Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Storage bufferPreservative: 0.02% Sodium Azide
Constituents: 0.5% BSA, Tris buffered saline, pH 7.3
Concentration information loading...
PurityImmunogen affinity purified
Purification notesPurified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
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.
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.
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
- CBF5 antibody
- CBF5 homolog antibody
- Cbf5p homolog antibody
ab60174 has not yet been referenced specifically in any publications.