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DKC1 Antibody (Center)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| IF, IHC-P, WB, E |
|---|---|
| Primary Accession | O60832 |
| Other Accession | Q9ESX5, NP_001354.1 |
| Reactivity | Human, Mouse |
| Host | Rabbit |
| Clonality | Polyclonal |
| Isotype | Rabbit IgG |
| Calculated MW | 57674 Da |
| Antigen Region | 185-213 aa |
| Gene ID | 1736 |
|---|---|
| Other Names | H/ACA ribonucleoprotein complex subunit 4, 5499-, CBF5 homolog, Dyskerin, Nopp140-associated protein of 57 kDa, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1, DKC1, NOLA4 |
| Target/Specificity | This DKC1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 185-213 amino acids from the Central region of human DKC1. |
| Dilution | IF~~1:10~50 WB~~1:1000 IHC-P~~1:50~100 |
| Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
| Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
| Precautions | DKC1 Antibody (Center) is for research use only and not for use in diagnostic or therapeutic procedures. |
| Name | DKC1 (HGNC:2890) |
|---|---|
| Synonyms | NOLA4 |
| Function | [Isoform 1]: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674, PubMed:32554502). 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). |
| Cellular Location | [Isoform 1]: Nucleus, nucleolus. Nucleus, Cajal body {ECO:0000250|UniProtKB:P40615} |
| Tissue Location | Ubiquitously expressed. |
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Provided below are standard protocols that you may find useful for product applications.
Background
DKC1 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.
References
Rostamiani, K., et al. Blood Cells Mol. Dis. 44 (2), 88 (2010) :
Grozdanov, P.N., et al. Hum. Mol. Genet. 18(23):4546-4551(2009)
Ashbridge, B., et al. Biochemistry 48(46):10858-10865(2009)
Sieron, P., et al. Br. J. Cancer 101(8):1410-1416(2009)
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