Overview

  • Product name
  • Description
    Rabbit polyclonal to DKC1
  • Tested applications
    Suitable for: WB, IHC-P, ICC/IFmore details
  • Species reactivity
    Reacts with: Human
  • Immunogen

    Recombinant fragment, corresponding to a region within amino acids 221-449 of Human DKC1 (O60832).

  • Positive control
    • A549, HeLa, HepG2 and HCT116 whole cell lysates; HeLa cells; Human BT474 xenograft tissue.
  • General notes
    Keep as concentrated solution.

Properties

Applications

Our Abpromise guarantee covers the use of ab126049 in the following tested applications.

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

Application Abreviews Notes
WB 1/500 - 1/3000. Predicted molecular weight: 58 kDa.
IHC-P 1/100 - 1/1000. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.
ICC/IF 1/100 - 1/1000.

Target

  • Function
    Isoform 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 specificity
    Ubiquitously expressed.
  • Involvement in disease
    Defects 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 similarities
    Belongs to the pseudouridine synthase TruB family.
    Contains 1 PUA domain.
  • Cellular localization
    Cytoplasm and Nucleus > nucleolus. Nucleus > Cajal body. Also localized to Cajal bodies.
  • Information by UniProt
  • Database links
  • 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
    see all

Images

  • All lanes : Anti-DKC1 antibody (ab126049) at 1/1000 dilution

    Lane 1 : HeLa whole cell lysate
    Lane 2 : HepG2 whole cell lysate

    Lysates/proteins at 30 µg per lane.


    Predicted band size : 58 kDa
  • ab126049 at 1/250 dilution, staining DKC1 in Paraffin-embedded BT474 xenograft tissue by Immunohistochemistry.
  • ab126049, at 1/500 dilution, staining DKC1 in HeLa cells by Immunofluorescence (green). Alpha-tubulin filaments were labeled in Red.

References

ab126049 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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