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245474 Dkc1

245474

Dkc1

dyskeratosis congenita 1, dyskerin

protein-coding

Mus musculus

基因描述

Type Description
Definition dyskeratosis congenita 1, dyskerin

研究结论

Date Results Publications
2013-09-07 10:39:00 Mouse embryonic fibroblasts cells with no pseudouridylation activity in H/ACA snoRNPs due to lack of Dkc1, can produce mature ribosomes, however, the ribosomes are very unstable and cell growth and division is very slow. 23726835
2013-03-16 11:10:00 mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain. 22855157
2010-07-05 11:42:00 A mouse small nucleolar snoRNA microarray was used to monitor changes in abundance of snoRNAs after ablation of dyskerin, an H/ACA snoRNA protein component, from mouse liver, which causes a decrease in ribosome production. 20423331
2010-01-25 11:43:00 hepatocytes can survive without dyskerin but the role of dyskerin in RNA modification is essential for cellular proliferation. 19917719
2010-01-21 00:00:00 Female mice carrying the deletion in the paternally derived Dkc1 show extreme skewing of X-inactivation with the wild type X-chromosome active in all cells. 12400016

名称对应

Type IDs
Synonymous BC068171
Gene
UniProtKB-ID: DKC1_MOUSE
UniprotKB: Q9ESX5
UniParc: UPI00001C651D
EMBL: AJ250975, AJ250977, AJ250980, AJ250976, AJ250974, AJ250972, AJ250973, AJ250978, AJ250981, AJ250979, AK136418, AL808110
Ensembl: ENSMUSG00000031403
KO: mmu:245474
Nucleutide sequences
EMBL-CDS: CAC04528.1, BAE22970.1
Ensembl_TRS: ENSMUST00000033776
Protein sequencees
Ensembl_PRO: ENSMUSP00000033776
RefSeq: NP_001346340.1, NP_001346342.1, NP_001025478.1, NP_001346341.1, XP_030107198.1
Others
UniRef100: UniRef100_Q9ESX5
UniRef90: UniRef90_Q9ESX5
UniRef50: UniRef50_Q9ESX5
UniGene: Mm.291062
CCDS: CCDS41029.1

全选

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