Gene
dkc1
- ID
- ZDB-GENE-031118-120
- Name
- dyskeratosis congenita 1, dyskerin
- Symbol
- dkc1 Nomenclature History
- Previous Names
-
- fc87a02
- fi24a05
- fv62a07
- wu:fa28f10
- wu:fc87a02
- wu:fi24a05
- wu:fv62a07
- zgc:110395
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable pseudouridine synthase activity. Acts upstream of or within definitive hemopoiesis and rRNA processing. Predicted to be located in Cajal body and nucleolus. Predicted to be part of box H/ACA snoRNP complex. Is expressed in central nervous system; optic tectum; and proliferative region. 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).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| X-linked dyskeratosis congenita | Alliance | Dyskeratosis congenita, X-linked | 305000 |
| ?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | 301108 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002478 | PUA domain |
| Domain | IPR002501 | Pseudouridine synthase II, N-terminal |
| Domain | IPR004521 | Uncharacterised domain CHP00451 |
| Domain | IPR012960 | Dyskerin-like |
| Domain | IPR032819 | tRNA pseudouridylate synthase B, C-terminal |
| Family | IPR004802 | tRNA pseudouridine synthase B family |
| Homologous_superfamily | IPR015947 | PUA-like superfamily |
| Homologous_superfamily | IPR020103 | Pseudouridine synthase, catalytic domain superfamily |
| Homologous_superfamily | IPR036974 | PUA domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Dyskerin-like | Pseudouridine synthase, catalytic domain superfamily | Pseudouridine synthase II, N-terminal | PUA domain | PUA domain superfamily | PUA-like superfamily | tRNA pseudouridine synthase B family | tRNA pseudouridylate synthase B, C-terminal | Uncharacterised domain CHP00451 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1Q749 | InterPro | 506 | |||||||||
| UniProtKB:Q7ZUT3 | InterPro | 497 |
Interactions and Pathways
No data available
Plasmids
No data available