Rabbit anti-Human, Mouse DKC1 Polyclonal Antibody | anti-DKC1 antibody

DKC1, ID (DKC1, NOLA4, H/ACA ribonucleoprotein complex subunit 4, CBF5 homolog, Dyskerin, Nopp140-associated protein of 57kD, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1) (MaxLight 550)

Cat. Num. AAA6292252

• Gene Names: DKC1; DKC; CBF5; DKCX; NAP57; NOLA4; XAP101
• Reactivity: Human, Mouse
• Applications: Immunofluorescence, Immunohistochemistry, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: DKC1; Polyclonal Antibody; ID (DKC1; NOLA4; H/ACA ribonucleoprotein complex subunit 4; CBF5 homolog; Dyskerin; Nopp140-associated protein of 57kD; Nucleolar protein NAP57; Nucleolar protein family A member 4; snoRNP protein DKC1) (MaxLight 550); snoRNP protein DKC1; anti-DKC1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with MaxLight550.

• Applicable Applications for anti-DKC1 antibody: Immunofluorescence (IF), FLISA, Immunohistochemistry (IHC), Western Blot (WB)
• Application Notes: IF: 1:10-50; FLISA: 1:1,000; IHC: 1:50-100; WB: 1:100-500; Applications are based on unconjugated antibody.
• Immunogen: DKC1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 192-221 amino acids from the Central region of human DKC1.
• Conjugate: MaxLight550
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: MaxLight550 conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Related Product Information for anti-DKC1 antibody

MaxLight550 is a new Yellow-Green photostable dye conjugate comparable to Alexa Fluor546, 555, DyLight549, Cy3, TRITC and offers better labeling efficiency, brighter imaging and increased immunodetection. Absorbance (550nm); Emission (575nm); Extinction Coefficient 150,000.

Product Categories/Family for anti-DKC1 antibody

Antibodies; Nuclear Proteins

References

Rostamiani, K., et al. Blood Cells Mol. Dis. 44 (2), 88 (2010): Grozdanov, P.N., et al. Hum. Mol. Genet. 18(23):4546-4551(2009). Ashbridge, B., et al. Biochemistry 48(46):10858-10865(2009). Sieron, P., et al. Br. J. Cancer 101(8):1410-1416(2009).

NCBI and Uniprot Product Information

• NCBI GI #: 4503337
• NCBI GeneID: 1736
• NCBI Accession #: NP_001354.1
• NCBI GenBank Nucleotide #: NM_001363.3
• UniProt Accession #: O60832; O43845; Q96G67; Q9Y505; F5BSB3
• Molecular Weight: 57,674 Da
• NCBI Official Full Name: H/ACA ribonucleoprotein complex subunit 4 isoform 1
• NCBI Official Synonym Full Names: dyskeratosis congenita 1, dyskerin
• NCBI Official Symbol: DKC1
• NCBI Official Synonym Symbols: DKC; CBF5; DKCX; NAP57; NOLA4; XAP101
• NCBI Protein Information: H/ACA ribonucleoprotein complex subunit 4; CBF5 homolog; cbf5p homolog; snoRNP protein DKC1; nucleolar protein NAP57; nucleolar protein family A member 4; nopp140-associated protein of 57 kDa
• 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 is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

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