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Mouse Anti-DKC1 Recombinant Antibody (3E10) (CBMAB-A2231-LY)

The product is antibody recognizes DKC1. The antibody 3E10 immunoassay techniques such as: WB, ELISA.
See all DKC1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
3E10
Antibody Isotype
IgG2a, κ
Application
WB, ELISA

Basic Information

Immunogen
DKC1 (NP_001354.1, 1 a.a. ~ 514 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Dyskerin Pseudouridine Synthase 1
Introduction
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. [provided by RefSeq]
Entrez Gene ID
1736
UniProt ID
O60832
Alternative Names
CBF5; DKC; FLJ97620; NAP57; NOLA4; XAP101
Function
Isoform 1:
Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674).

This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674).

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 (PubMed:19179534, PubMed:25219674).

Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534).
Isoform 3:
Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.
Biological Process
Box H/ACA RNA 3'-end processing Source: GO_Central
Enzyme-directed rRNA pseudouridine synthesis Source: UniProtKB
mRNA pseudouridine synthesis Source: GO_Central
Positive regulation of establishment of protein localization to telomere Source: BHF-UCL
Positive regulation of protein localization to Cajal body Source: BHF-UCL
Positive regulation of telomerase activity Source: BHF-UCL
Positive regulation of telomerase RNA localization to Cajal body Source: BHF-UCL
Positive regulation of telomere maintenance via telomerase Source: Ensembl
Regulation of telomerase RNA localization to Cajal body Source: BHF-UCL
RNA processing Source: ProtInc
rRNA processing Source: ProtInc
rRNA pseudouridine synthesis Source: GO_Central
scaRNA localization to Cajal body Source: BHF-UCL
snRNA pseudouridine synthesis Source: GO_Central
Telomerase RNA stabilization Source: BHF-UCL
Telomere maintenance via telomerase Source: UniProtKB
Cellular Location
Isoform 1: Nucleolus; Cajal body. Also localized to Cajal bodies (coiled bodies).
Isoform 3: Cytoplasm
Involvement in disease
Dyskeratosis congenita, X-linked (DKCX):
The disease is caused by variants affecting the gene represented in this entry. Reduced rRNA pseudouridine levels in cells from patients (PubMed:25219674).
A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
Hoyeraal-Hreidarsson syndrome (HHS):
A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.

Kan, G., Wang, Z., Sheng, C., Chen, G., Yao, C., Mao, Y., & Chen, S. (2021). Dual inhibition of DKC1 and MEK1/2 synergistically restrains the growth of colorectal cancer cells. Advanced Science, 8(10), 2004344.

Liu, S. Y., Zhao, Z. Y., Qiao, Z., Li, S. M., & Zhang, W. N. (2021). LncRNA PCAT1 Interacts with DKC1 to Regulate Proliferation, Invasion and Apoptosis in NSCLC Cells via the VEGF/AKT/Bcl2/Caspase9 Pathway. Cell Transplantation, 30, 0963689720986071.

Elsharawy, K. A., Mohammed, O. J., Aleskandarany, M. A., Hyder, A., El-Gammal, H. L., Abou-Dobara, M. I., ... & Rakha, E. A. (2020). The nucleolar-related protein Dyskerin pseudouridine synthase 1 (DKC1) predicts poor prognosis in breast cancer. British journal of cancer, 123(10), 1543-1552.

Balogh, E., Chandler, J. C., Varga, M., Tahoun, M., Menyhárd, D. K., Schay, G., ... & Tory, K. (2020). Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences, 117(26), 15137-15147.

Guerrieri, A. N., Zacchini, F., Onofrillo, C., Di Viggiano, S., Penzo, M., Ansuini, A., ... & Montanaro, L. (2020). DKC1 overexpression induces a more aggressive cellular behavior and increases intrinsic ribosomal activity in immortalized mammary gland cells. Cancers, 12(12), 3512.

Ko, E., Kim, J. S., Ju, S., Seo, H. W., Chang, Y., Kang, J. A., ... & Jung, G. (2018). Oxidatively Modified Protein‐Disulfide Isomerase–Associated 3 Promotes Dyskerin Pseudouridine Synthase 1–Mediated Malignancy and Survival of Hepatocellular Carcinoma Cells. Hepatology, 68(5), 1851-1864.

Ratnasamy, V., Navaneethakrishnan, S., Sirisena, N. D., Grüning, N. M., Brandau, O., Thirunavukarasu, K., ... & Dissanayake, V. H. (2018). Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. BMC Medical Genetics, 19(1), 1-6.

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For research use only. Not intended for any clinical use.

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