2. Gene
  3. Dkc1 - dyskeratosis congenita 1, dyskerin Gene

Dkc1 - dyskeratosis congenita 1, dyskerin Gene

  • 基因
  • 蛋白
  • 相关产品
  • 直系同源

种属: Mus musculus

基因 ID: 245474 | 基因类型: protein coding

关于 Dkc1

功能概要

Predicted to enable box H/ACA snoRNA binding activity; pseudouridine synthase activity; and Telomerase RNA binding activity. Predicted to contribute to Telomerase activity. Acts upstream of or within ncRNA metabolic process and positive regulation of DNA biosynthetic process. Located in Cajal body and nucleolus. Is expressed in several structures, including brain; epithelium; genitourinary system; skin; and surface ectoderm. Used to study dyskeratosis congenita. Human ortholog(s) of this gene implicated in X-linked dyskeratosis congenita; aplastic anemia; and dyskeratosis congenita. Orthologous to human DKC1 (dyskerin pseudouridine synthase 1). [provided by Alliance of Genome Resources, Apr 2022]

Dkc1 基因产物(8)

mRNA Protein Name
NM_001030307.2 NP_001025478.1 H/ACA ribonucleoprotein complex subunit DKC1 isoform 3
NM_001359411.1 NP_001346340.1 H/ACA ribonucleoprotein complex subunit DKC1 isoform 1
NM_001359412.1 NP_001346341.1 H/ACA ribonucleoprotein complex subunit DKC1 isoform 2
NM_001359413.1 NP_001346342.1 H/ACA ribonucleoprotein complex subunit DKC1 isoform 4
NM_001030307.2 NP_001025478.1 H/ACA ribonucleoprotein complex subunit DKC1 isoform 3
NM_001359411.1 NP_001346340.1 H/ACA ribonucleoprotein complex subunit DKC1 isoform 1
NM_001359412.1 NP_001346341.1 H/ACA ribonucleoprotein complex subunit DKC1 isoform 2
NM_001359413.1 NP_001346342.1 H/ACA ribonucleoprotein complex subunit DKC1 isoform 4
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
23685356 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within box H/ACA sno(s)RNA metabolic process IMP
IMP: 通过突变表型推断
23726835 MGI
acts upstream of or within positive regulation of telomere maintenance via telomerase IMP
IMP: 通过突变表型推断
15240872 MGI
acts upstream of or within rRNA pseudouridine synthesis IMP
IMP: 通过突变表型推断
15240872 MGI
acts upstream of or within telomerase holoenzyme complex assembly IMP
IMP: 通过突变表型推断
15240872 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Cajal body IDA
IDA: 通过直接分析推断
23726835 MGI
located in nucleolus IDA
IDA: 通过直接分析推断
23726835 MGI
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断
蛋白主名 其他名称

H/ACA ribonucleoprotein complex subunit DKC1

dyskeratosis congenita 1, dyskerin homolog

dyskerin

h/ACA ribonucleoprotein complex subunit 4

nopp140-associated protein of 57 kDa

nucleolar protein NAP57

nucleolar protein family A member 4

snoRNP protein DKC1

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03786 DKC1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS19319 Dkc1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25810 Dkc1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Dkc1 NCBI NCBI:1736
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