TBC1D7
Third constitutive subunit of the TSC complex; its loss weakens but does not abolish TSC1-TSC2 function.
The third, easily forgotten subunit of the brake. A third, less essential building block of the TSC brake complex. Losing it weakens the TSC1/TSC2 brake on mTORC1 but doesn't fully knock it out.
Loss produces a mild megalencephaly phenotype far weaker than TSC1/TSC2 loss, so it is a stabiliser rather than a catalytic component.
TL;DR. TBC1D7 appears in 1 curated study in Oliver's mTOR Atlas: 1 at the molecular level (cells, biochemistry, structure). No study in people is recorded for it in the Atlas yet. It has 1 interaction in the curated pathway model.
In the pathway model
| Interaction | Mechanism | Evidence | Studies |
|---|---|---|---|
| TBC1D7 required-for TSC1/TSC2 mechanism: complex-assembly · this link in full · on the map table | TBC1D7 is a smaller, easy-to-miss third piece of the TSC brake; losing it weakens the brake without removing it. TBC1D7 is the third, often-forgotten subunit of the TSC complex; losing it weakens the brake without removing it. TBC1D7 is the third, often-forgotten subunit of the TSC complex; losing it weakens the brake without removing it. Holds under: One study in human cells (DIB2012). A single study; consequences beyond cell-level complex assembly are not tested in whole animals or in people. plausible in people, not shown directly · settled in the literature | M | DIB2012 |
Evidence at a glance
| Evidence | What it means | Studies |
|---|---|---|
| M | Molecular — cells, biochemistry, structure | 1 |
No direct human evidence in the Atlas for this entity yet — everything below rests on animal or molecular work.
Studies
| Year | Evidence | Study |
|---|---|---|
| 2012 | M | TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1 DIB2012 TBC1D7 is the third core subunit of the TSC1-TSC2 complex regulating Rheb/mTORC1. |
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