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Invitrogen
DKC1 Polyclonal Antibody
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Product Details
PA5-110612
Applications
Tested Dilution
Publications
Product Specifications
Species Reactivity
Human
Host/Isotype
Rabbit
/ IgG
Class
Polyclonal
Type
Antibody
Immunogen
Recombinant Protein corresonding to Human DKC1. Recombinant protein control fragment (Product #RP-92002).
Conjugate
Form
Liquid
Purification
Antigen affinity chromatography
Storage buffer
PBS, pH 7.2, with 40% glycerol
Contains
0.02% sodium azide
Storage conditions
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
Shipping conditions
Wet ice
RRID
AB_2856023
Product Specific Information
Immunogen sequence: EAGTYIRTLC VHLGLLLGVG GQMQELRRVR SGVMSEKDHM VTMHDVLDAQ WLYDNHKDES YLRRVVYPLE KLLTSHKRLV MKDSAVNAIC YGAKIMLPGV LRYEDGIEVN QEIVVIT
Target Information
This gene is a member of the H/ACA snoRNPs 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 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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Bioinformatics
Protein Aliases: CBF5 homolog; dyskeratosis congenita 1, dyskerin; Dyskerin; H/ACA ribonucleoprotein complex subunit DKC1; Nopp140-associated protein of 57 kDa; Nucleolar protein family A member 4; Nucleolar protein NAP57; snoRNP protein DKC1
Gene Aliases: CBF5; DKC; DKC1; DKCX; NAP57; NOLA4; XAP101
UniProt ID: (Human) O60832
Entrez Gene ID: (Human) 1736
box H/ACA snoRNA 3'-end processing
rRNA processing
RNA processing
telomere maintenance via telomerase
cell proliferation
rRNA pseudouridine synthesis
snRNA pseudouridine synthesis
positive regulation of telomere maintenance via telomerase
positive regulation of telomerase activity
telomerase RNA stabilization
positive regulation of establishment of protein localization to telomere
positive regulation of telomerase RNA localization to Cajal body
mRNA pseudouridine synthesis
Performance Guarantee
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
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