Recombinant Human TBC1 domain family member 7 (TBC1D7)

Uniprot Id

Q9P0N9

Target Species

Human

Target Name

TBC1D7

Target Full Name

TBC1 domain family member 7

Target Function

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.

Target Involvement

Macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH)

Target Subcellular Location

Cytoplasmic vesicle. Note=Localizes in the cytoplasmic vesicles of the endomembrane in association with TSC1-TSC2 complex.

Target Tissue Specificity

Highly expressed in heart, and slightly in kidney, liver and placenta.

Target Synonyms

TBC1D7; TBC7; HSPC239; TBC1 domain family member 7; Cell migration-inducing protein 23