Property Summary

NCBI Gene PubMed Count 103
Grant Count 113
R01 Count 80
Funding $22,774,817.15
PubMed Score 234.37
PubTator Score 170.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.639 0.003
Multiple myeloma 1.548 0.002
malignant mesothelioma 1.200 0.000
psoriasis 1.400 0.001
group 3 medulloblastoma 2.000 0.000
astrocytoma 1.200 0.005
medulloblastoma, large-cell 1.900 0.000
non-small cell lung cancer 1.352 0.000
colon cancer 2.500 0.002
lung cancer 2.600 0.000
Breast cancer 2.800 0.028
lung adenocarcinoma 1.151 0.000
ovarian cancer 1.900 0.001
dermatomyositis 1.200 0.001

Synonym

Accession O60832 F5BSB3 O43845 Q96G67 Q9Y505
Symbols DKC
CBF5
DKCX
NAP57
NOLA4
XAP101

Gene

Gene RIF (51)

PMID Text
26950371 Loss of dyskerin binding leads to telomerase RNA component degradation.
26571381 Expression of GSE4 increased telomerase activity and reduced DNA damage, oxidative stress and cell senescence in dyskerin-mutated cells.
26366868 a significant increase in DKC1, RAD50, MRE11 and RPA1 expression in MM cases with high bone marrow infiltration (p</=0.03) and a tendency towards cases with advanced ISS stage
26301749 influence of dyskerin expression on tumor clinical outcome is linked to its role on the maintenance of high levels of TERC
25906515 DKC1 mutations were found in Indian patients with aplastic anemia.
25540932 Performed a comprehensive study of human dyskerin through structural, phylogenetic and bioinformatic analysis.
25499969 DC is genetically heterogeneous. X-linked DC is the commonest form of the disease, accounting for approximately 30% of cases, and is caused by mutations of the DKC1 gene encoding the dyskerin protein.
25367684 The non-neoplastic biliary tree seems to progressively lose dyskerin expression from the major branches to the peripheral portal bile ducts. Similarly, intrahepatic cholangiocarcinomas showed two patterns of dyskerin expression
24914498 whole-exome sequencing for the genetic diagnosis of this patient with possible Hoyeraal-Hreidarsson syndrome and successfully identified a missense mutation (c.146C>T, p.Thr49Me) in DKC1.
24690175 Using human U2OS osteosarcoma cells, the study shows that siRNA-mediated dyskerin depletion induced cellular senescence as evidenced by proliferative arrest, senescence-associated heterochromatinization and a senescence-associated molecular profile.
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AA Sequence

MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYT      1 - 70
PLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERAT     71 - 140
RLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPE    141 - 210
RRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDES    211 - 280
YLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALM    281 - 350
TTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS    351 - 420
ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPG    421 - 490
DGDSDTTKKKKKKKKAKEVELVSE                                                  491 - 514
//

Text Mined References (121)

PMID Year Title
26950371 2016 Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects.
26571381 2015 GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant Cells.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26366868 2015 Differential Expression of Non-Shelterin Genes Associated with High Telomerase Levels and Telomere Shortening in Plasma Cell Disorders.
26301749 2015 Dyskerin and TERC expression may condition survival in lung cancer patients.
25906515 2014 Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25540932 2015 Novel insights into the evolution and structural characterization of dyskerin using comprehensive bioinformatics analysis.
25499969 Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein.
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