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
2001-06-27 11:57:54
2006-05-10 17:03:39