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 have pseudouridine synthase activity. Involved in definitive hemopoiesis and rRNA processing. Predicted to localize to box H/ACA snoRNP complex. 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
Expression
All Expression Data
from Stuckenholz et al., 2009
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from Zhang et al., 2012
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dkc1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
X-linked dyskeratosis congenita Alliance Dyskeratosis congenita, X-linked 305000
Associated With dkc1 Via Experimental Models
Gene Ontology
Protein Domains
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
Domain Details Per Protein
Protein Length Dyskerin-like Pseudouridine synthase, catalytic domain superfamily Pseudouridine synthase II, N-terminal PUA domain PUA-like superfamily tRNA pseudouridine synthase B family tRNA pseudouridylate synthase B, C-terminal Uncharacterised domain CHP00451
UniProtKB:E7F423 56
UniProtKB:Q498Z9 507
UniProtKB:Q7ZUT3 497
UniProtKB:F1Q749 506
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations