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Names
X
Name
Species
Main
Cbf5p
Saccharomyces cerevisiae
False
Dkc1
False
dyskerin
Homo sapiens, Mus musculus
True
NAP57
Homo sapiens, Rattus norvegicus
False
Keywords
X
genetic disease, dyskeratosis, pseudouridylation, pua, ribosome assembly, snoRNP, telomere, rnp assembly, nucleolus, dyskeratosis congenita, pluripotency, lung disease
Location
X
Location
Species
HSAXq28
Homo sapiens
Subcellular Localisation
X
Stage
Description
Details
Links
Interphase
nucleolus
PubMed:10556300
PubMed:11790298
PubMed:12429849
PubMed:16630896
Protein Sequence
X
MwPredict
PIPredict
MwActual
PIActual
AANo
Links
57.7
9.46
57
514
Entrez Protein:O60832
OMIM:300126
Uniprot:O60832
pubmed:24504062
57
509
Entrez Protein:P40615
Uniprot:P40615
Annotation
+
Biological Process
X
GO ID
Term
Links
GO:0000154
rRNA modification
PubMed:10924141
PubMed:12522253
GO:0006364
rRNA processing
PubMed:10924141
PubMed:15240872
GO:0007004
telomerase-dependent telomere maintenance
PubMed:10591218
PubMed:15240872
GO:0007046
ribosome biogenesis
PubMed:9848653
GO:0022618
ribonucleoprotein complex assembly
pubmed:19734544
GO:0019827
stem cell maintenance
pubmed: 25407680
Molecular Function
X
GO ID
Term
Links
GO:0004730
pseudouridylate synthase activity
PubMed:10924141
GO:0030515
snoRNA binding
PubMed:11074001
PubMed:15044956
Other Function
X
Function
Links
X-linked dyskeratosis congenita and HOYERAAL-HREIDARSSON SYNDROME (HHS)
OMIM:300240
OMIM:305000
Expression
X
Experiment
Detail
Links
In situ
ubiquitous expression day 10.5-18.5 in mouse. Higher expression in epithelial tissues and embryonic neural tissues. In adult high expression in specific neurons in the cerebellum (Purkinje cells) and the olfactory bulb (mitral cells)
PubMed:10903840
Related Genes
X
Name
Species
Links
CBF5
Saccharomyces cerevisiae
PubMed:11160879
PubMed:11074001
History
+