| Tbio | Polyglutamine-binding protein 1 |
Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:23512658, PubMed:20410308). May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery (PubMed:10198427). May be involved in ATXN1 mutant-induced cell death (PubMed:12062018). The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018). Involved in the assembly of cytoplasmic stress granule, possibly by participating to the transport of neuronal RNA granules (PubMed:21933836). Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437). Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with MB21D1/cGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437).
This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Microcephaly | 166 | 5.03 | 2.5 |
| Growth Disorders | 35 | 0.0 | 0.0 |
| Heart Septal Defects, Atrial | 2 | 0.0 | 0.0 |
| Mental Retardation, X-Linked | 23 | 0.0 | 0.0 |
| Renpenning syndrome 1 | 1 | 0.0 | 0.0 |
| Spastic Paraplegia, Hereditary | 5 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 6.8e-08 |
| psoriasis | 6694 | 2.7e-04 |
| Multiple myeloma | 1332 | 2.5e-03 |
| ovarian cancer | 8520 | 5.8e-03 |
| adult high grade glioma | 3801 | 7.8e-03 |
| non primary Sjogren syndrome sicca | 891 | 2.3e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Spastic diplegia | 5 | 4.008 | 2.0 |
| Partington syndrome | 9 | 3.696 | 1.8 |
| Spinocerebellar ataxia type 1 | 16 | 3.304 | 1.7 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -1.300 | 7.8e-03 |
| Multiple myeloma | 1.072 | 2.5e-03 |
| non primary Sjogren syndrome sicca | 1.400 | 2.3e-02 |
| osteosarcoma | -2.397 | 6.8e-08 |
| ovarian cancer | 1.100 | 5.8e-03 |
| psoriasis | -1.500 | 2.7e-04 |
MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADT 1 - 70 DLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDR 71 - 140 DRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYS 141 - 210 DAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD 211 - 265 //
