| Tbio | U3 small nucleolar RNA-associated protein 4 homolog |
Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase (PubMed:17699751, PubMed:19732766). May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV (PubMed:19732766).
This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 3.5e-05 |
| invasive ductal carcinoma | 2951 | 4.4e-03 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 2.0e-02 |
| ependymoma | 4679 | 4.0e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Bowen-Conradi syndrome | 16 | 4.301 | 2.2 |
| Liver Cirrhosis | 181 | 3.594 | 1.8 |
| Cholestasis | 155 | 3.586 | 1.8 |
| Disease | Target Count |
|---|---|
| Hereditary North American Indian childhood cirrhosis | 1 |
| Disease | log2 FC | p |
|---|---|---|
| ependymoma | -1.100 | 4.0e-02 |
| invasive ductal carcinoma | -1.009 | 4.4e-03 |
| ovarian cancer | -1.200 | 3.5e-05 |
| pancreatic ductal adenocarcinoma liver m... | -1.387 | 2.0e-02 |
MGEFKVHRVRFFNYVPSGIRCVAYNNQSNRLAVSRTDGTVEIYNLSANYFQEKFFPGHESRATEALCWAE 1 - 70 GQRLFSAGLNGEIMEYDLQALNIKYAMDAFGGPIWSMAASPSGSQLLVGCEDGSVKLFQITPDKIQFERN 71 - 140 FDRQKSRILSLSWHPSGTHIAAGSIDYISVFDVKSGSAVHKMIVDRQYMGVSKRKCIVWGVAFLSDGTII 141 - 210 SVDSAGKVQFWDSATGTLVKSHLIANADVQSIAVADQEDSFVVGTAEGTVFHFQLVPVTSNSSEKQWVRT 211 - 280 KPFQHHTHDVRTVAHSPTALISGGTDTHLVFRPLMEKVEVKNYDAALRKITFPHRCLISCSKKRQLLLFQ 281 - 350 FAHHLELWRLGSTVATGKNGDTLPLSKNADHLLHLKTKGPENIICSCISPCGSWIAYSTVSRFFLYRLNY 351 - 420 EHDNISLKRVSKMPAFLRSALQILFSEDSTKLFVASNQGALHIVQLSGGSFKHLHAFQPQSGTVEAMCLL 421 - 490 AVSPDGNWLAASGTSAGVHVYNVKQLKLHCTVPAYNFPVTAMAIAPNTNNLVIAHSDQQVFEYSIPDKQY 491 - 560 TDWSRTVQKQGFHHLWLQRDTPITHISFHPKRPMHILLHDAYMFCIIDKSLPLPNDKTLLYNPFPPTNES 561 - 630 DVIRRRTAHAFKISKIYKPLLFMDLLDERTLVAVERPLDDIIAQLPPPIKKKKFGT 631 - 686 //
