Goat DKC1 / Dyskerin Polyclonal Antibody | anti-DKC1 antibody

Goat Polyclonal to Human DKC1 / Dyskerin

Cat. Num. AAA241968

• Gene Names: DKC1; DKC; CBF5; DKCX; NAP57; NOLA4; XAP101
• Reactivity: Gorilla, Human, Monkey; Predicted Reactivity: Gibbon, Hamster (at least 90% immunogen sequence identity)
• Applications: Immunohistochemistry, ELISA
• Purity: Immunoaffinity Purified
• Synonyms: DKC1 / Dyskerin; Polyclonal Antibody; Goat Polyclonal to Human DKC1 / Dyskerin; Anti-DKC1 / Dyskerin Antibody (Internal) IHC-plus; DKC1; CBF5; Cbf5p homolog; Dyskerin; DKC; NAP57; NOLA4; Nucleolar protein NAP57; XAP101; CBF5 homolog; DKCX; Human DKC1; anti-DKC1 antibody

• Host: Goat
• Reactivity: Gorilla, Human, Monkey; Predicted Reactivity: Gibbon, Hamster (at least 90% immunogen sequence identity)
• Clonality: Polyclonal
• Specificity: Human DKC1.
• Purity/Purification: Immunoaffinity Purified
• Form/Format: Tris-buffered saline, pH 7.3, 0.5% BSA, 0.02% sodium azide
• Concentration: 0.5 mg/ml (varies by lot)
• Sequence Length: 514

• Applicable Applications for anti-DKC1 antibody: Immunohistochemistry (IHC - Paraffin), ELISA (EIA)
• Application Notes: ELISA (1:128000), IHC-P (5 ug/ml); Usage: Immunohistochemistry: was validated for use in immunohistochemistry on a panel of 21 formalin-fixed, paraffin-embedded (FFPE) human tissues after heat induced antigen retrieval in pH 6.0 citrate buffer. After incubation with the primary anti...
• Target Species: Human
• Immunogen Description: Synthetic peptide C-KRKRESESESDETPP from an internal region of human DKC1 (NP_001354.1). Percent identity by BLAST analysis: Human, Gorilla, Baboon, Monkey, Galago, Marmoset (100%); Gibbon, Hamster (93%); Mouse (87%); Horse, Pig, Armadillo (80%).
• Immunogen Type: Synthetic peptide
• Immunogen: DKC1 / Dyskerin antibody was raised against synthetic peptide C-KRKRESESESDETPP from an internal region of human DKC1 (NP_001354.1). Percent identity by BLAST analysis: Human, Gorilla, Baboon, Monkey, Galago, Marmoset (100%); Gibbon, Hamster (93%); Mouse (87%); Horse, Pig, Armadillo (80%).
• Antigen Modification: Internal
• Preparation and Storage: Store at -20 degree C. Minimize freezing and thawing.

Immunohistochemistry (IHC)

(Anti-DKC1 antibody IHC of human spleen. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody concentration 5 ug/ml.)

Related Product Information for anti-DKC1 antibody

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.

NCBI and Uniprot Product Information

• NCBI GI #: 4503337
• NCBI GeneID: 1736
• NCBI Accession #: NP_001354.1
• NCBI GenBank Nucleotide #: NM_001363.4
• UniProt Accession #: O60832; O43845; Q96G67; Q9Y505; F5BSB3
• Molecular Weight: 47,603 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; 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 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: EC 5.4.99.-; Isomerase; Lyase; RNA-binding; Nucleolus; RNA processing

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