Dkc1 Gene Summary [Mouse]
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 RNA metabolic process; positive regulation of telomere maintenance via telomerase; and telomerase holoenzyme complex assembly. 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, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Dkc1 |
| Official Name | dyskeratosis congenita 1, dyskerin [Source:MGI Symbol;Acc:MGI:1861727] |
| Ensembl ID | ENSMUSG00000031403 |
| Bio databases IDs | |
| Aliases | dyskeratosis congenita 1, dyskerin |
| Synonyms | CBF5, CHINE1, DKC, DKCX, dyskeratosis congenita 1, dyskerin, dyskerin pseudouridine synthase 1, NAP57, NOLA4, Weakly similar to tyrosine-prtein kinase jak3, XAP101 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Dkc1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TruB family pseudouridylate synthase (N terminal domain)
- PUA domain
- PseudoU_synth
- enzyme
- protein binding
- RNA binding
- tRNA pseudouridylate synthase B C-terminal domain
- PUA RNA binding domain
- rRNA pseudouridine synthase, putative
- pseudouridine synthase
- snoRNA binding
- DKCLD (NUC011) domain
- uncharacterized domain 2
- telomerase
- tRNA pseudouridine(55) synthase
Pathways
Biological processes and signaling networks where the Dkc1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- colorectal cancer
- adenoma formation
- metastasis
- X-linked dyskeratosis congenita
- organismal death
- dyskeratosis congenita
- neuroblastoma
- neuroblastoma formation
- overall survival
role in cell
- proliferation
- apoptosis
- number
- expression in
- growth
- synthesis in
- telomere-length maintenance
- migration
- function
- invasion by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- interchromatin granule cluster fractions
- fibrillar center
- dense fibrillar component
- nucleoplasm
- nucleoli
- coiled body
- Cajal bodies
- chromatin
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Dkc1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- box H/ACA snoRNA 3'-end processing
- positive regulation of telomerase activity
- rRNA pseudouridine synthesis
- snRNA pseudouridine synthesis
- positive regulation of telomere maintenance via telomerase
- telomere maintenance via telomerase
- RNA processing
- rRNA processing
- enzyme-directed rRNA pseudouridine synthesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- box H/ACA snoRNP complex
- cytoplasm
- box H/ACA scaRNP complex
- telomerase holoenzyme complex
- nucleolus
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- telomerase activity
- protein binding
- RNA binding
- telomeric RNA binding
- pseudouridine synthase activity
- box H/ACA snoRNA binding