TBC1D7

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]

Full Name

TBC1D7 Gene(Protein Coding) TBC1 Domain Family Member 7

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.

Biological Process

Biological Process activation of GTPase activityIMP:UniProtKB1 Publication
Biological Process negative regulation of cilium assemblyIMP:UniProtKB1 Publication
Biological Process negative regulation of TOR signalingIDA:ComplexPortal1 Publication
Biological Process positive regulation of GTPase activityIDA:UniProtKB1 Publication
Biological Process positive regulation of protein ubiquitinationIDA:UniProtKB1 Publication
Biological Process response to growth factorIMP:UniProtKB1 Publication

Cellular Location

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

Involvement in disease

Macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH):
An autosomal recessive disorder characterized by abnormal enlargement of the cerebral hemispheres, intellectual disability, large head, optic atrophy and underdeveloped skeletal musculature. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Additional clinical features include behavioral abnormalities, psychosis, learning difficulties, prognathism, myopia and astigmatism.