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Browse our Dyskeratosis Congenita 1, Dyskerin Proteins (DKC1)

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Dyskeratosis Congenita 1, Dyskerin Proteins (DKC1)
On are 7 Dyskeratosis Congenita 1, Dyskerin (DKC1) Proteins from 3 different suppliers available. Additionally we are shipping Dyskeratosis Congenita 1, Dyskerin Antibodies (82) and Dyskeratosis Congenita 1, Dyskerin Kits (5) and many more products for this protein. A total of 103 Dyskeratosis Congenita 1, Dyskerin products are currently listed.
AtCBF5, AtNAP57, BC068171, CBF5, DKC, DKC1, DKCX, dyskerin, fv62a07, homologue of NAP57, Nap57, NOLA4, wu:fa28f10, wu:fc87a02, wu:fi24a05, wu:fv62a07, XAP101, zgc:110395
list all proteins Gene Name GeneID UniProt
DKC1 1736 O60832
DKC1 245474 Q9ESX5
DKC1 170944 P40615

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Dyskeratosis Congenita 1, Dyskerin Proteins (DKC1) by Origin

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More Proteins for Dyskeratosis Congenita 1, Dyskerin Interaction Partners

Zebrafish Dyskeratosis Congenita 1, Dyskerin (DKC1) interaction partners

  1. Deficiency in dkc1 and nola1 (show GAR1 Proteins) in the H/ACA RNP (show RNPC3 Proteins) complex likely contributes to the hematopoietic phenotype through p53 (show TP53 Proteins) activation associated with rRNA processing defects during the initial stage of Dyskeratosis congenita pathogenesis.

Human Dyskeratosis Congenita 1, Dyskerin (DKC1) interaction partners

  1. Loss of dyskerin binding leads to telomerase RNA component degradation.

  2. Expression of GSE4 increased telomerase activity and reduced DNA damage, oxidative stress and cell senescence in dyskerin-mutated cells.

  3. influence of dyskerin expression on tumor clinical outcome is linked to its role on the maintenance of high levels of TERC

  4. a significant increase in DKC1, RAD50, MRE11 and RPA1 expression in MM cases with high bone marrow infiltration (pISS stage

  5. Performed a comprehensive study of human dyskerin through structural, phylogenetic and bioinformatic analysis.

  6. 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.

  7. 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

  8. DKC1 mutations were found in Indian patients with aplastic anemia.

  9. dyskerin is a highly dynamic protein throughout the cell cycle and increases the repertoire of fundamental cellular processes that are disrupted by absence of its normal function.

  10. DKC1 variant represents the third telomere-related gene identified as a genetic cause of FIP (show USF2 Proteins).

Mouse (Murine) Dyskeratosis Congenita 1, Dyskerin (DKC1) interaction partners

  1. Mouse embryonic fibroblasts cells with no pseudouridylation activity in H/ACA snoRNPs due to lack of Dkc1, can produce mature ribosomes, however, the ribosomes are very unstable and cell growth and division is very slow.

  2. mTR (show MTR Proteins) stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.

  3. A mouse small nucleolar snoRNA microarray was used to monitor changes in abundance of snoRNAs after ablation of dyskerin, an H/ACA snoRNA protein component, from mouse liver, which causes a decrease in ribosome production.

  4. hepatocytes can survive without dyskerin but the role of dyskerin in RNA modification is essential for cellular proliferation.

  5. Female mice carrying the deletion in the paternally derived Dkc1 show extreme skewing of X-inactivation with the wild type X-chromosome active in all cells.

  6. results establish a role of dyskerin for deregulated rRNA modification in tumor formation and disease pathogenesis in dyskeratosis congenita

  7. Data show that point mutations in dyskerin may affect both the telomerase and pseudouridylation pathways and the extent to which these functions are altered can vary for different mutations.

  8. specific defect in IRES (internal ribosome entry site)-dependent translation in Dkc1 mutant mice; defect results in impaired translation of mRNAs containing IRES elements, including those encoding p27Kip1 (show CDKN1B Proteins)), Bcl-xL (show BCL2L1 Proteins) and XIAP (show XIAP Proteins)

  9. dyskerin mutations cause slow growth independently of telomere shortening and this slow growth is the result of the induction of DNA damage. Thus, dyskerin interacts with telomerase and affects telomere maintenance independently of telomere length.

Arabidopsis thaliana Dyskeratosis Congenita 1, Dyskerin (DKC1) interaction partners

  1. [CBF5] Arabidopsis CBF5 interacts with NAF1 (show TNIP1 Proteins) in planta.

  2. T66A NAP57 behaves as a dominant-negative inhibitor of telomerase. dyskerin is a conserved component of the telomerase RNP (show RNPC3 Proteins) complex in higher eukaryotes that is required for maximal enzyme activity in vivo.

Dyskeratosis Congenita 1, Dyskerin (DKC1) Protein Profile

Protein Summary

This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene.

Alternative names and synonyms associated with Dyskeratosis Congenita 1, Dyskerin (DKC1)

  • dyskeratosis congenita 1, dyskerin (DKC1)
  • dyskeratosis congenita 1, dyskerin (dkc1)
  • dyskerin (LOC100340288)
  • dyskeratosis congenita 1, dyskerin (Dkc1)
  • putative pseudouridine synthase NAP57 (NAP57)
  • AtCBF5 protein
  • AtNAP57 protein
  • BC068171 protein
  • CBF5 protein
  • DKC protein
  • DKC1 protein
  • DKCX protein
  • dyskerin protein
  • fv62a07 protein
  • homologue of NAP57 protein
  • Nap57 protein
  • NOLA4 protein
  • wu:fa28f10 protein
  • wu:fc87a02 protein
  • wu:fi24a05 protein
  • wu:fv62a07 protein
  • XAP101 protein
  • zgc:110395 protein

Protein level used designations for DKC1

dyskerin , fc87a02 , fi24a05 , H/ACA ribonucleoprotein complex subunit 4 , dyskeratosis congenita 1, dyskerin , H/ACA ribonucleoprotein complex subunit 4-like , h/ACA ribonucleoprotein complex subunit 4-like , CBF5 homolog , cbf5p homolog , nopp140-associated protein of 57 kDa , nucleolar protein NAP57 , nucleolar protein family A member 4 , snoRNP protein DKC1 , dyskeratosis congenita 1, dyskerin homolog

465948 Pan troglodytes
613144 Danio rerio
702563 Macaca mulatta
733436 Xenopus laevis
100084174 Ornithorhynchus anatinus
100137271 Papio anubis
100145077 Xenopus (Silurana) tropicalis
100392426 Callithrix jacchus
100456709 Pongo abelii
100474513 Ailuropoda melanoleuca
100062345 Equus caballus
100340288 Oryctolagus cuniculus
100604072 Nomascus leucogenys
1736 Homo sapiens
245474 Mus musculus
170944 Rattus norvegicus
422196 Gallus gallus
492263 Canis lupus familiaris
100216430 Sus scrofa
525619 Bos taurus
100328767 Oryctolagus cuniculus
824882 Arabidopsis thaliana
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