| Tbio | Meckel syndrome type 1 protein |
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Bardet-Biedl syndrome | 51 | 4.604 | 2.3 |
| BARDET-BIEDL SYNDROME 13 | 1 | 0.0 | 0.0 |
| Meckel syndrome type 1 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ependymoma | 4679 | 2.6e-10 |
| glioblastoma | 5792 | 5.5e-10 |
| group 3 medulloblastoma | 4104 | 2.5e-06 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.9e-06 |
| primitive neuroectodermal tumor | 3035 | 8.0e-06 |
| medulloblastoma, large-cell | 6241 | 3.5e-05 |
| lung cancer | 4740 | 1.4e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Senior-Loken syndrome | 22 | 4.467 | 2.2 |
| Nephronophthisis | 80 | 4.444 | 2.2 |
| Hydrolethalus syndrome | 128 | 3.855 | 1.9 |
| Disease | Target Count |
|---|---|
| Meckel syndrome | 46 |
| Joubert syndrome | 66 |
| Bardet-Biedl syndrome 1 | 22 |
| Joubert syndrome with ocular defect | 4 |
| Meckel Syndrome, Type 1 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| atypical teratoid / rhabdoid tumor | 1.200 | 2.9e-06 |
| ependymoma | 1.100 | 2.6e-10 |
| glioblastoma | 1.100 | 5.5e-10 |
| group 3 medulloblastoma | 1.500 | 2.5e-06 |
| lung cancer | 1.200 | 1.4e-03 |
| medulloblastoma, large-cell | 1.600 | 3.5e-05 |
| primitive neuroectodermal tumor | 1.400 | 8.0e-06 |
| Species | Source | Disease |
|---|---|---|
| Inparanoid OMA EggNOG | ||
| OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid EggNOG |
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEE 1 - 70 DEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEH 71 - 140 CQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEEFVRNNHVINTPLQTMHIMADL 141 - 210 GPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERE 211 - 280 RRVFKDLYGRHKEYLSSLVGTDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQ 281 - 350 LSGVTQTCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVL 351 - 420 PATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRTETTGTVTFRL 421 - 490 HCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQEARESLPQDLVSPSGTLVS 491 - 559 //
