Product Details

Uniprot No.

Target Names

DKC1

Alternative Names

CBF5 antibody; CBF5 homolog antibody; Cbf5p homolog antibody; DKC 1 antibody; DKC antibody; Dkc1 antibody; DKC1_HUMAN antibody; DKCX antibody; Dyskeratosis congenita 1 antibody; Dyskeratosis congenita 1 dyskerin antibody; Dyskerin antibody; H/ACA ribonucleoprotein complex subunit 4 antibody; NAP 57 antibody; NAP57 antibody; NOLA 4 antibody; NOLA4 antibody; Nopp140 associated protein of 57 kDa antibody; Nopp140-associated protein of 57 kDa antibody; Nucleolar protein family A member 4 antibody; Nucleolar protein NAP57 antibody; snoRNP protein DKC1 antibody; XAP 101 antibody; XAP101 antibody

Species Reactivity

Human

Immunogen

A synthesized peptide from human DKC1 protein

Immunogen Species

Homo sapiens (Human)

Conjugate

Non-conjugated

Clonality

Monoclonal

Isotype

Rabbit IgG

Clone No.

22B3

Purification Method

Affinity-chromatography

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Rabbit IgG in 10mM phosphate buffered saline , pH 7.4, 150mM sodium chloride, 0.05% BSA, 0.02% sodium azide and 50% glycerol.

Form

Liquid

Tested Applications

ELISA, WB, IHC, FC

Recommended Dilution

Application	Recommended Dilution
WB	1:500-1:5000
IHC	1:50-1:200
FC	1:50-1:200

Protocols

ELISA Protocol
Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
Flow Cytometry (FC) Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Description

Dyskerin, encoded by the DKC1 gene, serves as a critical component of the H/ACA ribonucleoprotein complex, where it functions as a pseudouridine synthase essential for ribosomal RNA modification and telomerase RNA stabilization. Mutations in DKC1 cause dyskeratosis congenita, a rare inherited disorder characterized by bone marrow failure and increased cancer susceptibility, making this protein a significant target for researchers investigating telomere biology, ribosome biogenesis, and cancer pathogenesis.

This recombinant monoclonal antibody, generated from clone 22B3, offers the reproducibility and consistency that demanding experimental workflows require. Because the antibody sequence is defined and produced recombinantly in rabbit, researchers benefit from lot-to-lot uniformity that traditional hybridoma-derived antibodies cannot guarantee. Affinity purification ensures high specificity for your target while minimizing background interference.

Validation studies demonstrate robust performance across multiple applications. Western blot analysis detects a clean band at the predicted 58 kDa molecular weight across diverse human cell lines including MCF7 breast cancer, Jurkat T lymphocyte, A549 lung carcinoma, U251 glioblastoma, and COLO205 colorectal adenocarcinoma cells, confirming reliable detection in varied cellular contexts. Immunohistochemistry staining has been optimized in paraffin-embedded human brain tissue and cervical cancer specimens, revealing clear nuclear localization consistent with dyskerin's known subcellular distribution. Flow cytometry validation in A549 cells demonstrates effective intracellular detection with appropriate fixation and permeabilization protocols.

Whether you are exploring telomerase regulation, investigating nucleolar function, or characterizing DKC1 expression patterns in disease models, this antibody provides a dependable tool for epigenetics and nuclear signaling research applications.

Usage

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

Target Background

Function

Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.; Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.

Gene References into Functions

The expression of DKC1 was upregulated in ccRCC. PMID: 29901172
Dyskerin isoform 3 boosts energy metabolism. PMID: 29132127
dyskerin suppression caused p53-dependent G1 cell-cycle arrest in p53 wild-type cells, and a p53-independent pathway impaired proliferation in cells with p53 dysfunction. PMID: 27197171
observed dyskerin expression, telomerase RNA accumulation, and pseudouridylation present in all DKC1 mutation carriers at levels comparable to healthy wild-type controls PMID: 27570172
A mutation in the DC gene 1 (DKC1) at Xq28 results in dysfunction of dyskerin, a protein that is involved in telomere maintenance and ribosomal biogenesis. PMID: 27018886
Loss of dyskerin binding leads to telomerase RNA component degradation. PMID: 26950371
Expression of GSE4 increased telomerase activity and reduced DNA damage, oxidative stress and cell senescence in dyskerin-mutated cells. PMID: 26571381
influence of dyskerin expression on tumor clinical outcome is linked to its role on the maintenance of high levels of TERC PMID: 26301749
a significant increase in DKC1, RAD50, MRE11 and RPA1 expression in MM cases with high bone marrow infiltration (pPMID: 26366868
Performed a comprehensive study of human dyskerin through structural, phylogenetic and bioinformatic analysis. PMID: 25540932
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. PMID: 25499969
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 PMID: 25367684
DKC1 mutations were found in Indian patients with aplastic anemia. PMID: 25906515
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. PMID: 24303026
DKC1 variant represents the third telomere-related gene identified as a genetic cause of FIP. PMID: 24504062
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. PMID: 24914498
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. PMID: 24690175
3 novel alternative splice isoforms of DKC1 derived from human X-linked dyskeratosis congenita 1 have been identified. PMID: 24219293
that females with heterozygous DKC1 mutations may be at increased risk for developing penetrant telomere phenotypes that, at times, may be associated with clinical morbidity. PMID: 23946118
Results show that dyskerin stability is regulated by SUMOylation and that mutations altering dyskerin SUMOylation can lead to defects in telomere maintenance that are characteristics of dyskeratosis congenita. PMID: 23660516
Direct DKC1 gene mutations were not a frequent event in human lung, breast or colon tumourigenesis. PMID: 23348390
We describe an African American family with Hoyeraal-Hreidarrson syndrome (HHS) in which 2 TERT mutations (causing P530L and A880T amino acid changes) and two in the DKC1 variants (G486R and A487A) were segregating. PMID: 23335200
Dyskerin overexpression in human hepatocellular carcinoma is associated with advanced clinical stage and poor patient prognosis. PMID: 22912812
SMUG1 is a DKC1 interaction partner that contributes to rRNA quality control, partly by regulating 5-hydroxymethyluridine levels. PMID: 23246433
Two novel mutations (p.His68Arg and p.Lys390del) have been found in DKC1 genes of Spanish patients with dyskeratosis congenita. PMID: 22664374
purified telomerase holoenzyme complexes from different X-linked dyskeratosis congenita (X-DC) cells have normal catalytic activity; data confirm that dyskerin promotes telomerase RNA (TER) stability in vivo, endorsing the development of TER supplementation strategies for the treatment of X-DC PMID: 22058290
suggests that DKC1 nucleolar and cytoplasmic functions might cumulatively account for the plethora of manifestations displayed by this syndrome PMID: 21820037
rRNA pseudouridylation defects resulted from a deficient pseudouridylate synthetase affect ribosomal ligand binding and translational fidelity from yeast to human cells. PMID: 22099312
A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in two dyskeratosis congenita patients. PMID: 21736606
The role of dyskerin in tumorigenesis does not correlate with its function within the telomerase complex. Dyskerin is often overexpressed in oral squamous cell carcinoma, and correlates with active cell proliferation. PMID: 21674675
a recurrent mutation c.1058 C>T (p. A353V) in the DKC1 responsible for dyskeratosis congenita in a Chinese family was identified. PMID: 21601430
intact dyskerin levels, in the absence of coding mutations, are critical for telomerase RNA stability and for in vivo telomere maintenance. PMID: 21415081
Data reinforce the notion that loss and gain of dyskerin function may play important roles in tumorigenesis. PMID: 21480387
Bisulfite sequencing revealed that only FancB and DKC1 showed no methylation in normal patients, yet the presence of promoter hypermethylation in HNSCC patients. PMID: 20332657
Effects of dyskeratosis congenita mutations in dyskerin on assembly of H/ACA pre-RNPs PMID: 20008900
Impairment of dyskerin function causes p53 inactivation due to a defect in p53 mRNA translation. Reduction of dyskerin causes a decrease of p53 mRNA translation and protein levels in human breast cancer cells and mammary epithelial progenitor cells. PMID: 20501855
Analyzed was genomic DNA isolated from peripheral lymphocytes of 17 individuals affected with dyskeratosis congenita. Two novel mutations were discovered. PMID: 19879169
Impaired interaction between NAP57 and SHQ1 is a molecular basis for dyskeratosis congenita. PMID: 19734544
TEP1, hTR, hsp90, p23, and dyskerin remained at high and unchanged levels throughout up- or down regulation of telomerase activity. PMID: 12135483
the human TruB family includes at least three members: DKC1 (previously identified), TRUB1 and TRUB2. PMID: 12736709
Review. DKC1 encodes dyskerin, a protein component of small nucleolar ribonucleoprotein particles. Dyskerin & TERC closely associate with each other in the telomerase complex. DKC1 deficiency causes X-linked dyskeratosis congenita. PMID: 15613268
specific defect in IRES (internal ribosome entry site)-dependent translation in X-linked dyskeratosis congenita cells; defect results in impaired translation of mRNAs containing IRES elements, including those encoding p27Kip1), Bcl-xL and XIAP PMID: 16690864
protein composition of catalytically active telomerase; mass spectrometric sequencing of the components & molecular size determination indicate an enzyme composition of two molecules each of telomerase reverse transcriptase, telomerase RNA & dyskerin PMID: 17395830
THe first case of X-linked DC in Malaysia and a novel mutation in the DKC1 gene are described. PMID: 17417794
mutations in the telomerase complex and their connections with dyskeratosis congenita and bone marrow failures [review] PMID: 17625368
These data indicate that DKC1 is a direct and conserved transcriptional target of c-MYC, and suggest a biologic basis for DKC1 overexpression in neoplasia. PMID: 17822678
These data demonstrate that this domain of dyskerin plays an important role in telomerase maintenance following cell insults such as cisplatin treatment, and in telomerase-defective cells in patients with X-linked dyskeratosis congenita. PMID: 18057229
Significantly higher DKC1 mRNA is associated with colorectal cancer. PMID: 18607840
An intronic splice site mutation in DKC1 was found in an infant with Hoyeraal-Hreidarsson syndrome. PMID: 18627054
a 2 bp inversion in exon 3: NM_001363:c.166_167invCT (Leu56Ser) mutation in DKC1 in dyskeratosis congenita identified in a Russian family PMID: 18802941

Hide All

Involvement in disease

Dyskeratosis congenita, X-linked (DKCX); Hoyeraal-Hreidarsson syndrome (HHS)

Subcellular Location

[Isoform 1]: Nucleus, nucleolus. Nucleus, Cajal body.; [Isoform 3]: Cytoplasm.

Protein Families

Pseudouridine synthase TruB family

Tissue Specificity

Ubiquitously expressed.

Database Links

HGNC: 2890

OMIM: 300126

KEGG: hsa:1736

STRING: 9606.ENSP00000358563

UniGene: Hs.4747

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Code	CSB-RA196900A0HU
Size	US$210
	Order now
Image	Western Blot Positive WB detected in: MCF7 whole cell lysate(30µg), Jurkat whole cell lysate(30µg), A549 whole cell lysate(30µg), U251 whole cell lysate(30µg), COLO205 whole cell lysate(30µg), All lanes: Dyskerin antibody at 1:1000 Secondary Goat polyclonal to rabbit IgG at 1/40000 dilution Predicted band size: 58 kDa Observed band size: 58 kDa Exposure time: 30S IHC image of CSB-RA196900A0HU diluted at 1:100 and staining in paraffin-embedded human brain tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a Goat anti-rabbit polymer IgG labeled by HRP and visualized using 0.05% DAB. IHC image of CSB-RA196900A0HU diluted at 1:100 and staining in paraffin-embedded human cervical cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a Goat anti-rabbit polymer IgG labeled by HRP and visualized using 0.05% DAB. Overlay Peak curve showing A549 cells stained with CSB-RA196900A0HU (red line) at 1:100. The cells were fixed in 4% formaldehyde and permeated by 0.2% TritonX-100 for 10min. Then 10% normal goat serum to block non-specific protein-protein interactions followed by the antibody (1ug/110⁶cells) for 45min at 4℃. The secondary antibody used was FITC-conjugated goat anti-rabbit IgG (H+L) at 1/200 dilution for 35min at 4℃.Control antibody (green line) was Rabbit IgG (1ug/110⁶cells) used under the same conditions. Acquisition of >10, 000 events was performed.
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DKC1 Recombinant Monoclonal Antibody

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Target Background