Rabbit Dyskerin Polyclonal Antibody | anti-DKC1 antibody

Dyskerin Polyclonal Antibody

Cat. Num. AAA3008061

• Gene Names: DKC1; DKC; CBF5; DKCX; NAP57; NOLA4; XAP101
• Reactivity: Human, Mouse, Rat
• Applications: Western Blot, Immunohistochemistry, Immunofluorescence
• Purity: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is >95% (by SDS-PAGE).
• Synonyms: Dyskerin; Polyclonal Antibody; Dyskerin Polyclonal Antibody; H/ACA ribonucleoprotein complex subunit 4; CBF5 homolog; Nopp140-associated protein of 57 kDa; Nucleolar protein NAP57; Nucleolar protein family A member 4; snoRNP protein DKC1; DKC1; NOLA4; anti-DKC1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Dyskerin polyclonal antibody detects endogenous levels of Dyskerin protein.
• Purity/Purification: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is >95% (by SDS-PAGE).
• Form/Format: Rabbit IgG, 1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2
• Sequence Length: 514

• Applicable Applications for anti-DKC1 antibody: Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)
• Application Notes: WB: 1:500-1:2000; IHC: 1:50-1:200; IF: 1:50-1:200
• Immunogen: Recombinant full length Human Dyskerin.
• Preparation and Storage: Store at 4 degree C short term.; Aliquot and store at -20 degree C long term.; Avoid freeze-thaw cycles.

Western Blot (WB)

(Western Blot analysis of extracts of various cell lines, using Dyskerin antibody.)

Immunofluorescence (IF)

(Immunofluorescence analysis of U2OS cells, using Dyskerin polyclonal antibody)

Related Product Information for anti-DKC1 antibody

Dyskerin (NAP57) associates with the chaperone protein Nopp140 and forms a small ribonucleoprotein particle with GAR1 (NOLA1), NHP2 (NOLA2) and Nop10 for the isomerization of uridine to pseudouridine. GAR1, NHP2 and dyskerin localize to the dense fibrillar component of the nucleolus and in nuclear Cajal bodies. The dyskerin gene maps to chromosome Xq28. Missense mutations in the dyskerin gene interfere with normal nuclear localization of dyskerin and cause Dyskeratosis congenita (DKC). DKC is a rare, X-linked bone marrow disorder characterized by cutaneous hyperpigmentation, dystrophy of the nails, atrophy of the testicles and leukoplakia of the oral mucosa. The GAR1 gene maps to chromosome 4q25. The NHP2 gene maps to chromosome 5q35.3 and encodes a 155-amino acid protein.

NCBI and Uniprot Product Information

• NCBI GI #: 4503337
• NCBI GeneID: 1736
• NCBI Accession #: NP_001354.1
• NCBI GenBank Nucleotide #: NP_001354.1
• UniProt Accession #: O60832
• Molecular Weight: ~ 43kDa
• NCBI Official Full Name: H/ACA ribonucleoprotein complex subunit DKC1 isoform 1
• NCBI Official Synonym Full Names: dyskerin pseudouridine synthase 1
• NCBI Official Symbol: DKC1
• NCBI Official Synonym Symbols: DKC; CBF5; DKCX; NAP57; NOLA4; XAP101
• NCBI Protein Information: H/ACA ribonucleoprotein complex subunit DKC1
• UniProt Protein Name: H/ACA ribonucleoprotein complex subunit 4
• UniProt Gene Name: DKC1
• UniProt Synonym Gene Names: NOLA4
• UniProt Entry Name: DKC1_HUMAN

NCBI Description

This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Uniprot Description

dyskerin: 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. Defects in DKC1 are a cause of dyskeratosis congenita X- linked recessive (XDKC). 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). HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. Belongs to the pseudouridine synthase TruB family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Isomerase; RNA processing; RNA-binding; Lyase; EC 5.4.99.-; Nucleolus

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: nucleoplasm; Cajal body; cytoplasm; telomerase holoenzyme complex; nucleolus; nucleus

Molecular Function: telomerase activity; protein binding; RNA binding; pseudouridine synthase activity

Biological Process: RNA processing; cell proliferation; pseudouridine synthesis; telomere maintenance via telomerase; telomere maintenance; rRNA processing

Disease: Dyskeratosis Congenita, X-linked