Recombinant Human DKC1/Dyskerin protein is a Human Fragment protein, in the 321 to 420 aa range, expressed in Wheat germ and suitable for SDS-PAGE, ELISA, WB.
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Key facts
- Expression system
- Wheat germ
- Tags
- Tag free
- Applications
- SDS-PAGE, ELISA, WB
- Biologically active
- No
Amino acid sequence
L R Y E D G I E V N Q E I V V I T T K G E A I C M A I A L M T T A V I S T C D H G I V A K I K R V I M E R D T Y P R K W G L G P K A S Q K K L M I K Q G L L D K H G K P T D S T P A T W K Q E Y V D Y S
Reactivity data
| Application | Reactivity | Dilution info | Notes |
|---|---|---|---|
Application SDS-PAGE | Reactivity Reacts | Dilution info - | Notes - |
Application ELISA | Reactivity Reacts | Dilution info - | Notes - |
Application WB | Reactivity Reacts | Dilution info - | Notes - |
Target data
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). Isoform 3. Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.
Alternative names
NOLA4, DKC1, H/ACA ribonucleoprotein complex subunit DKC1, CBF5 homolog, Dyskerin, Nopp140-associated protein of 57 kDa, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1
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Recombinant Human DKC1/Dyskerin protein is a Human Fragment protein, in the 321 to 420 aa range, expressed in Wheat germ and suitable for SDS-PAGE, ELISA, WB.
Key facts
- Expression system
- Wheat germ
- Tags
- Tag free
- Applications
- SDS-PAGE, ELISA, WB
- Biologically active
- No
- Accession
- O60832-1
- Animal free
- No
- Species
- Human
- Concentration
- Storage buffer
pH: 8
Constituents: 0.79% Tris HCl, 0.31% Glutathione
Sequence info
Amino acid sequence
- L R Y E D G I E V N Q E I V V I T T K G E A I C M A I A L M T T A V I S T C D H G I V A K I K R V I M E R D T Y P R K W G L G P K A S Q K K L M I K Q G L L D K H G K P T D S T P A T W K Q E Y V D Y S
- Accession
- O60832
- Protein length
- Fragment
- Predicted molecular weight
- 36.63 kDa
- Amino acids
- 321 to 420
- Nature
- Recombinant
Specifications
- Form
- Liquid
General info
- Function
Isoform 1
- Sequence similarities
Belongs to the pseudouridine synthase TruB family.
- Subcellular localisation
- Nucleus, Nucleolus, Cajal body
Storage
- Shipped at conditions
- Dry Ice
- Appropriate short-term storage conditions
- -80°C
- Appropriate long-term storage conditions
- -80°C
- Aliquoting information
- Upon delivery aliquot
- Storage information
- Avoid freeze / thaw cycle
Notes
This product was previously labelled as DKC1.
Supplementary info
- This supplementary information is collated from multiple sources and compiled automatically.
- Activity summary
DKC1 also known as Dyskerin is a protein weighing approximately 57 kDa. It shows high expression in the nucleolus of cells aiding in key cellular processes. Dyskerin acts mechanically as a pseudouridine synthase which catalyzes the isomerization of uridine to pseudouridine in RNA molecules. This activity plays a significant role in rRNA modification and stabilization. Also Dyskerin functions as a scaffold within ribonucleoprotein complexes which is fundamental for ribosome biogenesis.
- Biological function summary
Dyskerin is essential for maintaining the integrity of ribosomal RNA through its action within the H/ACA ribonucleoprotein complex. The protein binds H/ACA box small nucleolar RNAs (snoRNAs) which guides it to specific uridine residues in rRNA thereby modifying them to pseudouridine. These modifications have an important role in forming functional ribosomes. Additionally Dyskerin contributes to the stabilization of telomerase RNA component which impacts telomere maintenance and length regulation.
- Pathways
The role of Dyskerin in ribosome biogenesis directly connects it to cellular growth and protein synthesis pathways. It associates with NOP10 GAR1 and NHP2 in the H/ACA ribonucleoprotein complex contributing to the processing of precursor rRNA. Dyskerin also associates with telomerase complex proteins like TERT functioning in the telomere maintenance pathway. In these pathways its activity ensures the accurate synthesis of proteins and the preservation of genomic stability.
- Associated diseases and disorders
Dyskerin mutations relate to X-linked dyskeratosis congenita a condition characterized by impaired telomere maintenance leading to bone marrow failure. Additionally abnormal levels of Dyskerin have associations with certain cancers due to its role in rRNA processing and telomere regulation which can drive malignant transformation. Proteins like TERC which forms part of the telomerase complex are frequently involved in these Dyskerin-related disorders highlighting Dyskerin's critical involvement in cellular division and stability.
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1 product image
SDS-PAGE - Recombinant Human DKC1/Dyskerin protein (ab152335)
12.5% SDS-PAGE analysis of ab152335 stained with Coomassie Blue.
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