DKC1 purified MaxPab mouse polyclonal antibody (B01P)
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Specification
Product Description
Mouse polyclonal antibody raised against a full-length human DKC1 protein.
Immunogen
DKC1 (NP_001354, 1 a.a. ~ 514 a.a) full-length human protein.
Sequence
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE
Host
Mouse
Reactivity
Human
Interspecies Antigen Sequence
Mouse (91); Rat (83)
Quality Control Testing
Antibody reactive against mammalian transfected lysate.
Storage Buffer
In 1x PBS, pH 7.4
Storage Instruction
Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.
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Applications
Western Blot (Cell lysate)
DKC1 MaxPab polyclonal antibody. Western Blot analysis of DKC1 expression in A-431.Western Blot (Transfected lysate)
Western Blot analysis of DKC1 expression in transfected 293T cell line (H00001736-T01) by DKC1 MaxPab polyclonal antibody.
Lane 1: DKC1 transfected lysate(56.54 KDa).
Lane 2: Non-transfected lysate.
Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections)
Immunoperoxidase of purified MaxPab antibody to DKC1 on formalin-fixed paraffin-embedded human salivary gland. [antibody concentration 3 ug/ml]Immunofluorescence
Immunofluorescence of purified MaxPab antibody to DKC1 on HeLa cell. [antibody concentration 10 ug/ml] -
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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Publication Reference
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Control of protein synthesis through mRNA pseudouridylation by dyskerin.
Chiara Pederiva, Davide M Trevisan, Dimitra Peirasmaki, Shan Chen, Sharon A Savage, Ola Larsson, Jernej Ule, Laura Baranello, Federico Agostini, Marianne Farnebo.
Science Advances 2023 Jul; 9(30):eadg1805.
Application:IF, Human, Human fibroblasts.
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Control of protein synthesis through mRNA pseudouridylation by dyskerin.
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