Dkc1 - dyskeratosis congenita 1, dyskerin Gene

Species: Mus musculus

Gene Type: protein coding
Gene ID: 245474

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23685356 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within box H/ACA sno(s)RNA metabolic process IMP
IMP: Inferred from mutant phenotype
23726835 MGI
acts upstream of or within positive regulation of telomere maintenance via telomerase IMP
IMP: Inferred from mutant phenotype
15240872 MGI
acts upstream of or within rRNA pseudouridine synthesis IMP
IMP: Inferred from mutant phenotype
15240872 MGI
acts upstream of or within telomerase holoenzyme complex assembly IMP
IMP: Inferred from mutant phenotype
15240872 MGI
Cellular Component GO Annotation Evidence References Source
located in Cajal body IDA
IDA: Inferred from direct assay
23726835 MGI
located in nucleolus IDA
IDA: Inferred from direct assay
23726835 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. 상품명
효과
Purity
Rare Diseases
HY-RS19319 Dkc1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS03786 DKC1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25810 Dkc1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Dkc1 NCBI NCBI:1736