| Tbio | U3 small nucleolar RNA-associated protein 4 homolog |
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. Ribosome biogenesis factor involved in small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b.
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 |
|---|---|
| North American Indian childhood cirrhosis | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8492 | 6.5380401904251E-6 |
| invasive ductal carcinoma | 2950 | 0.00437426316505387 |
| pancreatic ductal adenocarcinoma liver metastasis | 1795 | 0.0203120195884921 |
| ependymoma | 2514 | 0.0399629362715892 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Bowen-Conradi syndrome | 16 | 4.308 | 2.2 |
| Liver Cirrhosis | 101 | 3.63 | 1.8 |
| Cholestasis | 93 | 3.623 | 1.8 |
| Disease | Target Count |
|---|---|
| Hereditary North American Indian childhood cirrhosis | 1 |
| Disease | log2 FC | p |
|---|---|---|
| ependymoma | -1.100 | 0.040 |
| pancreatic ductal adenocarcinoma liver m... | -1.387 | 0.020 |
| invasive ductal carcinoma | -1.009 | 0.004 |
| ovarian cancer | 2.400 | 0.000 |
| PMID | Text |
|---|---|
| 19732766 | Cirhin is a transcriptional regulatory factor of this NF-kappaB sequence and could be a participant in the regulation of other genes with NF-kappaB responsive elements. |
| 16225863 | Cirhin is a nucleolar protein and the R565W mutation, for which all North American Indian childhood cirrhosis patients are homozygous, has no effect on subcellular localization. |
| 12417987 | A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis |
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 //
| PMID | Year | Title |
|---|---|---|
| 24219289 | 2013 | Interaction, mobility, and phosphorylation of human orthologues of WD repeat-containing components of the yeast SSU processome t-UTP sub-complex. |
| 22916032 | 2012 | NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing. |
| 22658674 | 2012 | Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. |
| 20813266 | 2010 | The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics. |
| 20385600 | 2010 | The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. |
| 19732766 | 2009 | Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. |
| 18482256 | 2009 | Protein microarray analysis identifies human cellular prion protein interactors. |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
| 16225863 | 2005 | Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. |
| 15768832 | 2004 | Molecular basis of intrahepatic cholestasis. |
| More... |
