| Tbio | T-complex protein 1 subunit epsilon |
Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin.
The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]
The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Adenocarcinoma of lung | 142 | 0.0 | 0.0 |
| Breast Neoplasms | 445 | 0.0 | 0.0 |
| Disease Models, Animal | 155 | 0.0 | 0.0 |
| HIV Infections | 102 | 0.0 | 0.0 |
| Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| non-small cell lung cancer | 2890 | 6.0e-21 |
| psoriasis | 6694 | 2.4e-04 |
| medulloblastoma, large-cell | 6241 | 4.3e-04 |
| group 3 medulloblastoma | 4104 | 4.6e-04 |
| invasive ductal carcinoma | 2951 | 1.6e-03 |
| lung cancer | 4740 | 1.4e-02 |
| ovarian cancer | 8520 | 1.5e-02 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 1.5e-02 |
| Breast cancer | 3578 | 3.2e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neuropathy | 261 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Sensory peripheral neuropathy | 10 | 3.885 | 1.9 |
| Hereditary sensory neuropathy | 11 | 3.779 | 1.9 |
| epididymo-orchitis | 8 | 3.492 | 1.7 |
| Benign epilepsy with centrotemporal spikes | 13 | 3.302 | 1.7 |
| Charcot-Marie-Tooth disease type 2B | 6 | 3.233 | 1.6 |
| Disease | Target Count |
|---|---|
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 |
| Disease | log2 FC | p |
|---|---|---|
| Breast cancer | 3.200 | 3.2e-02 |
| group 3 medulloblastoma | 1.100 | 4.6e-04 |
| intraductal papillary-mucinous neoplasm ... | 1.300 | 1.5e-02 |
| invasive ductal carcinoma | 1.100 | 1.6e-03 |
| lung cancer | 1.300 | 1.4e-02 |
| medulloblastoma, large-cell | 1.100 | 4.3e-04 |
| non-small cell lung cancer | 1.352 | 6.0e-21 |
| ovarian cancer | 1.100 | 1.5e-02 |
| psoriasis | -1.400 | 2.4e-04 |
| Accession | P48643 A8JZY8 A8K2X8 B4DYD8 TCP-1-epsilon |
| Symbols |
CCTE HEL-S-69 PNAS-102 CCT-epsilon TCP-1-epsilon |
MASMGTLAFDEYGRPFLIIKDQDRKSRLMGLEALKSHIMAAKAVANTMRTSLGPNGLDKMMVDKDGDVTV 1 - 70 TNDGATILSMMDVDHQIAKLMVELSKSQDDEIGDGTTGVVVLAGALLEEAEQLLDRGIHPIRIADGYEQA 71 - 140 ARVAIEHLDKISDSVLVDIKDTEPLIQTAKTTLGSKVVNSCHRQMAEIAVNAVLTVADMERRDVDFELIK 141 - 210 VEGKVGGRLEDTKLIKGVIVDKDFSHPQMPKKVEDAKIAILTCPFEPPKPKTKHKLDVTSVEDYKALQKY 211 - 280 EKEKFEEMIQQIKETGANLAICQWGFDDEANHLLLQNNLPAVRWVGGPEIELIAIATGGRIVPRFSELTA 281 - 350 EKLGFAGLVQEISFGTTKDKMLVIEQCKNSRAVTIFIRGGNKMIIEEAKRSLHDALCVIRNLIRDNRVVY 351 - 420 GGGAAEISCALAVSQEADKCPTLEQYAMRAFADALEVIPMALSENSGMNPIQTMTEVRARQVKEMNPALG 421 - 490 IDCLHKGTNDMKQQHVIETLIGKKQQISLATQMVRMILKIDDIRKPGESEE 491 - 541 //
