genetic disease, dyskeratosis, pseudouridylation, pua, ribosome assembly, snoRNP, telomere, rnp assembly, nucleolus, dyskeratosis congenita, pluripotency, lung disease
297
371
PUA
putative RNA binding
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
GO:0004730
pseudouridylate synthase activity
GO:0030515
snoRNA binding
X-linked dyskeratosis congenita and HOYERAAL-HREIDARSSON SYNDROME (HHS)
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)
CBF5
Saccharomyces cerevisiae