Overview

  • Product nameAnti-DKC1 antibody
    See all DKC1 primary antibodies
  • Description
    Goat polyclonal to DKC1
  • Tested applicationsSuitable for: IHC-P, WB, ELISAmore details
  • Species reactivity
    Reacts with: Human
    Predicted to work with: Mouse, Chimpanzee, Baboon, Rhesus monkey
  • Immunogen

    Synthetic peptide:

    C-KRKRESESESDETPP

    , corresponding to internal sequence amino acids 446-460 of Human DKC1

Properties

Applications

Our Abpromise guarantee covers the use of ab60174 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
IHC-P
WB
ELISA
  • Application notesELISA: Use at an assay dependent dilution.
    IHC-P: Use at a concentration of 5 µg/ml.
    Western Blot: Preliminary experiments gave an approx 70-75kDa band in Human Bone Marrow, Duodenum and Skin lysates after 0.01µg/ml antibody staining. Please note that currently we cannot find an explanation in the literature for the band we observe given the predicted size of 57.7kDa. The 70-75kDa band was successfully blocked by incubation with the immunizing peptide.


    Not yet tested in other applications.
    Optimal dilutions/concentrations should be determined by the end user.
  • Target

    • 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
    • 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

    Anti-DKC1 antibody images

    • ab60174 at 5ug/ml staining DKC1 in human spleen tissue section by Immunohistochemistry (Formalin/PFA fixed paraffin-embedded sections).
      Tissue underwent antigen retrieval in steam with citrate buffer (pH 6.0). The AP-staining procedure was used for detection.

    References for Anti-DKC1 antibody (ab60174)

    ab60174 has not yet been referenced specifically in any publications.

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    There are currently no Abreviews or Questions for ab60174.
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    Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"