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. 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 | 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
|
506 | |||||||||
|
UniProtKB:Q7ZUT3
|
497 |
Interactions and Pathways
No data available
Plasmids
No data available