Cell Biology Antibodies 17

Anti-DKC1 Antibody (CAB4407)

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SKU:
CAB4407
Product Type:
Antibody
Antibody Type:
Monoclonal Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Synonyms:
CBF5
Synonyms:
DKC
Synonyms:
DKCX
Synonyms:
NAP57
Synonyms:
NOLA4
Synonyms:
XAP101
Research Area:
Cell Biology

Description

Product Name:DKC1 Rabbit mAb
Product Code:CAB4407
Size:20uL, 50uL, 100uL
Synonyms:CBF5, DKC, DKCX, NAP57, NOLA4, XAP101
Applications:WB, IHC
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:A synthesized peptide derived from human DKC1
Applications:WB, IHC
Recommended Dilutions:WB 1:500 - 1:2000 IHC 1:50 - 1:200
Reactivity:Human, Mouse, Rat
Positive Samples:PC-3, Mouse brain, Mouse heart, Rat liver
Immunogen:A synthesized peptide derived from human DKC1
Purification Method:Affinity purification
Storage:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:1736
Uniprot:O60832
Calculated MW:58kDa
Observed MW:60KDa
UniProt Protein Function: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.
UniProt Protein Details:

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

Chromosomal Location of Human Ortholog: Xq28

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

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

Biological Process: box H/ACA snoRNA 3'-end processing; cell proliferation; positive regulation of telomerase activity; positive regulation of telomere maintenance via telomerase; RNA processing; rRNA processing; rRNA pseudouridine synthesis; snRNA pseudouridine synthesis; telomere maintenance; telomere maintenance via telomerase

Disease: Dyskeratosis Congenita, X-linked

NCBI Summary: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 Code:O60832
NCBI GenInfo Identifier:3913488
NCBI Gene ID:1736
NCBI Accession:O60832.3
UniProt Secondary Accession:O60832,O43845, Q96G67, Q9Y505, F5BSB3,
UniProt Related Accession:O60832
Molecular Weight:47,603 Da
NCBI Full Name:H/ACA ribonucleoprotein complex subunit 4
NCBI 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 4
UniProt Protein Name:H/ACA ribonucleoprotein complex subunit 4
UniProt Synonym Protein Names:CBF5 homolog; Dyskerin; Nopp140-associated protein of 57 kDa; Nucleolar protein NAP57; Nucleolar protein family A member 4; snoRNP protein DKC1
UniProt Gene Name:DKC1  
UniProt Entry Name:DKC1_HUMAN
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