 [protein localization to chromosome] GO:0042162 [telomeric DNA binding] GO:0050680 [negative regulation of epithelial cell proliferation] GO:0070187 [telosome] GO:0070198 [protein localization to chromosome, telomeric region]
