Overview

Description

  • NatureSynthetic

Associated products

Specifications

Our Abpromise guarantee covers the use of ab71334 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Purity70 - 90% by HPLC.

  • FormLiquid
  • Additional notes

    - First try to dissolve a small amount of peptide in either water or buffer. The more charged residues on a peptide, the more soluble it is in aqueous solutions.
    - If the peptide doesn’t dissolve try an organic solvent e.g. DMSO, then dilute using water or buffer.
    - Consider that any solvent used must be compatible with your assay. If a peptide does not dissolve and you need to recover it, lyophilise to remove the solvent.
    - Gentle warming and sonication can effectively aid peptide solubilisation. If the solution is cloudy or has gelled the peptide may be in suspension rather than solubilised.
    - Peptides containing cysteine are easily oxidised, so should be prepared in solution just prior to use.

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

    Information available upon request.

General Info

  • Alternative names
    • CBF5
    • CBF5 homolog
    • Cbf5p homolog
    • DKC
    • DKC 1
    • Dkc1
    • DKC1_HUMAN
    • DKCX
    • Dyskeratosis congenita 1
    • Dyskeratosis congenita 1 dyskerin
    • Dyskerin
    • H/ACA ribonucleoprotein complex subunit 4
    • NAP 57
    • NAP57
    • NOLA 4
    • NOLA4
    • Nopp140 associated protein of 57 kDa
    • Nopp140-associated protein of 57 kDa
    • Nucleolar protein family A member 4
    • Nucleolar protein NAP57
    • snoRNP protein DKC1
    • XAP 101
    • XAP101
    see all
  • FunctionIsoform 1: Required for ribosome biogenesis and telomere maintenance. Probable 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. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
    Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells).
  • Tissue specificityUbiquitously expressed.
  • Involvement in diseaseDefects in DKC1 are a cause of dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]. XDKC is 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.
    Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]. HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation.
  • Sequence similaritiesBelongs to the pseudouridine synthase TruB family.
    Contains 1 PUA domain.
  • Cellular localizationCytoplasm and Nucleus > nucleolus. Nucleus > Cajal body. Also localized to Cajal bodies.
  • Information by UniProt

References for Human DKC1 peptide (ab71334)

ab71334 has not yet been referenced specifically in any publications.

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