Names
Name
Species
Main
Cbf5p 
Saccharomyces cerevisiae 
False 
Dkc1 
 
False 
dyskerin 
Homo sapiens, Mus musculus 
True 
NAP57 
Homo sapiens, Rattus norvegicus 
False 
Keywords
genetic disease, dyskeratosis, pseudouridylation, pua, ribosome assembly, snoRNP, telomere, rnp assembly, nucleolus, dyskeratosis congenita, pluripotency, lung disease
Location
Location
Species
HSAXq28 
Homo sapiens 
Subcellular Localisation
Stage
Description
Details
Links
Protein Sequence
MwPredict
PIPredict
MwActual
PIActual
AANo
Links
Annotation
Start
End
Domain
Description
10 
17 
NLS 
 
107 
247 
TruB N 
 
297 
371 
PUA 
putative RNA binding 
446 
449 
NLS 
 
498 
505 
NLS 
 
Biological Process
GO ID
Term
Links
GO:0000154 
rRNA modification 
GO:0006364 
rRNA processing 
GO:0007004 
telomerase-dependent telomere maintenance 
GO:0007046 
ribosome biogenesis 
GO:0022618 
ribonucleoprotein complex assembly 
GO:0019827 
stem cell maintenance 
Molecular Function
GO ID
Term
Links
GO:0004730 
pseudouridylate synthase activity 
GO:0030515 
snoRNA binding 
Other Function
Function
Links
X-linked dyskeratosis congenita and HOYERAAL-HREIDARSSON SYNDROME (HHS) 
Expression
Related Genes
Name
Species
Links
CBF5 
Saccharomyces cerevisiae 
History
Created On
Last Changed
2001-06-27 11:57:54 
2006-05-10 17:03:39