DKC1
dyskeratosis congenita 1, dyskerin
Sinónimos:
CBF5, DKC, DKCX, NAP57, NOLA4, XAP101
Especie:
Human DKC1 (1736), Mouse Dkc1 (245474), Rat Dkc1 (170944), chicken DKC1 (422196), Zebrafish dkc1 (613144), dog DKC1 (492263), domestic cat DKC1 (101096046), Horse DKC1 (100062345), cow DKC1 (525619), sheep DKC1 (100216437) ...Más
ID UniProtKB:
ID del gen:
- Human(1736) 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, Feb 2013]
- Mouse(245474) dyskeratosis congenita 1, dyskerin
- Rat(170944) dyskeratosis congenita 1, dyskerin
- chicken(422196) dyskeratosis congenita 1, dyskerin
- Zebrafish(613144) dyskeratosis congenita 1, dyskerin
- dog(492263) dyskeratosis congenita 1, dyskerin
- domestic cat(101096046) dyskeratosis congenita 1, dyskerin
- Horse(100062345) dyskeratosis congenita 1, dyskerin
- cow(525619) dyskeratosis congenita 1, dyskerin
- sheep(100216437) dyskeratosis congenita 1, dyskerin
- Domestic Rabbit(100328767) dyskeratosis congenita 1, dyskerin
- domestic guinea pig(100721753) dyskeratosis congenita 1, dyskerin
- naked mole-rat(101723640) dyskeratosis congenita 1, dyskerin
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Antibodies
Referencia del producto
Descripción
Reactividad de especies
Aplicación
Anti-Dyskerin (Rabbit), from rabbit, purified by affinity chromatography,
Reactividad de especies
human
Aplicación
immunofluorescence
immunoprecipitation (IP)
western blot
immunoprecipitation (IP)
western blot
Anti-DKC1 antibody produced in rabbit, Ab1, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Reactividad de especies
human
Aplicación
immunohistochemistry
western blot
western blot
Anti-DKC1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody,
Reactividad de especies
human
Aplicación
immunofluorescence
western blot
western blot
Anti-Dyskerin (Sheep), from sheep, purified by affinity chromatography,
Reactividad de especies
human
Aplicación
ChIP
immunoprecipitation (IP)
western blot
immunoprecipitation (IP)
western blot
Anti-DKC1 antibody produced in rabbit, Ab2, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Reactividad de especies
human
Aplicación
immunohistochemistry