| Tbio | TBC1 domain family member 7 |
Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.
This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| non-small cell lung cancer | 2890 | 3.7e-14 |
| tuberculosis | 2010 | 3.0e-06 |
| ovarian cancer | 8520 | 1.2e-03 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 1.5e-03 |
| invasive ductal carcinoma | 2951 | 3.7e-03 |
| primary pancreatic ductal adenocarcinoma | 1109 | 8.0e-03 |
| acute myeloid leukemia | 783 | 3.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cardiovascular system disease | 246 | 0.0 | 0.9 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hantavirus pulmonary syndrome | 6 | 3.47 | 1.7 |
| Intellectual disability | 1016 | 3.131 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| acute myeloid leukemia | -1.100 | 3.4e-02 |
| intraductal papillary-mucinous carcinoma... | 1.500 | 1.5e-03 |
| invasive ductal carcinoma | 1.200 | 3.7e-03 |
| non-small cell lung cancer | 1.213 | 3.7e-14 |
| ovarian cancer | 1.100 | 1.2e-03 |
| primary pancreatic ductal adenocarcinoma | 1.020 | 8.0e-03 |
| tuberculosis | -1.100 | 3.0e-06 |
MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPH 1 - 70 HESHAKVMMYRKEQYLDVLHALKVVRFVSDATPQAEVYLRMYQLESGKLPRSPSFPLEPDDEVFLAIAKA 71 - 140 MEEMVEDSVDCYWITRRFVNQLNTKYRDSLPQLPKAFEQYLNLEDGRLLTHLRMCSAAPKLPYDLWFKRC 141 - 210 FAGCLPESSLQRVWDKVVSGSCKILVFVAVEILLTFKIKVMALNSAEKITKFLENIPQDSSDAIVSKAID 211 - 280 LWHKHCGTPVHSS 281 - 293 //
