| Tbio | Ankyrin repeat domain-containing protein 27 |
May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (PubMed:23104059). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required for the colocalization of VAMP7 and Rab21, probably on TGN sites (PubMed:19745841). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 (PubMed:24856514). Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).
Comments
| Disease | Target Count | P-value |
|---|---|---|
| acute quadriplegic myopathy | 1158 | 6.6e-06 |
| malignant mesothelioma | 3232 | 2.2e-05 |
| group 4 medulloblastoma | 1855 | 2.3e-05 |
| pediatric high grade glioma | 1064 | 4.1e-05 |
| glioblastoma | 5792 | 5.0e-04 |
| dermatomyositis | 966 | 7.6e-04 |
| ovarian cancer | 8520 | 9.4e-04 |
| Waldenstrons macroglobulinemia | 765 | 1.3e-02 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 1.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Mental Depression | 333 | 0.0 | 1.9 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hermansky-Pudlak syndrome | 42 | 4.231 | 2.1 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.044 | 6.6e-06 |
| dermatomyositis | 1.500 | 7.6e-04 |
| glioblastoma | -1.100 | 5.0e-04 |
| group 4 medulloblastoma | -1.400 | 2.3e-05 |
| malignant mesothelioma | 1.200 | 2.2e-05 |
| ovarian cancer | 1.700 | 9.4e-04 |
| pancreatic ductal adenocarcinoma liver m... | 1.067 | 1.6e-02 |
| pediatric high grade glioma | -1.100 | 4.1e-05 |
| Waldenstrons macroglobulinemia | 1.067 | 1.3e-02 |
MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGIVLVPCKGSLSSSIQSTCQFESYILIPVEEHFQTLNG 1 - 70 KDVFIQGNRIKLGAGFACLLSVPILFEETFYNEKEESFSILCIAHPLEKRESSEEPLAPSDPFSLKTIED 71 - 140 VREFLGRHSERFDRNIASFHRTFRECERKSLRHHIDSANALYTKCLQQLLRDSHLKMLAKQEAQMNLMKQ 141 - 210 AVEIYVHHEIYNLIFKYVGTMEASEDAAFNKITRSLQDLQQKDIGVKPEFSFNIPRAKRELAQLNKCTSP 211 - 280 QQKLVCLRKVVQLITQSPSQRVNLETMCADDLLSVLLYLLVKTEIPNWMANLSYIKNFRFSSLAKDELGY 281 - 350 CLTSFEAAIEYIRQGSLSAKPPESEGFGDRLFLKQRMSLLSQMTSSPTDCLFKHIASGNQKEVERLLSQE 351 - 420 DHDKDTVQKMCHPLCFCDDCEKLVSGRLNDPSVVTPFSRDDRGHTPLHVAAVCGQASLIDLLVSKGAMVN 421 - 490 ATDYHGATPLHLACQKGYQSVTLLLLHYKASAEVQDNNGNTPLHLACTYGHEDCVKALVYYDVESCRLDI 491 - 560 GNEKGDTPLHIAARWGYQGVIETLLQNGASTEIQNRLKETPLKCALNSKILSVMEAYHLSFERRQKSSEA 561 - 630 PVQSPQRSVDSISQESSTSSFSSMSASSRQEETKKDYREVEKLLRAVADGDLEMVRYLLEWTEEDLEDAE 631 - 700 DTVSAADPEFCHPLCQCPKCAPAQKRLAKVPASGLGVNVTSQDGSSPLHVAALHGRADLIPLLLKHGANA 701 - 770 GARNADQAVPLHLACQQGHFQVVKCLLDSNAKPNKKDLSGNTPLIYACSGGHHELVALLLQHGASINASN 771 - 840 NKGNTALHEAVIEKHVFVVELLLLHGASVQVLNKRQRTAVDCAEQNSKIMELLQVVPSCVASLDDVAETD 841 - 910 RKEYVTVKIRKKWNSKLYDLPDEPFTRQFYFVHSAGQFKGKTSREIMARDRSVPNLTEGSLHEPGRQSVT 911 - 980 LRQNNLPAQSGSHAAEKGNSDWPERPGLTQTGPGHRRMLRRHTVEDAVVSQGPEAAGPLSTPQEVSASRS 981 - 1050 //
