DKC1 293T Cell Transient Overexpression Lysate(Denatured)
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Specification
Transfected Cell Line
293T
Plasmid
pCMV-DKC1 full-length
Host
Human
Theoretical MW (kDa)
56.65
Interspecies Antigen Sequence
Mouse (91); Rat (83)
Quality Control Testing
Transient overexpression cell lysate was tested with Anti-DKC1 antibody (H00001736-B01) by Western Blots.
Western Blot
Lane 1: DKC1 transfected lysate ( 57.7 KDa)
Lane 2: Non-transfected lysate.SDS-PAGE Gel
DKC1 transfected lysate.
Storage Buffer
1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
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Applications
Western Blot
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Gene Info — DKC1
Entrez GeneID
1736GeneBank Accession#
NM_001363Protein Accession#
NP_001354Gene Name
DKC1
Gene Alias
CBF5, DKC, FLJ97620, NAP57, NOLA4, XAP101
Gene Description
dyskeratosis congenita 1, dyskerin
Gene Ontology
HyperlinkGene Summary
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
Other Designations
H/ACA ribonucleoprotein complex subunit 4|OTTHUMP00000026046|cbf5p homolog|dyskerin|nopp140-associated protein of 57 kDa|nucleolar protein family A member 4|snoRNP protein DKC1
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Interactome
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Disease
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