| Tbio | GTP-binding protein Rhes |
GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination.
This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016]
This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016]
Comments
| Disease | Target Count |
|---|---|
| Schizophrenia | 1136 |
| Disease | Target Count | P-value |
|---|---|---|
| lung carcinoma | 2755 | 2.8e-15 |
| oligodendroglioma | 2768 | 9.7e-13 |
| glioblastoma | 5635 | 2.1e-06 |
| Astrocytoma, Pilocytic | 3006 | 7.2e-04 |
| medulloblastoma, large-cell | 6086 | 7.5e-04 |
| astrocytic glioma | 2530 | 1.2e-03 |
| adult high grade glioma | 3701 | 3.1e-03 |
| ependymoma | 4559 | 3.8e-03 |
| primitive neuroectodermal tumor | 2957 | 1.9e-02 |
| group 3 medulloblastoma | 4002 | 2.8e-02 |
| atypical teratoid/rhabdoid tumor | 349 | 4.1e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Huntington's disease | 75 | 4.288 | 2.1 |
| Retinitis pigmentosa 4 | 38 | 3.896 | 1.9 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -2.000 | 3.1e-03 |
| astrocytic glioma | -1.400 | 1.2e-03 |
| Astrocytoma, Pilocytic | -1.600 | 7.2e-04 |
| atypical teratoid/rhabdoid tumor | -1.200 | 4.1e-02 |
| ependymoma | -1.200 | 3.8e-03 |
| glioblastoma | -1.800 | 2.1e-06 |
| group 3 medulloblastoma | -2.000 | 2.8e-02 |
| lung carcinoma | 1.700 | 2.8e-15 |
| medulloblastoma, large-cell | -2.100 | 7.5e-04 |
| oligodendroglioma | -1.200 | 9.7e-13 |
| primitive neuroectodermal tumor | -1.200 | 1.9e-02 |
MMKTLSSGNCTLSVPAKNSYRMVVLGASRVGKSSIVSRFLNGRFEDQYTPTIEDFHRKVYNIRGDMYQLD 1 - 70 ILDTSGNHPFPAMRRLSILTGDVFILVFSLDNRESFDEVKRLQKQILEVKSCLKNKTKEAAELPMVICGN 71 - 140 KNDHGELCRQVPTTEAELLVSGDENCAYFEVSAKKNTNVDEMFYVLFSMAKLPHEMSPALHRKISVQYGD 141 - 210 AFHPRPFCMRRVKEMDAYGMVSPFARRPSVNSDLKYIKAKVLREGQARERDKCTIQ 211 - 266 //
