DKC1 (Human) Recombinant Protein (Q01)
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More Files
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Specification
Product Description
Human DKC1 partial ORF ( AAH09928, 321 a.a. - 420 a.a.) recombinant protein with GST-tag at N-terminal.
Sequence
LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
Host
Wheat Germ (in vitro)
Theoretical MW (kDa)
36.63
Interspecies Antigen Sequence
Mouse (96); Rat (88)
Preparation Method
Purification
Glutathione Sepharose 4 Fast Flow
Quality Control Testing
12.5% SDS-PAGE Stained with Coomassie Blue.
Storage Buffer
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
Note
Best use within three months from the date of receipt of this protein.
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Applications
Enzyme-linked Immunoabsorbent Assay
Western Blot (Recombinant protein)
Antibody Production
Protein Array
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Gene Info — DKC1
Entrez GeneID
1736GeneBank Accession#
BC009928Protein Accession#
AAH09928Gene 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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