| Tbio | WD repeat-containing protein 41 |
Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27103069, PubMed:27617292).
Comments
| Disease | Target Count | P-value |
|---|---|---|
| adrenocortical carcinoma | 1428 | 6.7e-06 |
| ovarian cancer | 8520 | 1.1e-05 |
| Pick disease | 1894 | 1.5e-04 |
| osteosarcoma | 7950 | 2.2e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Disease of mental health | 36 | 0.0 | 2.4 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Frontotemporal dementia | 51 | 4.035 | 2.0 |
| Amyotrophic lateral sclerosis | 451 | 3.639 | 1.8 |
| Smith-Magenis syndrome | 29 | 3.567 | 1.8 |
| Disease | log2 FC | p |
|---|---|---|
| adrenocortical carcinoma | 1.238 | 6.7e-06 |
| osteosarcoma | -1.272 | 2.2e-02 |
| ovarian cancer | -1.400 | 1.1e-05 |
| Pick disease | -1.100 | 1.5e-04 |
MLRWLIGGGREPQGLAEKSPLQTIGEEQTQNPYTELLVLKAHHDIVRFLVQLDDYRFASAGDDGIVVVWN 1 - 70 AQTGEKLLELNGHTQKITAIITFPSLESCEEKNQLILTASADRTVIVWDGDTTRQVQRISCFQSTVKCLT 71 - 140 VLQRLDVWLSGGNDLCVWNRKLDLLCKTSHLSDTGISALVEIPKNCVVAAVGKELIIFRLVAPTEGSLEW 141 - 210 DILEVKRLLDHQDNILSLINVNDLSFVTGSHVGELIIWDALDWTMQAYERNFWDPSPQLDTQQEIKLCQK 211 - 280 SNDISIHHFTCDEENVFAAVGRGLYVYSLQMKRVIACQKTAHDSNVLHVARLPNRQLISCSEDGSVRIWE 281 - 350 LREKQQLAAEPVPTGFFNMWGFGRVSKQASQPVKKQQENATSCSLELIGDLIGHSSSVEMFLYFEDHGLV 351 - 420 TCSADHLIILWKNGERESGLRSLRLFQKLEENGDLYLAV 421 - 459 //
